P37231

PR
Gene name
PPARG (NR1C3)
Protein name
Peroxisome proliferator-activated receptor gamma
Names
PPAR-gamma, Nuclear receptor subfamily 1 group C member 3
Species
Homo sapiens (Human)
KEGG Pathway
hsa:5468
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

78-151 (Predicted disordered autoinhibitory region) PR

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

294 structures for P37231

Entry ID Method Resolution Chain Position Source
1FM6 X-ray 210 A D/X 234-505 PDB
1FM9 X-ray 210 A D 234-505 PDB
1I7I X-ray 235 A A/B 225-505 PDB
1K74 X-ray 230 A D 234-505 PDB
1KNU X-ray 250 A A/B 232-505 PDB
1NYX X-ray 265 A A/B 230-505 PDB
1PRG X-ray 220 A A/B 235-504 PDB
1RDT X-ray 240 A D 235-505 PDB
1WM0 X-ray 290 A X 232-505 PDB
1ZEO X-ray 250 A A/B 231-505 PDB
1ZGY X-ray 180 A A 234-505 PDB
2ATH X-ray 228 A A/B 235-505 PDB
2F4B X-ray 207 A A/B 235-505 PDB
2FVJ X-ray 199 A A 235-505 PDB
2G0G X-ray 254 A A/B 235-505 PDB
2G0H X-ray 230 A A/B 235-505 PDB
2GTK X-ray 210 A A 235-505 PDB
2HFP X-ray 200 A A 234-505 PDB
2HWQ X-ray 197 A A/B 235-505 PDB
2HWR X-ray 234 A A/B 235-505 PDB
2I4J X-ray 210 A A/B 223-504 PDB
2I4P X-ray 210 A A/B 223-504 PDB
2I4Z X-ray 225 A A/B 223-504 PDB
2OM9 X-ray 280 A A/B/C/D 232-505 PDB
2P4Y X-ray 225 A A/B 231-505 PDB
2POB X-ray 230 A A/B 234-505 PDB
2PRG X-ray 230 A A/B 235-505 PDB
2Q59 X-ray 220 A A/B 233-505 PDB
2Q5P X-ray 230 A A/B 233-505 PDB
2Q5S X-ray 205 A A/B 233-505 PDB
2Q61 X-ray 220 A A/B 233-505 PDB
2Q6R X-ray 241 A A/B 233-505 PDB
2Q6S X-ray 240 A A/B 233-505 PDB
2Q8S X-ray 230 A A/B 235-505 PDB
2QMV NMR - A 235-504 PDB
2VSR X-ray 205 A A/B 232-505 PDB
2VST X-ray 235 A A/B 232-505 PDB
2VV0 X-ray 255 A A/B 232-505 PDB
2VV1 X-ray 220 A A/B 232-505 PDB
2VV2 X-ray 275 A A/B 232-505 PDB
2VV3 X-ray 285 A A/B 232-505 PDB
2VV4 X-ray 235 A A/B 232-505 PDB
2XKW X-ray 202 A A/B 232-505 PDB
2YFE X-ray 200 A A/B 223-505 PDB
2ZK0 X-ray 236 A A/B 223-504 PDB
2ZK1 X-ray 261 A A/B 223-504 PDB
2ZK2 X-ray 226 A A/B 223-504 PDB
2ZK3 X-ray 258 A A/B 223-504 PDB
2ZK4 X-ray 257 A A/B 223-504 PDB
2ZK5 X-ray 245 A A/B 223-504 PDB
2ZK6 X-ray 241 A A/B 223-504 PDB
2ZNO X-ray 240 A A/B 223-504 PDB
2ZVT X-ray 190 A A/B 223-504 PDB
3ADS X-ray 225 A A/B 223-505 PDB
3ADT X-ray 270 A A/B 223-505 PDB
3ADU X-ray 277 A A/B 223-505 PDB
3ADV X-ray 227 A A/B 223-505 PDB
3ADW X-ray 207 A A/B 223-505 PDB
3ADX X-ray 195 A A/B 223-505 PDB
3AN3 X-ray 230 A A/B 223-504 PDB
3AN4 X-ray 230 A A/B 223-504 PDB
3B0Q X-ray 210 A A/B 231-504 PDB
3B0R X-ray 215 A A/B 231-504 PDB
3B1M X-ray 160 A A 234-505 PDB
3B3K X-ray 260 A A/B 223-504 PDB
3BC5 X-ray 227 A A 231-505 PDB
3CDP X-ray 280 A A/B 223-504 PDB
3CDS X-ray 265 A A/B 223-504 PDB
3CS8 X-ray 230 A A 234-504 PDB
3CWD X-ray 240 A A/B 236-505 PDB
3D6D X-ray 240 A A/B 223-504 PDB
3DZU X-ray 320 A D 102-505 PDB
3DZY X-ray 310 A D 102-505 PDB
3E00 X-ray 310 A D 102-505 PDB
3ET0 X-ray 240 A A/B 235-505 PDB
3ET3 X-ray 195 A A 235-505 PDB
3FEJ X-ray 201 A A 235-505 PDB
3FUR X-ray 230 A A 234-505 PDB
3G9E X-ray 230 A A 235-505 PDB
3GBK X-ray 230 A A/B 235-505 PDB
3H0A X-ray 210 A D 234-505 PDB
3HO0 X-ray 260 A A/B 223-504 PDB
3HOD X-ray 210 A A/B 223-504 PDB
3IA6 X-ray 231 A A/B 235-505 PDB
3K8S X-ray 255 A A/B 234-505 PDB
3KMG X-ray 210 A A/D 234-505 PDB
3LMP X-ray 190 A A 234-505 PDB
3NOA X-ray 198 A A/B 235-505 PDB
3OSI X-ray 270 A A/B 224-504 PDB
3OSW X-ray 255 A A/B 224-504 PDB
3PBA X-ray 230 A A/B 224-505 PDB
3PO9 X-ray 235 A A/B 224-505 PDB
3PRG X-ray 290 A A 232-505 PDB
3QT0 X-ray 250 A A 235-505 PDB
3R5N X-ray 200 A A 232-505 PDB
3R8A X-ray 241 A A/B 235-505 PDB
3R8I X-ray 230 A A/B 223-505 PDB
3S9S X-ray 255 A A 234-505 PDB
3SZ1 X-ray 230 A A/B 232-505 PDB
3T03 X-ray 210 A A/B 234-505 PDB
3TY0 X-ray 200 A A/B 231-505 PDB
3U9Q X-ray 152 A A 236-504 PDB
3V9T X-ray 165 A A 234-505 PDB
3V9V X-ray 160 A A 234-505 PDB
3V9Y X-ray 210 A A 234-505 PDB
3VJH X-ray 222 A A/B 223-504 PDB
3VJI X-ray 261 A A/B 223-504 PDB
3VN2 X-ray 218 A A 225-505 PDB
3VSO X-ray 200 A A/B 223-504 PDB
3VSP X-ray 240 A A/B 223-504 PDB
3WJ4 X-ray 195 A A/B 235-505 PDB
3WJ5 X-ray 189 A A/B 235-505 PDB
3WMH X-ray 210 A A/B 223-504 PDB
3X1H X-ray 230 A A/B 232-505 PDB
3X1I X-ray 240 A A/B 232-505 PDB
4A4V X-ray 200 A A/B 223-505 PDB
4A4W X-ray 200 A A/B 223-505 PDB
4CI5 X-ray 177 A A/B 234-505 PDB
4E4K X-ray 250 A A/B 223-505 PDB
4E4Q X-ray 250 A A/B 223-505 PDB
4EM9 X-ray 210 A A/B 235-505 PDB
4EMA X-ray 254 A A/B 235-505 PDB
4F9M X-ray 190 A A 234-505 PDB
4FGY X-ray 284 A A 235-504 PDB
4HEE X-ray 250 A X 235-505 PDB
4JAZ X-ray 285 A A/B 223-505 PDB
4JL4 X-ray 250 A A/B 223-505 PDB
4L96 X-ray 238 A A 235-505 PDB
4L98 X-ray 228 A A/B 235-505 PDB
4O8F X-ray 260 A A/B 223-505 PDB
4OJ4 X-ray 230 A A 232-505 PDB
4PRG X-ray 290 A A/B/C/D 235-504 PDB
4PVU X-ray 260 A A/B 223-505 PDB
4PWL X-ray 260 A A/B 223-505 PDB
4R06 X-ray 222 A A/B 233-505 PDB
4R2U X-ray 230 A A/D 231-505 PDB
4R6S X-ray 230 A A/B 231-505 PDB
4XLD X-ray 245 A A 231-505 PDB
4XTA X-ray 250 A A/B 232-505 PDB
4XUH X-ray 222 A A/B 232-505 PDB
4XUM X-ray 240 A A/B 232-505 PDB
4Y29 X-ray 198 A A 236-504 PDB
4YT1 X-ray 220 A A/B 223-504 PDB
5AZV X-ray 270 A A/B 232-505 PDB
5DSH X-ray 295 A A 223-505 PDB
5DV3 X-ray 275 A A 223-505 PDB
5DV6 X-ray 280 A A 223-505 PDB
5DV8 X-ray 275 A A 223-505 PDB
5DVC X-ray 230 A A 223-505 PDB
5DWL X-ray 220 A A 223-505 PDB
5F9B X-ray 225 A A/B 223-505 PDB
5GTN X-ray 185 A A 223-505 PDB
5GTO X-ray 210 A A 223-505 PDB
5GTP X-ray 235 A A 223-505 PDB
5HZC X-ray 200 A A/B 223-505 PDB
5JI0 X-ray 198 A D 234-505 PDB
5LSG X-ray 200 A A/B 223-505 PDB
5TTO X-ray 225 A A/B 233-505 PDB
5TWO X-ray 193 A A 234-505 PDB
5U5L X-ray 255 A A/B 233-505 PDB
5UGM X-ray 210 A A/B 235-505 PDB
5WQX X-ray 229 A A/B 232-505 PDB
5WR0 X-ray 285 A A/B 232-505 PDB
5WR1 X-ray 234 A A/B 232-505 PDB
5Y2O X-ray 180 A A/B 235-505 PDB
5Y2T X-ray 170 A A/B 235-505 PDB
5YCN X-ray 215 A A 223-505 PDB
5YCP X-ray 200 A A 223-505 PDB
5Z5S X-ray 180 A A 234-505 PDB
5Z6S X-ray 180 A A 234-505 PDB
6AD9 X-ray 220 A A 223-505 PDB
6AN1 X-ray 269 A A/B 224-505 PDB
6AUG X-ray 273 A A/B 231-505 PDB
6AVI X-ray 229 A A/B 231-505 PDB
6C1I X-ray 226 A A/B 231-504 PDB
6C5Q X-ray 240 A A 235-505 PDB
6C5T X-ray 275 A A 235-505 PDB
6D3E X-ray 240 A A/B 235-504 PDB
6D8X X-ray 190 A A 231-505 PDB
6D94 X-ray 190 A A 231-505 PDB
6DBH X-ray 260 A A/B 231-505 PDB
6DCU X-ray 295 A A/B 231-505 PDB
6DGL X-ray 195 A A/B 231-505 PDB
6DGO X-ray 310 A A/B 231-505 PDB
6DGP X-ray 310 A A/B 231-505 PDB
6DGQ X-ray 245 A A/B 231-505 PDB
6DGR X-ray 215 A A/B 231-505 PDB
6DH9 X-ray 270 A A/B 235-505 PDB
6DHA X-ray 188 A A/B 235-505 PDB
6E5A X-ray 240 A A/B 233-505 PDB
6ENQ X-ray 220 A A/B 224-505 PDB
6F2L X-ray 210 A A/B 223-505 PDB
6FZF X-ray 195 A A/B 231-505 PDB
6FZG X-ray 210 A A 231-505 PDB
6FZJ X-ray 201 A A/B 231-505 PDB
6FZP X-ray 230 A A 231-505 PDB
6FZY X-ray 310 A A/B 231-505 PDB
6ICJ X-ray 248 A A 234-505 PDB
6IJR X-ray 285 A A/C 223-505 PDB
6IJS X-ray 215 A A 232-505 PDB
6ILQ X-ray 241 A A 234-505 PDB
6IZM X-ray 180 A A 234-505 PDB
6IZN X-ray 175 A A 234-505 PDB
6JEY X-ray 220 A A/B 232-505 PDB
6JF0 X-ray 340 A A/B 232-505 PDB
6JQ7 X-ray 255 A A 223-505 PDB
6K0T X-ray 184 A A/C 223-505 PDB
6KTM X-ray 270 A A 223-505 PDB
6KTN X-ray 275 A A 223-505 PDB
6L89 X-ray 210 A A/B 223-505 PDB
6L8B X-ray 210 A A/B 223-505 PDB
6MCZ X-ray 210 A A/B 231-505 PDB
6MD0 X-ray 195 A A/B 231-505 PDB
6MD1 X-ray 220 A A/B 231-505 PDB
6MD2 X-ray 220 A A/B 231-505 PDB
6MD4 X-ray 224 A A/B 231-505 PDB
6MS7 X-ray 143 A A 234-505 PDB
6O67 X-ray 252 A A/B 231-505 PDB
6O68 X-ray 278 A A/B 231-505 PDB
6ONI X-ray 180 A B 231-505 PDB
6ONJ X-ray 230 A A 231-505 PDB
6PDZ X-ray 210 A A/B 231-505 PDB
6QJ5 X-ray 200 A A/B 223-505 PDB
6T1S X-ray 165 A A 231-505 PDB
6T1V X-ray 221 A A 231-505 PDB
6T6B X-ray 280 A A 231-505 PDB
6T9C X-ray 195 A A/B 223-505 PDB
6TDC X-ray 233 A A 235-505 PDB
6TSG X-ray 298 A A 231-505 PDB
6VZL X-ray 207 A A/B 231-505 PDB
6VZM X-ray 240 A A/B 231-505 PDB
6VZN X-ray 230 A A/B 231-505 PDB
6VZO X-ray 227 A A/B 231-505 PDB
6Y3U X-ray 262 A A 231-505 PDB
6ZLY X-ray 179 A A/B 223-505 PDB
7A7H X-ray 240 A A 231-505 PDB
7AHJ X-ray 210 A A/B 232-505 PDB
7AWC X-ray 174 A A 231-505 PDB
7AWD X-ray 193 A A 231-505 PDB
7CXE X-ray 250 A A/B 223-505 PDB
7CXF X-ray 235 A A 223-505 PDB
7CXG X-ray 188 A A/B 223-505 PDB
7CXH X-ray 230 A A 223-505 PDB
7CXI X-ray 230 A A 223-505 PDB
7CXJ X-ray 265 A A 223-505 PDB
7CXK X-ray 220 A A 223-505 PDB
7CXL X-ray 270 A A 223-505 PDB
7E0A X-ray 177 A A 230-505 PDB
7E2O X-ray 320 A A/B 232-505 PDB
7EFQ X-ray 230 A A/B 232-505 PDB
7JQG X-ray 215 A A/B 231-505 PDB
7LOT X-ray 229 A A/B 232-505 PDB
7P4E X-ray 240 A A 231-505 PDB
7QB1 X-ray 220 A AAA/BBB 223-505 PDB
7RLE X-ray 250 A A/C 231-505 PDB
7SQA X-ray 250 A A/B 231-505 PDB
7SQB X-ray 260 A A 231-505 PDB
7WGO X-ray 236 A A 231-505 PDB
7WGP X-ray 253 A A 231-505 PDB
7WGQ X-ray 243 A A 231-505 PDB
7WOX X-ray 320 A A/B 232-505 PDB
8ADF X-ray 213 A A/B 223-504 PDB
8AQM X-ray 230 A A/B 231-505 PDB
8AQN X-ray 190 A A/B 231-505 PDB
8ATY X-ray 190 A A 231-505 PDB
8ATZ X-ray 195 A A 231-505 PDB
8B8W X-ray 186 A A/B 231-505 PDB
8B8X X-ray 178 A A/B 231-505 PDB
8B8Y X-ray 200 A A/B 231-505 PDB
8B8Z X-ray 222 A A/B 231-505 PDB
8B90 X-ray 210 A A/B 231-505 PDB
8B91 X-ray 223 A A/B 231-505 PDB
8B92 X-ray 166 A A/B 231-505 PDB
8B93 X-ray 221 A A/B 231-505 PDB
8B94 X-ray 155 A A/B 231-505 PDB
8B95 X-ray 172 A A/B 231-505 PDB
8BF1 X-ray 136 A A 234-505 PDB
8BF2 X-ray 218 A A/B 234-505 PDB
8BFF X-ray 260 A A/B/C 234-505 PDB
8C0C X-ray 220 A A/B 223-504 PDB
8CPH X-ray 240 A A/B 231-505 PDB
8CPI X-ray 210 A A 231-505 PDB
8CPJ X-ray 240 A A 231-505 PDB
8DK4 X-ray 260 A A 234-505 PDB
8DKN X-ray 195 A A 234-505 PDB
8DKV X-ray 159 A A 234-505 PDB
8DSY X-ray 295 A A/B 234-505 PDB
8DSZ X-ray 250 A A/B 234-505 PDB
8HHP X-ray 245 A A 232-505 PDB
8HHQ X-ray 240 A A/B 232-505 PDB
8HUM X-ray 229 A A 231-505 PDB
8HUP X-ray 236 A A 231-505 PDB
8WFE X-ray 220 A A/B 234-505 PDB
AF-P37231-F1 Predicted AlphaFoldDB

337 variants for P37231

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV000118044
rs1801282
VAR_010723
RCV000300998
RCV000336176
RCV000406618
RCV001516919
CA154763
 12 P>A Obesity PPARG-related familial partial lipodystrophy Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension significant independent determinant of CIMT; may protect from early atherosclerosis in subject at risk for diabetes; associated with BMI [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000008605
RCV000008604
CA119314
RCV000008606
VAR_016116
RCV000008607
rs1805192
 40 P>A Diabetes mellitus, noninsulin-dependent, modifier of Body mass index, modifier of Intimal medial thickness of internal carotid artery, modifier of Obesity, modifier of [ClinVar] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
rs2049559215
RCV001195982
 47 S>missing Obesity [ClinVar] Yes ClinVar
dbSNP
CA2258089
rs762280243
RCV001150848
RCV001147496
RCV001147497
 49 D>A Obesity PPARG-related familial partial lipodystrophy Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
RCV001150849
RCV001150850
rs777334819
COSM1484530
RCV001150851
RCV000501246
CA2258106
 79 E>K Obesity Variant assessed as Somatic; 0.0 impact. PPARG-related familial partial lipodystrophy Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension breast [ClinVar, NCI-TCGA, Cosmic] Yes ClinGen
cosmic curated
ClinVar
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
RCV002512915
rs1800571
VAR_010724
RCV000008603
CA119312
 113 P>Q Morbid obesity obesity [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
TOPMed
dbSNP
gnomAD
RCV000500158
CA351618202
rs1553643326
 157 E>G PPARG-related familial partial lipodystrophy [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA351618328
RCV001146702
rs1211829538
RCV001759905
RCV001146703
RCV001147602
 174 D>G Obesity PPARG-related familial partial lipodystrophy Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
RCV000008608
rs587776687
 186 S>missing Carcinoma of colon [ClinVar] Yes ClinVar
dbSNP
rs121909245
CA119330
RCV000008620
 190 C>S PPARG-related familial partial lipodystrophy [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs148195788
RCV000499572
CA70181654
 194 R>Q PPARG-related familial partial lipodystrophy [ClinVar] Yes ClinGen
ClinVar
ESP
dbSNP
rs1553647989
CA351618609
RCV000500715
 212 R>Q PPARG-related familial partial lipodystrophy [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001262840
rs2050647141
 235 E>missing PPARG-related familial partial lipodystrophy [ClinVar] Yes ClinVar
dbSNP
rs2050647473
RCV001253351
 235 E>missing PPARG-related familial partial lipodystrophy [ClinVar] Yes ClinVar
dbSNP
RCV001253577
rs150296212
 240 R>P PPARG-related familial partial lipodystrophy [ClinVar] Yes ClinVar
dbSNP
RCV002559420
RCV001819854
rs150296212
RCV001148105
RCV001148104
RCV001148106
CA2258233
 240 R>Q Obesity PPARG-related familial partial lipodystrophy Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA351619329
RCV001174450
COSM1037601
rs1176746892
 308 R>C Variant assessed as Somatic; 0.0 impact. Monogenic diabetes endometrium central_nervous_system [NCI-TCGA, ClinVar, Cosmic] Yes ClinGen
cosmic curated
ClinVar
NCI-TCGA
dbSNP
gnomAD
RCV001266805
rs2051075084
 310 F>S Inborn genetic diseases [ClinVar] Yes ClinVar
dbSNP
rs121909242
RCV000008609
VAR_010725
CA250555
 314 Q>P Carcinoma of colon colon cancer; sporadic; somatic mutation; loss of ligand-binding [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
rs28936407
VAR_010726
CA250559
RCV000008611
 316 R>H Carcinoma of colon colon cancer; sporadic; somatic mutation; partial loss of ligand-binding [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
TOPMed
dbSNP
gnomAD
CA119321
VAR_010727
rs72551362
RCV000008613
 318 V>M PPARG-related familial partial lipodystrophy diabetes [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
ExAC
dbSNP
gnomAD
rs1378972597
CA351619437
RCV000503151
 324 I>T PPARG-related familial partial lipodystrophy [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
RCV001174451
CA2258299
RCV000503975
RCV000918792
rs139894525
 335 V>L Monogenic diabetes [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1553650477
RCV000499764
 338 D>missing PPARG-related familial partial lipodystrophy [ClinVar] Yes ClinVar
dbSNP
RCV000008610
CA250557
rs121909243
 347 K>* Carcinoma of colon [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
VAR_022700
rs72551363
CA119326
RCV000008618
 388 F>L PPARG-related familial partial lipodystrophy FPLD3 [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV000364024
RCV000301823
CA10614676
RCV000265474
rs886057902
 402 F>L Obesity PPARG-related familial partial lipodystrophy Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA119328
rs72551364
VAR_022701
 425 R>C FPLD3 [UniProt] Yes ClinGen
UniProt
Ensembl
dbSNP
RCV000501839
rs1553653993
CA351467669
 451 L>P PPARG-related familial partial lipodystrophy [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000503538
rs770557781
 454 P>missing PPARG-related familial partial lipodystrophy [ClinVar] Yes ClinVar
dbSNP
RCV000664084
rs756523051
CA2258359
 462 K>R Monogenic diabetes [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
VAR_010728
RCV000382908
CA119319
rs121909244
RCV000008612
RCV001851743
RCV001248978
RCV000288354
 495 P>L Obesity PPARG-related familial partial lipodystrophy Lipodystrophy Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension diabetes [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
dbSNP
gnomAD
CA70177281
rs928058229
 5 L>V No ClinGen
Ensembl
rs1447983492
CA351617021
 7 D>G No ClinGen
TOPMed
gnomAD
rs768377660
CA2258022
 8 S>T No ClinGen
ExAC
gnomAD
CA351617039
rs1487931740
 10 I>T No ClinGen
TOPMed
gnomAD
rs776891749
CA2258023
 10 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA351617043
rs765473307
 11 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA2258025
rs765473307
 11 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs763032994
CA2258026
 14 S>G No ClinGen
ExAC
gnomAD
CA70177282
rs1055170892
 14 S>N No ClinGen
Ensembl
rs943725719
CA70177283
 15 D>N No ClinGen
TOPMed
gnomAD
rs560683642
CA70177284
 16 S>F No ClinGen
gnomAD
TCGA novel 16 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA351617086
rs752068471
 17 F>L No ClinGen
ExAC
gnomAD
TCGA novel 20 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1273690252
CA351617107
 20 T>R No ClinGen
TOPMed
gnomAD
TCGA novel 21 L>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs572991054
CA351617109
 21 L>V No ClinGen
1000Genomes
ExAC
TOPMed
CA351617134
rs1320029787
 25 I>V No ClinGen
gnomAD
rs753139831
CA351617140
 26 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs753139831
CA2258031
 26 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs1575040061
CA351617152
 27 Q>H No ClinGen
Ensembl
rs780983036
CA2258076
 30 T>N No ClinGen
ExAC
gnomAD
CA351617354
rs1335787704
 31 M>I No ClinGen
gnomAD
rs1289387362
CA351617347
 31 M>V No ClinGen
gnomAD
rs1010142067
CA70180279
 32 V>F No ClinGen
TOPMed
CA351617356
rs1010142067
 32 V>I No ClinGen
TOPMed
CA351617360
rs1215582219
 33 D>N No ClinGen
TOPMed
gnomAD
CA351617378
rs1186361559
 35 E>G No ClinGen
TOPMed
CA351617375
rs1246297562
 35 E>Q No ClinGen
gnomAD
rs1464788240
CA351617384
 36 M>L No ClinGen
gnomAD
CA2258077
rs748119466
 36 M>T No ClinGen
ExAC
gnomAD
CA2258079
rs777492588
 39 W>R No ClinGen
ExAC
gnomAD
rs749089217
CA2258080
 41 T>A No ClinGen
ExAC
gnomAD
TCGA novel 41 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA351617418
rs749089217
 41 T>S No ClinGen
ExAC
gnomAD
CA70180280
rs375411329
 42 N>S No ClinGen
Ensembl
rs375308989
CA2258082
 43 F>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2258083
rs143370807
 45 I>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2258084
rs772234905
 47 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs772234905
CA351617460
 47 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs141797536
CA2258086
 48 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs141797536
CA2258087
 48 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs138038967
CA2258090
 49 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2258088
rs777067241
 49 D>N No ClinGen
ExAC
gnomAD
CA351617472
rs1235373823
 50 L>H No ClinGen
gnomAD
rs1235373823
CA351617474
 50 L>R No ClinGen
gnomAD
rs751292113
CA2258091
 50 L>V No ClinGen
ExAC
gnomAD
CA2258092
rs372494308
 51 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs149324518
CA2258094
 52 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA70180282
rs907515750
 53 M>L No ClinGen
Ensembl
CA351617505
rs756002554
 55 D>G No ClinGen
ExAC
gnomAD
CA2258095
rs756002554
 55 D>V No ClinGen
ExAC
gnomAD
rs1441242852
CA351617510
 56 H>D No ClinGen
gnomAD
COSM1495287
CA351617515
rs1187225480
 56 H>Q kidney [Cosmic] No ClinGen
cosmic curated
gnomAD
CA351617513
rs1559515493
 56 H>R No ClinGen
Ensembl
CA70180284
rs868377089
 57 S>F No ClinGen
Ensembl
CA70180283
rs868377089
 57 S>Y No ClinGen
Ensembl
TCGA novel 59 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA70180285
rs369178039
 62 I>N No ClinGen
ESP
CA70180286
rs369178039
 62 I>T No ClinGen
ESP
CA2258096
rs139400454
 62 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757147631
CA2258099
 66 T>A No ClinGen
ExAC
gnomAD
CA2258100
rs778975987
 67 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs1429812309
CA351617588
 68 V>F No ClinGen
TOPMed
rs1413870551
CA351617602
 70 F>V No ClinGen
gnomAD
CA70180287
rs145995117
 71 S>C No ClinGen
ESP
rs1391398513
CA351617614
 72 S>G No ClinGen
TOPMed
CA70180289
rs201978569
 75 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2258103
rs201978569
 75 T>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201978569
CA351617634
 75 T>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA351617648
rs1559515590
 77 H>R No ClinGen
Ensembl
CA351617656
rs1286678629
 78 Y>C No ClinGen
gnomAD
TCGA novel 80 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA351617696
rs375156001
 84 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2258108
rs375156001
 84 T>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1207461391
CA351617701
 85 R>G No ClinGen
TOPMed
rs1196196054
CA351617703
 85 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs773848402
CA2258109
 87 D>G No ClinGen
ExAC
gnomAD
rs759176486
CA2258110
 90 V>G No ClinGen
ExAC
gnomAD
rs140915035
CA2258111
 91 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2258113
rs760238759
 92 D>G No ClinGen
ExAC
gnomAD
CA2258112
rs369959243
 92 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1183297709
CA351617754
 93 Y>F No ClinGen
gnomAD
CA2258114
rs764018224
 94 K>E No ClinGen
ExAC
gnomAD
CA70180290
rs892566497
 94 K>R No ClinGen
Ensembl
rs1477623791
CA351617766
 95 Y>C No ClinGen
TOPMed
gnomAD
rs181976291
CA70180291
 96 D>N No ClinGen
1000Genomes
gnomAD
CA351617779
rs1427549233
 97 L>V No ClinGen
gnomAD
rs756980631
CA2258116
 98 K>T No ClinGen
ExAC
gnomAD
TCGA novel 101 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2258118
rs750218440
 102 Y>C No ClinGen
ExAC
gnomAD
CA351617822
rs1329435104
 103 Q>R No ClinGen
gnomAD
CA2258119
rs758581958
 104 S>R No ClinGen
ExAC
gnomAD
CA351617850
rs1234040540
 105 A>E No ClinGen
TOPMed
CA70180439
rs984243899
 105 A>T No ClinGen
gnomAD
CA351617853
rs1262418036
 106 I>V No ClinGen
gnomAD
rs765091444
CA2258138
 108 V>L No ClinGen
ExAC
gnomAD
rs1165659288
CA351617903
 114 P>S No ClinGen
TOPMed
gnomAD
rs751871408
CA2258142
 116 Y>D No ClinGen
ExAC
gnomAD
CA2258143
rs755081984
 117 S>A No ClinGen
ExAC
gnomAD
rs148037954
CA351617927
 117 S>F No ClinGen
TOPMed
rs148037954
CA70180441
 117 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1363321156
CA351617947
 120 T>I No ClinGen
gnomAD
CA351617951
rs1296488686
 121 Q>E No ClinGen
TOPMed
rs781368576
CA2258144
 121 Q>R No ClinGen
ExAC
gnomAD
rs1436657901
CA351617959
 122 L>F No ClinGen
TOPMed
rs1028136694
CA351617970
 123 Y>* No ClinGen
TOPMed
gnomAD
CA2258145
rs748205580
 124 N>D No ClinGen
ExAC
gnomAD
rs756575717
CA2258146
 124 N>S No ClinGen
ExAC
gnomAD
rs1214500245
CA351618020
 130 P>L No ClinGen
gnomAD
rs1452375580
CA351618015
 130 P>T No ClinGen
TOPMed
rs1237800473
CA351618029
 132 N>D No ClinGen
TOPMed
gnomAD
CA351618031
rs1261231626
 132 N>S No ClinGen
gnomAD
rs1261231626
CA351618030
 132 N>T No ClinGen
gnomAD
CA70180444
rs267599576
 133 S>F No ClinGen
ExAC
rs267599576
CA2258150
 133 S>Y No ClinGen
ExAC
CA351618053
rs1193598966
 135 M>I No ClinGen
TOPMed
rs1474976112
CA351618057
 136 A>E No ClinGen
gnomAD
rs1256582642
CA351618054
 136 A>T No ClinGen
gnomAD
rs549579646
CA2258153
 137 I>V No ClinGen
1000Genomes
ExAC
gnomAD
CA2258155
rs765206131
 140 R>C No ClinGen
ExAC
CA2258156
rs773089349
 140 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA2258157
rs762777341
 141 V>I No ClinGen
ExAC
gnomAD
rs1259224734
CA351618103
 143 G>E No ClinGen
TOPMed
CA351618113
rs1455807261
 144 D>E No ClinGen
gnomAD
rs1346246354
CA351618106
 144 D>N No ClinGen
gnomAD
CA70180445
rs796683680
 151 Y>* No ClinGen
Ensembl
CA351618160
rs1354592503
 151 Y>C No ClinGen
gnomAD
rs1575087860
CA351618171
 153 V>F No ClinGen
Ensembl
CA2258161
rs767853271
 158 G>E No ClinGen
ExAC
TOPMed
RCV000503040
rs1553645235
CA351618245
 161 G>V No ClinGen
ClinVar
Ensembl
dbSNP
CA2258191
rs747804355
 162 F>V No ClinGen
ExAC
gnomAD
CA351618262
rs1170672782
 164 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA2258193
rs777103332
 165 R>T No ClinGen
ExAC
gnomAD
TCGA novel 167 I>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2258195
rs149064546
 167 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2258194
rs748808980
 167 I>V No ClinGen
ExAC
gnomAD
CA351618303
rs1214981971
 170 K>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1222604363
CA351618297
 170 K>Q No ClinGen
TOPMed
rs1315048063
CA351618315
 172 I>S No ClinGen
TOPMed
rs771815282
CA2258198
 172 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs775382056
CA2258199
 173 Y>C No ClinGen
ExAC
gnomAD
CA2258200
rs781526093
 175 R>K No ClinGen
ExAC
gnomAD
COSM1037500
rs764381653
CA2258201
 178 L>I Variant assessed as Somatic; 0.0006007 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2258202
rs753857970
 181 R>G No ClinGen
ExAC
gnomAD
rs149802972
CA70181652
 183 H>P No ClinGen
Ensembl
rs1475289630
CA351618388
 183 H>Y No ClinGen
gnomAD
rs1575106051
CA351618394
 184 K>E No ClinGen
Ensembl
CA351618409
COSM1642070
rs1421126930
 186 S>G stomach [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs587776687 186 S>V Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA] No NCI-TCGA
rs971658739
CA70181653
 189 K>N No ClinGen
Ensembl
CA119332
rs121909246
 194 R>W No ClinGen
gnomAD
CA351618517
rs1462603839
 201 V>M No ClinGen
gnomAD
TCGA novel 204 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1325850074
CA351618548
 205 H>R No ClinGen
gnomAD
CA2258223
rs765346374
 208 I>V No ClinGen
ExAC
gnomAD
rs766913119
CA351618642
 217 E>* No ClinGen
ExAC
gnomAD
rs766913119
CA2258226
 217 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA351618673
rs1346411548
 221 L>V No ClinGen
gnomAD
CA351618683
rs1233945910
 222 L>F No ClinGen
gnomAD
TCGA novel 223 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs573789959
COSM2152381
CA70183036
 223 A>V Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
NCI-TCGA
TOPMed
gnomAD
rs755059777
CA70183037
 227 S>G No ClinGen
Ensembl
CA351618712
rs1193699370
 227 S>N No ClinGen
TOPMed
gnomAD
rs1421791772
CA351618728
 229 I>N No ClinGen
TOPMed
rs763647203
CA2258228
 230 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA351618732
rs763647203
 230 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs763647203
CA2258229
 230 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs756994321
CA2258230
 233 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA351618755
rs756994321
 233 N>T No ClinGen
ExAC
TOPMed
gnomAD
CA2258231
rs778527431
 234 P>S No ClinGen
ExAC
gnomAD
CA351618773
rs1453730891
 236 S>A No ClinGen
gnomAD
CA70183039
rs569100208
 237 A>T No ClinGen
gnomAD
rs1273579652
CA351618792
 239 L>F No ClinGen
TOPMed
CA2258232
rs745376706
 240 R>W No ClinGen
ExAC
gnomAD
TCGA novel 243 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780100410
CA2258234
 246 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA70183040
rs956182399
 247 Y>C No ClinGen
Ensembl
CA2258235
rs746778926
 248 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs768538430
CA2258236
 249 S>* No ClinGen
ExAC
gnomAD
CA351618858
rs1369335310
 250 Y>H No ClinGen
gnomAD
rs1559527858
CA351618868
 251 I>T No ClinGen
Ensembl
rs776809755
CA2258237
 251 I>V No ClinGen
ExAC
gnomAD
rs1010744856
CA70183041
 255 P>L No ClinGen
Ensembl
rs903976924
CA70183042
 259 A>V No ClinGen
TOPMed
CA2258241
rs763106561
 263 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1339677544
CA351618949
 264 I>V No ClinGen
gnomAD
CA70183043
rs76480583
 266 T>K No ClinGen
Ensembl
TCGA novel 267 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 268 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2258243
rs774987355
 268 K>R No ClinGen
ExAC
gnomAD
rs971821381
CA70183044
 270 T>A No ClinGen
Ensembl
CA2258246
rs767945316
 271 D>E No ClinGen
ExAC
gnomAD
rs1194161227
CA351618995
 271 D>G No ClinGen
gnomAD
rs756904247
CA351619002
 272 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs756904247
CA2258247
 272 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA70184211
rs200116144
 274 P>L No ClinGen
1000Genomes
gnomAD
rs4135352
CA351619095
 275 F>L No ClinGen
gnomAD
rs147996578
CA2258279
 276 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 277 I>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA351619111
rs1311453246
 278 Y>C No ClinGen
gnomAD
CA70184213
rs979542536
 278 Y>H No ClinGen
gnomAD
rs935360461
CA70184215
 281 N>S No ClinGen
Ensembl
TCGA novel 284 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745949478
CA2258280
 286 G>R No ClinGen
ExAC
gnomAD
rs1370501806
CA351619210
 291 K>R No ClinGen
TOPMed
gnomAD
rs776209503
CA2258282
 292 F>L No ClinGen
ExAC
gnomAD
CA351619248
rs1355789926
 296 T>N No ClinGen
gnomAD
CA351619244
rs1575141139
 296 T>P No ClinGen
Ensembl
rs1347367417
CA351619260
 298 L>R No ClinGen
gnomAD
CA351619270
rs1324719941
 300 E>Q No ClinGen
TOPMed
CA351619279
rs1239470707
 301 Q>K No ClinGen
gnomAD
rs765948672
CA2258287
 302 S>T No ClinGen
ExAC
gnomAD
CA351619304
rs1575141215
 304 E>G No ClinGen
Ensembl
CA351619316
rs1575141221
 306 A>P No ClinGen
Ensembl
CA2258288
rs751019400
 308 R>H No ClinGen
ExAC
gnomAD
CA70184217
rs751019400
 308 R>L No ClinGen
ExAC
gnomAD
CA70184218
rs111400984
 309 I>T No ClinGen
Ensembl
rs767437202
CA2258290
 312 G>S No ClinGen
ExAC
gnomAD
rs1364613522
CA351619383
 316 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA351619421
rs1440763451
 322 Q>R No ClinGen
gnomAD
rs1438652871
CA351619439
 324 I>M No ClinGen
gnomAD
rs757444052
CA2258294
 326 E>K No ClinGen
ExAC
gnomAD
rs758594107
CA351619483
 331 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs758594107
CA2258297
 331 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs747713716
CA2258298
 335 V>Y No ClinGen
ExAC
rs938504972
CA70184220
 338 D>G No ClinGen
TOPMed
CA351619543
rs1274014409
 340 N>D No ClinGen
TOPMed
CA351619584
rs1253000910
 346 L>F No ClinGen
gnomAD
CA70184222
rs375109042
 350 V>G No ClinGen
ESP
gnomAD
rs929756683
CA70184221
 350 V>I No ClinGen
TOPMed
gnomAD
COSM1037602
RCV000501649
rs530007199
CA2258306
 352 E>K Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ClinVar
ExAC
NCI-TCGA
dbSNP
gnomAD
rs530007199
CA70184223
 352 E>Q No ClinGen
ExAC
gnomAD
CA351619651
rs145566594
 356 T>A No ClinGen
gnomAD
rs145566594
CA70184224
 356 T>P No ClinGen
gnomAD
rs1325132092
CA351619661
 357 M>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs767061053
CA2258307
 357 M>V No ClinGen
ExAC
gnomAD
rs1381954870
CA351619670
 359 A>P No ClinGen
TOPMed
CA351619677
rs1438276181
 360 S>A No ClinGen
gnomAD
rs780294601
CA2258308
 361 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA2258309
rs377025335
 363 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371491950
CA2258311
 369 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA351619748
rs1215517121
 370 S>F No ClinGen
gnomAD
CA2258313
rs141683496
 371 E>K No ClinGen
1000Genomes
ExAC
gnomAD
rs1273044250
CA351619756
 372 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA2258314
rs750726364
 375 F>S No ClinGen
ExAC
gnomAD
rs758720345
CA2258315
 378 R>K No ClinGen
ExAC
gnomAD
rs888116131
CA70184225
 379 E>G No ClinGen
TOPMed
CA351619804
RCV000503417
rs1553650533
 379 E>K No ClinGen
ClinVar
Ensembl
dbSNP
rs1443416779
CA351619820
 381 L>V No ClinGen
TOPMed
CA351619830
rs1559533293
 382 K>N No ClinGen
Ensembl
CA351619838
rs1240742379
CA351619839
 383 S>R No ClinGen
TOPMed
gnomAD
rs780238349
CA351619846
 385 R>* No ClinGen
ExAC
gnomAD
CA2258317
rs140204299
 385 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs188622140
CA70184227
 388 F>C No ClinGen
Ensembl
CA351619869
rs1182239192
 389 G>S No ClinGen
TOPMed
rs1233791403
CA351619911
 394 P>H No ClinGen
TOPMed
CA351619977
rs1407041548
 403 N>S No ClinGen
gnomAD
CA2258322
rs773968047
 404 A>T No ClinGen
ExAC
gnomAD
rs745473692
CA2258323
 404 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA351619991
rs1400424764
 406 E>Q No ClinGen
gnomAD
CA70184229
rs968233147
 408 D>V No ClinGen
Ensembl
rs771718768
CA2258324
 410 S>G No ClinGen
ExAC
gnomAD
rs148844673
CA2258325
 410 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1231461827
CA351620033
 411 D>E No ClinGen
gnomAD
TCGA novel 416 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA351620082
rs1283709828
 419 I>V No ClinGen
gnomAD
CA2258344
rs771700358
 426 P>L No ClinGen
ExAC
gnomAD
rs1160189065
CA351467362
 427 G>S No ClinGen
TOPMed
gnomAD
TCGA novel 429 L>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA351467407
rs1393014897
 431 V>M No ClinGen
TOPMed
gnomAD
CA351467426
rs1179543971
 432 K>M No ClinGen
TOPMed
RCV000500036
CA351467428
rs1437186245
 432 K>N No ClinGen
ClinVar
TOPMed
dbSNP
CA2258345
rs779748988
 433 P>L No ClinGen
ExAC
gnomAD
CA69571948
rs896261519
 434 I>T No ClinGen
TOPMed
gnomAD
rs746500248
CA2258346
 434 I>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 436 D>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA69571957
rs1011908622
 437 I>M No ClinGen
TOPMed
rs768103795
CA2258347
 437 I>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 439 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2258351
rs367723779
 444 A>V No ClinGen
ESP
ExAC
TOPMed
CA351467604
rs1442054619
 446 E>K No ClinGen
TOPMed
RCV000118042
rs587780424
CA231410
COSM1669972
 450 K>Q large_intestine [Cosmic] No ClinGen
cosmic curated
ClinVar
Ensembl
dbSNP
CA69572022
rs962987706
 451 L>V No ClinGen
TOPMed
gnomAD
CA2258356
rs759638890
 454 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs186728157
CA2258357
 455 E>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs186728157
CA69572062
 455 E>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA351467736
rs1457864825
 457 S>L No ClinGen
gnomAD
rs1251138457
CA351467743
 458 Q>H No ClinGen
gnomAD
CA351467771
rs1156628228
 463 L>M No ClinGen
TOPMed
rs951599607
CA69572079
 467 M>I No ClinGen
Ensembl
TCGA novel 472 Q>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA351467967
rs1479145908
 475 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs62243567
CA69572109
 477 H>N No ClinGen
Ensembl
CA351468011
rs1333944746
 478 V>G No ClinGen
gnomAD
CA351468004
rs1466241270
 478 V>M No ClinGen
gnomAD
rs975376703
CA69572121
 485 K>R No ClinGen
TOPMed
gnomAD
rs746597317
CA2258363
 486 K>T No ClinGen
ExAC
gnomAD
CA351468112
rs1302451905
 487 T>A No ClinGen
gnomAD
CA2258364
COSM1642075
rs201781800
 487 T>M stomach [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
gnomAD
rs747703645
CA2258366
 488 E>G No ClinGen
ExAC
gnomAD
CA69572133
rs914519822
 492 S>R No ClinGen
gnomAD
CA351468206
rs1200047582
 494 H>P No ClinGen
gnomAD
CA351468217
rs121909244
 495 P>Q No ClinGen
gnomAD
TCGA novel 499 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA

4 associated diseases with P37231

[MIM: 601665]: Obesity (OBESITY)

A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat. {ECO:0000269|PubMed:9753710}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.

[MIM: 604367]: Lipodystrophy, familial partial, 3 (FPLD3)

A form of lipodystrophy characterized by marked loss of subcutaneous fat from the extremities. Facial adipose tissue may be increased, decreased or normal. Affected individuals show an increased preponderance of insulin resistance, diabetes mellitus and dyslipidemia. {ECO:0000269|PubMed:11788685, ECO:0000269|PubMed:12453919}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 137800]: Glioma 1 (GLM1)

Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. {ECO:0000269|PubMed:10851250}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry. Polymorphic PPARG alleles have been found to be significantly over-represented among a cohort of American patients with sporadic glioblastoma multiforme suggesting a possible contribution to disease susceptibility.

Without disease ID
  • A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat. {ECO:0000269|PubMed:9753710}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.
  • A form of lipodystrophy characterized by marked loss of subcutaneous fat from the extremities. Facial adipose tissue may be increased, decreased or normal. Affected individuals show an increased preponderance of insulin resistance, diabetes mellitus and dyslipidemia. {ECO:0000269|PubMed:11788685, ECO:0000269|PubMed:12453919}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. {ECO:0000269|PubMed:10851250}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry. Polymorphic PPARG alleles have been found to be significantly over-represented among a cohort of American patients with sporadic glioblastoma multiforme suggesting a possible contribution to disease susceptibility.

2 regional properties for P37231

Type Name Position InterPro Accession
domain Protein kinase domain 120 - 380 IPR000719
active_site Serine/threonine-protein kinase, active site 239 - 251 IPR008271

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
  • Cytoplasm
  • Redistributed from the nucleus to the cytosol through a MAP2K1/MEK1-dependent manner
  • NOCT enhances its nuclear translocation
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

7 GO annotations of cellular component

Name Definition
chromatin The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
intracellular membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
receptor complex Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.
RNA polymerase II transcription regulator complex A transcription factor complex that acts at a regulatory region of a gene transcribed by RNA polymerase II.

28 GO annotations of molecular function

Name Definition
alpha-actinin binding Binding to alpha-actinin, one of a family of proteins that cross-link F-actin as antiparallel homodimers. Alpha-actinin has a molecular mass of 93-103 KDa; at the N-terminus there are two calponin homology domains, at the C-terminus there are two EF-hands. These two domains are connected by the rod domain. This domain is formed by triple-helical spectrin repeats.
arachidonic acid binding Binding to arachidonic acid, a straight chain fatty acid with 20 carbon atoms and four double bonds per molecule. Arachidonic acid is the all-Z-(5,8,11,14)-isomer.
chromatin binding Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
DNA binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
DNA binding domain binding Binding to a protein's DNA binding domain (DBD).
DNA-binding transcription factor activity A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons.
DNA-binding transcription factor activity, RNA polymerase II-specific A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
DNA-binding transcription factor binding Binding to a DNA-binding transcription factor, a protein that interacts with a specific DNA sequence (sometimes referred to as a motif) within the regulatory region of a gene to modulate transcription.
DNA-binding transcription repressor activity, RNA polymerase II-specific A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets transcribed by RNA polymerase II.
double-stranded DNA binding Binding to double-stranded DNA.
E-box binding Binding to an E-box, a DNA motif with the consensus sequence CANNTG that is found in the promoters of a wide array of genes expressed in neurons, muscle and other tissues.
enzyme binding Binding to an enzyme, a protein with catalytic activity.
identical protein binding Binding to an identical protein or proteins.
LBD domain binding Binding to a protein's ligand binding domain (LBD) domain, found in nuclear receptors. In general, the LBDs consist of three layers comprised of twelve alpha-helices and several beta-strands that are organized around a lipophilic ligand-binding pocket.
nuclear receptor activity A DNA-binding transcription factor activity regulated by binding to a ligand that modulates the transcription of specific gene sets transcribed by RNA polymerase II. Nuclear receptor ligands are usually lipid-based (such as a steroid hormone) and the binding of the ligand to its receptor often occurs in the cytoplasm, which leads to its tranlocation to the nucleus.
nuclear retinoid X receptor binding Binding to a nuclear retinoid X receptor.
nucleic acid binding Binding to a nucleic acid.
peptide binding Binding to a peptide, an organic compound comprising two or more amino acids linked by peptide bonds.
prostaglandin receptor activity Combining with a prostaglandin (PG) to initiate a change in cell activity.
protein C-terminus binding Binding to a protein C-terminus, the end of a peptide chain at which the 1-carboxyl function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue.
protein self-association Binding to a domain within the same polypeptide.
R-SMAD binding Binding to a receptor-regulated SMAD signaling protein.
RNA polymerase II cis-regulatory region sequence-specific DNA binding Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
sequence-specific DNA binding Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding.
STAT family protein binding Binding to a member of the signal transducers and activators of transcription (STAT) protein family. STATs are, as the name indicates, both signal transducers and transcription factors. STATs are activated by cytokines and some growth factors and thus control important biological processes including cell growth, cell differentiation, apoptosis and immune responses.
transcription cis-regulatory region binding Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon.
transcription coregulator binding Binding to a transcription coregulator, a protein involved in regulation of transcription via protein-protein interactions with transcription factors and other transcription regulatory proteins. Cofactors do not bind DNA directly, but rather mediate protein-protein interactions between regulatory transcription factors and the basal transcription machinery.
zinc ion binding Binding to a zinc ion (Zn).

77 GO annotations of biological process

Name Definition
activation of cysteine-type endopeptidase activity involved in apoptotic process Any process that initiates the activity of the inactive enzyme cysteine-type endopeptidase in the context of an apoptotic process.
BMP signaling pathway The series of molecular signals initiated by the binding of a member of the BMP (bone morphogenetic protein) family to a receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
cell differentiation The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
cell fate commitment The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field.
cell maturation A developmental process, independent of morphogenetic (shape) change, that is required for a cell to attain its fully functional state.
cellular response to hypoxia Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level.
cellular response to insulin stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms.
cellular response to low-density lipoprotein particle stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a low-density lipoprotein particle stimulus.
epithelial cell differentiation The process in which a relatively unspecialized cell acquires specialized features of an epithelial cell, any of the cells making up an epithelium.
fatty acid metabolic process The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis.
glucose homeostasis Any process involved in the maintenance of an internal steady state of glucose within an organism or cell.
hormone-mediated signaling pathway The series of molecular signals mediated by the detection of a hormone.
innate immune response Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
lipid homeostasis Any process involved in the maintenance of an internal steady state of lipid within an organism or cell.
lipid metabolic process The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids.
lipoprotein transport The directed movement of any conjugated, water-soluble protein in which the nonprotein group consists of a lipid or lipids, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
long-chain fatty acid transport The directed movement of long-chain fatty acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A long-chain fatty acid is a fatty acid with a chain length between C13 and C22.
macrophage derived foam cell differentiation The process in which a monocyte acquires the specialized features of a foam cell. A foam cell is a type of cell containing lipids in small vacuoles and typically seen in atherosclerotic lesions, as well as other conditions.
monocyte differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a monocyte.
mRNA transcription by RNA polymerase II The cellular synthesis of messenger RNA (mRNA) from a DNA template by RNA polymerase II, originating at an RNA polymerase II promoter.
negative regulation of angiogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of angiogenesis.
negative regulation of blood vessel endothelial cell migration Any process that stops, prevents, or reduces the frequency, rate or extent of the migration of the endothelial cells of blood vessels.
negative regulation of BMP signaling pathway Any process that stops, prevents, or reduces the frequency, rate or extent of the BMP signaling pathway.
negative regulation of cardiac muscle hypertrophy in response to stress Any process that stops, prevents or reduces the frequency, rate or extent of cardiac muscle hypertrophy in response to stress.
negative regulation of cellular response to transforming growth factor beta stimulus Any process that stops, prevents or reduces the frequency, rate or extent of cellular response to transforming growth factor beta stimulus.
negative regulation of cholesterol storage Any process that decreases the rate or extent of cholesterol storage. Cholesterol storage is the accumulation and maintenance in cells or tissues of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones.
negative regulation of connective tissue replacement involved in inflammatory response wound healing Any process that stops, prevents or reduces the frequency, rate or extent of connective tissue replacement involved in inflammatory response wound healing.
negative regulation of DNA-templated transcription Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
negative regulation of gene expression Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
negative regulation of inflammatory response Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response.
negative regulation of interferon-gamma-mediated signaling pathway Any process that decreases the rate, frequency or extent of an interferon-gamma-mediated signaling pathway.
negative regulation of lipid storage Any process that decreases the rate, frequency or extent of lipid storage. Lipid storage is the accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development.
negative regulation of macrophage derived foam cell differentiation Any process that decreases the rate, frequency or extent of macrophage derived foam cell differentiation. Macrophage derived foam cell differentiation is the process in which a macrophage acquires the specialized features of a foam cell. A foam cell is a type of cell containing lipids in small vacuoles and typically seen in atherosclerotic lesions, as well as other conditions.
negative regulation of MAP kinase activity Any process that stops, prevents, or reduces the frequency, rate or extent of MAP kinase activity.
negative regulation of miRNA transcription Any process that stops, prevents or reduces the frequency, rate or extent of microRNA (miRNA) gene transcription.
negative regulation of miRNA-mediated gene silencing A process that decreases the rate, frequency, or extent of gene silencing by a microRNA (miRNA).
negative regulation of mitochondrial fission Any process that decreases the rate, frequency or extent of mitochondrial fission. Mitochondrial fission is the division of a mitochondrion within a cell to form two or more separate mitochondrial compartments.
negative regulation of osteoblast differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of osteoblast differentiation.
negative regulation of pathway-restricted SMAD protein phosphorylation Any process that decreases the rate, frequency or extent of pathway-restricted SMAD protein phosphorylation. Pathway-restricted SMAD proteins and common-partner SMAD proteins are involved in the transforming growth factor beta receptor signaling pathways.
negative regulation of receptor signaling pathway via STAT Any process that stops, prevents or reduces the frequency, rate or extent of receptor signaling via STAT.
negative regulation of sequestering of triglyceride Any process that decreases the rate, frequency or extent of sequestering of triglyceride. Triglyceride sequestration is the process of binding or confining any triester of glycerol such that it is separated from other components of a biological system.
negative regulation of signaling receptor activity Any process that stops, prevents or reduces the frequency, rate or extent of a signaling receptor activity.
negative regulation of SMAD protein signal transduction Any process that decreases the rate, frequency or extent of the SMAD protein signaling pathway. Pathway-restricted SMAD proteins and common-partner SMAD proteins are involved in the transforming growth factor beta receptor signaling pathways.
negative regulation of smooth muscle cell proliferation Any process that stops, prevents or reduces the rate or extent of smooth muscle cell proliferation.
negative regulation of transcription by RNA polymerase II Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
negative regulation of transforming growth factor beta receptor signaling pathway Any process that stops, prevents, or reduces the frequency, rate or extent of any TGF-beta receptor signaling pathway.
negative regulation of vascular associated smooth muscle cell proliferation Any process that stops, prevents or reduces the frequency, rate or extent of vascular smooth muscle cell proliferation.
negative regulation of vascular endothelial cell proliferation Any process that stops, prevents or reduces the frequency, rate or extent of vascular endothelial cell proliferation.
peroxisome proliferator activated receptor signaling pathway The series of molecular signals initiated by binding of a ligand to any of the peroxisome proliferator activated receptors (alpha, beta or gamma) in the nuclear membrane, and ending with the initiation or termination of the transcription of target genes.
placenta development The process whose specific outcome is the progression of the placenta over time, from its formation to the mature structure. The placenta is an organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin.
positive regulation of adiponectin secretion Any process that activates or increases the frequency, rate or extent of the regulated release of adiponectin from a cell.
positive regulation of adipose tissue development Any process that activates or increases the frequency, rate or extent of adipose tissue development.
positive regulation of cholesterol efflux Any process that increases the frequency, rate or extent of cholesterol efflux. Cholesterol efflux is the directed movement of cholesterol, cholest-5-en-3-beta-ol, out of a cell or organelle.
positive regulation of DNA binding Any process that increases the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid).
positive regulation of DNA-binding transcription factor activity Any process that activates or increases the frequency, rate or extent of activity of a transcription factor, any factor involved in the initiation or regulation of transcription.
positive regulation of DNA-templated transcription Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of fat cell differentiation Any process that activates or increases the frequency, rate or extent of adipocyte differentiation.
positive regulation of fatty acid metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving fatty acids.
positive regulation of gene expression Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of low-density lipoprotein receptor activity Any process that activates or increases the frequency, rate or extent of low-density lipoprotein receptor activity.
positive regulation of miRNA transcription Any process that activates or increases the frequency, rate or extent of microRNA (miRNA) gene transcription.
positive regulation of pathway-restricted SMAD protein phosphorylation Any process that increases the rate, frequency or extent of pathway-restricted SMAD protein phosphorylation. Pathway-restricted SMAD proteins and common-partner SMAD proteins are involved in the transforming growth factor beta receptor signaling pathways.
positive regulation of SMAD protein signal transduction Any process that increases the rate, frequency or extent of SMAD protein signal transduction. Pathway-restricted SMAD proteins and common-partner SMAD proteins are involved in the transforming growth factor beta receptor signaling pathways.
positive regulation of transcription by RNA polymerase II Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
positive regulation of vascular associated smooth muscle cell apoptotic process Any process that activates or increases the frequency, rate or extent of vascular associated smooth muscle cell apoptotic process.
regulation of blood pressure Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure.
regulation of cellular response to insulin stimulus Any process that modulates the frequency, rate or extent of cellular response to insulin stimulus.
regulation of cholesterol transporter activity Any process that modulates the rate, frequency, or extent of cholesterol transporter activity.
regulation of circadian rhythm Any process that modulates the frequency, rate or extent of a circadian rhythm. A circadian rhythm is a biological process in an organism that recurs with a regularity of approximately 24 hours.
regulation of lipid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipids.
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
response to lipid Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus.
response to nutrient Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nutrient stimulus.
retinoic acid receptor signaling pathway The series of molecular signals generated as a consequence of a retinoic acid receptor binding to one of its physiological ligands.
rhythmic process Any process pertinent to the generation and maintenance of rhythms in the physiology of an organism.
signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
white fat cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a white adipocyte, an animal connective tissue cell involved in energy storage. White adipocytes have cytoplasmic lipids arranged in a unique vacuole.

29 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9TTR7 NR2F2 COUP transcription factor 2 Bos taurus (Bovine) PR
O18971 PPARG Peroxisome proliferator-activated receptor gamma Bos taurus (Bovine) PR
Q90733 NR2F2 COUP transcription factor 2 Gallus gallus (Chicken) PR
P68306 THRB Thyroid hormone receptor beta Gallus gallus (Chicken) PR
A7X8B3 PGR Progesterone receptor Pan troglodytes (Chimpanzee) SS
P10588 NR2F6 Nuclear receptor subfamily 2 group F member 6 Homo sapiens (Human) PR
P06401 PGR Progesterone receptor Homo sapiens (Human) EV
P10589 NR2F1 COUP transcription factor 1 Homo sapiens (Human) PR
P24468 NR2F2 COUP transcription factor 2 Homo sapiens (Human) PR
P49116 NR2C2 Nuclear receptor subfamily 2 group C member 2 Homo sapiens (Human) PR
O75469 NR1I2 Nuclear receptor subfamily 1 group I member 2 Homo sapiens (Human) PR
Q14995 NR1D2 Nuclear receptor subfamily 1 group D member 2 Homo sapiens (Human) PR
P35396 Ppard Peroxisome proliferator-activated receptor delta Mus musculus (Mouse) PR
P43136 Nr2f6 Nuclear receptor subfamily 2 group F member 6 Mus musculus (Mouse) PR
P43135 Nr2f2 COUP transcription factor 2 Mus musculus (Mouse) PR
Q00175 Pgr Progesterone receptor Mus musculus (Mouse) SS
Q9Z0Y9 Nr1h3 Oxysterols receptor LXR-alpha Mus musculus (Mouse) PR
O62807 PPARG Peroxisome proliferator-activated receptor gamma Sus scrofa (Pig) PR
O09018 Nr2f2 COUP transcription factor 2 Rattus norvegicus (Rat) PR
Q63449 Pgr Progesterone receptor Rattus norvegicus (Rat) SS
Q8SQ01 NR1I2 Nuclear receptor subfamily 1 group I member 2 Macaca mulatta (Rhesus macaque) PR
G5EFF5 daf-12 Nuclear hormone receptor family member daf-12 Caenorhabditis elegans PR
O45460 nhr-54 Nuclear hormone receptor family member nhr-54 Caenorhabditis elegans PR
Q21006 nhr-34 Nuclear hormone receptor family member nhr-34 Caenorhabditis elegans PR
O17928 nhr-52 Nuclear hormone receptor family member nhr-52 Caenorhabditis elegans PR
Q21878 nhr-1 Nuclear hormone receptor family member nhr-1 Caenorhabditis elegans PR
O18141 nhr-79 Nuclear hormone receptor family member nhr-79 Caenorhabditis elegans PR
Q20765 nhr-7 Nuclear hormone receptor family member nhr-7 Caenorhabditis elegans PR
Q6PH18 nr2f1b Nuclear receptor subfamily 2 group F member 1-B Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MGETLGDSPI DPESDSFTDT LSANISQEMT MVDTEMPFWP TNFGISSVDL SVMEDHSHSF
70 80 90 100 110 120
DIKPFTTVDF SSISTPHYED IPFTRTDPVV ADYKYDLKLQ EYQSAIKVEP ASPPYYSEKT
130 140 150 160 170 180
QLYNKPHEEP SNSLMAIECR VCGDKASGFH YGVHACEGCK GFFRRTIRLK LIYDRCDLNC
190 200 210 220 230 240
RIHKKSRNKC QYCRFQKCLA VGMSHNAIRF GRMPQAEKEK LLAEISSDID QLNPESADLR
250 260 270 280 290 300
ALAKHLYDSY IKSFPLTKAK ARAILTGKTT DKSPFVIYDM NSLMMGEDKI KFKHITPLQE
310 320 330 340 350 360
QSKEVAIRIF QGCQFRSVEA VQEITEYAKS IPGFVNLDLN DQVTLLKYGV HEIIYTMLAS
370 380 390 400 410 420
LMNKDGVLIS EGQGFMTREF LKSLRKPFGD FMEPKFEFAV KFNALELDDS DLAIFIAVII
430 440 450 460 470 480
LSGDRPGLLN VKPIEDIQDN LLQALELQLK LNHPESSQLF AKLLQKMTDL RQIVTEHVQL
490 500
LQVIKKTETD MSLHPLLQEI YKDLY