Descriptions

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

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q96AX2

Entry ID Method Resolution Chain Position Source
AF-Q96AX2-F1 Predicted AlphaFoldDB

188 variants for Q96AX2

Variant ID(s) Position Change Description Diseaes Association Provenance
rs766791134 18 R>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1385555512
CA400942476
39 G>S No ClinGen
gnomAD
CA400942489
rs750256354
40 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA8750192
rs750256354
40 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs149746610
CA8750194
41 G>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs149746610
CA8750193
41 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA400942522
rs746975143
44 C>R No ClinGen
ExAC
TOPMed
gnomAD
CA8750195
rs746975143
44 C>S No ClinGen
ExAC
TOPMed
gnomAD
rs1248364080
CA400942602
51 D>N No ClinGen
gnomAD
rs1334325571
CA400942618
52 G>E No ClinGen
TOPMed
COSM1290755
CA8750197
rs777757102
CA293957990
52 G>R haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs749330487
CA8750198
53 A>V No ClinGen
ExAC
gnomAD
rs969539196
CA293957993
56 S>F No ClinGen
TOPMed
TCGA novel 57 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8750201
rs746236671
CA400942659
57 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA8750203
rs772385837
58 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA8750202
rs772385837
58 T>N No ClinGen
ExAC
TOPMed
gnomAD
CA400942685
rs764620456
60 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA400942687
rs1254894593
60 I>T No ClinGen
gnomAD
CA8750205
rs764620456
60 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA400942704
rs1428644657
62 T>A No ClinGen
TOPMed
gnomAD
rs140394994
CA8750207
63 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs868407548
CA293958015
64 G>D No ClinGen
Ensembl
CA8750210
rs199750680
64 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8750209
rs199750680
64 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8750222
rs772318569
70 K>E No ClinGen
ExAC
gnomAD
rs560133058
CA8750223
71 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA400932005
rs1358866411
72 V>A No ClinGen
gnomAD
TCGA novel 73 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400932068
rs1290711788
76 G>D No ClinGen
TOPMed
gnomAD
CA400932073
rs1290711788
76 G>V No ClinGen
TOPMed
gnomAD
rs145019795
CA8750228
77 V>M No ClinGen
ESP
ExAC
gnomAD
CA8750229
rs772822712
80 K>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8750231
rs766017145
82 Q>P No ClinGen
ExAC
gnomAD
rs766017145
CA400932165
82 Q>R No ClinGen
ExAC
gnomAD
rs1373729851
CA400932200
83 I>T No ClinGen
gnomAD
rs1225238831
CA400932203
84 W>G No ClinGen
gnomAD
CA293917663
rs910837302
84 W>S No ClinGen
Ensembl
CA8750246
rs772882123
COSM1479973
COSM1479972
COSM1479971
87 A>T Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs146780541
CA8750247
88 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8750249
rs770507152
91 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs759107202
CA8750250
91 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs770507152
COSM562159
CA8750248
COSM562161
COSM562160
91 R>W lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM984111
COSM984113
CA8750252
rs150761775
COSM984112
93 R>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs760647591
CA8750253
93 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1309701458
CA400932361
94 S>G No ClinGen
gnomAD
CA400932377
rs763968925
94 S>R No ClinGen
ExAC
TOPMed
gnomAD
COSM1385804
CA8750255
COSM1385805
COSM1385803
rs143690968
95 V>I large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs929071371
CA293917720
97 H>R No ClinGen
gnomAD
rs1439304096
CA400932417
97 H>Y No ClinGen
gnomAD
COSM3796050
COSM3796048
COSM3796049
CA293917747
rs527644258
101 R>K Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
NCI-TCGA
rs1403558405
CA400932512
102 D>N No ClinGen
gnomAD
rs1347003953
CA400932542
104 Q>* No ClinGen
TOPMed
CA293917813
rs71361632
106 L>FV No ClinGen
Ensembl
CA8750272
rs148142349
107 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8750274
rs761638080
108 L>P No ClinGen
ExAC
gnomAD
rs909850875
CA400932583
109 L>V No ClinGen
TOPMed
rs1220928465
CA400932591
110 Y>C No ClinGen
gnomAD
CA400932597
rs1317747597
111 D>N No ClinGen
gnomAD
rs1436408440
CA400932622
114 N>K No ClinGen
TOPMed
CA8750277
rs755279933
116 S>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs767801558
CA8750278
118 F>C No ClinGen
ExAC
TOPMed
gnomAD
CA8750279
rs767801558
118 F>S No ClinGen
ExAC
TOPMed
gnomAD
CA8750281
rs370945537
119 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1478781668
CA400932661
120 N>I No ClinGen
gnomAD
rs949231586
CA293917923
121 I>S No ClinGen
TOPMed
gnomAD
CA8750282
rs749864575
122 R>G No ClinGen
ExAC
gnomAD
rs757683419
CA8750283
122 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA8750284
rs757683419
122 R>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 123 A>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1303907212
CA400933574
124 W>* No ClinGen
gnomAD
rs751558943
CA293918646
125 L>F No ClinGen
Ensembl
rs200513132
CA400933586
126 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs200513132
CA8750307
126 T>N No ClinGen
ExAC
TOPMed
gnomAD
CA400933594
rs1232965464
127 E>D No ClinGen
gnomAD
rs1241391747
CA400933613
130 E>V No ClinGen
TOPMed
CA8750309
rs769786339
132 A>G No ClinGen
ExAC
gnomAD
CA8750310
rs772174577
133 Q>P No ClinGen
ExAC
TOPMed
gnomAD
CA400933640
rs1221144245
134 R>K No ClinGen
TOPMed
CA8750314
rs147358898
CA400933649
135 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8750311
rs762982946
135 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8750312
rs143298131
135 D>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs762014090
CA8750317
136 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA8750315
rs764185728
136 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA8750316
rs764185728
136 V>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 136 V>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400933653
rs1182254894
137 V>M No ClinGen
gnomAD
rs1157534806
CA400933673
139 M>I No ClinGen
gnomAD
rs750982235
CA8750319
139 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA8750320
rs758877227
140 L>R No ClinGen
ExAC
gnomAD
CA400933685
rs1295856023
142 G>A No ClinGen
gnomAD
CA8750321
rs779578722
142 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA400933688
rs1479157700
143 N>D No ClinGen
TOPMed
CA293918775
rs112606240
143 N>S No ClinGen
Ensembl
rs1555595919
CA400933698
144 K>T No ClinGen
Ensembl
CA8750374
rs748208881
145 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA400933717
rs748208881
145 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA8750375
rs770015617
146 D>A No ClinGen
ExAC
gnomAD
rs773354446
CA8750376
147 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA400933727
rs1358558768
147 M>K No ClinGen
gnomAD
CA293919239
rs936156108
147 M>V No ClinGen
TOPMed
gnomAD
rs1233402952
CA400933735
148 S>N No ClinGen
TOPMed
rs1369400532
CA400933742
149 S>G No ClinGen
gnomAD
rs201839620
CA293919245
149 S>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 150 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774756333
CA8750379
150 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs137872401
CA8750378
150 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400933757
rs1241703012
151 R>K No ClinGen
gnomAD
TCGA novel 151 R>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400933764
rs1598331248
152 V>A No ClinGen
Ensembl
CA400933765
rs1598331248
152 V>G No ClinGen
Ensembl
rs907993927
CA293919287
153 I>T No ClinGen
Ensembl
CA293919294
rs543387119
154 R>C No ClinGen
1000Genomes
gnomAD
rs149486886
CA8750380
154 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs149486886
CA8750381
154 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs149486886
CA400933774
154 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8750384
rs774889397
156 E>K No ClinGen
ExAC
gnomAD
CA400933792
rs895360538
157 D>E No ClinGen
TOPMed
CA8750385
rs760208960
157 D>H No ClinGen
ExAC
gnomAD
CA8750386
rs760208960
157 D>N No ClinGen
ExAC
gnomAD
rs143915644
CA8750388
158 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400933799
rs1424800509
159 E>Q No ClinGen
gnomAD
CA400933809
rs1567817135
160 T>A No ClinGen
Ensembl
CA400933817
rs756945292
160 T>I No ClinGen
ExAC
gnomAD
CA8750389
rs756945292
160 T>N No ClinGen
ExAC
gnomAD
rs1160533812
CA400933829
161 L>F No ClinGen
gnomAD
rs1427279841
CA400933826
161 L>S No ClinGen
TOPMed
rs374935761
CA8750390
163 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400933850
rs1598331346
163 R>S No ClinGen
Ensembl
rs963741004
CA293919502
164 E>G No ClinGen
Ensembl
rs762740730
CA400933916
165 Y>* No ClinGen
ExAC
TOPMed
gnomAD
rs867840244
CA293919509
166 G>D No ClinGen
Ensembl
rs766081840
CA8750411
166 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs751557494
CA8750412
168 P>S No ClinGen
ExAC
gnomAD
CA400933993
rs1328925117
172 T>N No ClinGen
gnomAD
CA400934010
rs977071609
173 S>R No ClinGen
gnomAD
CA400933999
rs1375693483
173 S>R No ClinGen
gnomAD
CA8750413
rs754889461
174 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1227060514
CA400934043
176 T>A No ClinGen
gnomAD
rs777871045
CA8750414
176 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA8750415
rs148637613
178 M>V No ClinGen
ESP
ExAC
gnomAD
rs1167229844
CA400934154
181 E>D No ClinGen
TOPMed
rs779143134
CA8750417
182 L>* No ClinGen
ExAC
gnomAD
CA400934182
rs1256474430
182 L>F No ClinGen
gnomAD
rs1567817307
CA400934248
186 A>T No ClinGen
Ensembl
rs772557537
CA8750419
187 I>M No ClinGen
ExAC
gnomAD
TCGA novel 187 I>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs746225239
CA8750418
187 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs34215331
VAR_034434
CA293919631
188 A>P No ClinGen
UniProt
ExAC
TOPMed
dbSNP
gnomAD
rs34215331
CA8750421
188 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs775475701
CA8750462
190 E>K No ClinGen
ExAC
gnomAD
rs775475701
CA400934408
190 E>Q No ClinGen
ExAC
gnomAD
rs1452003879
CA400934431
191 L>R No ClinGen
gnomAD
CA293919960
rs914677226
193 Y>N No ClinGen
TOPMed
CA8750466
rs150021744
194 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8750465
rs150021744
194 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8750464
rs765394498
194 R>W No ClinGen
ExAC
TOPMed
CA8750468
CA8750469
rs139440620
196 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM361180
CA400934509
COSM361181
COSM361182
rs1158729238
196 G>V lung [Cosmic] No ClinGen
cosmic curated
gnomAD
rs781678010
CA400934514
197 H>D No ClinGen
ExAC
gnomAD
rs1567817566
CA400934523
197 H>Q No ClinGen
Ensembl
CA8750471
rs200335281
197 H>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs781678010
CA8750470
197 H>Y No ClinGen
ExAC
gnomAD
CA8750472
rs756549615
198 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs368389878
CA8750473
198 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400934551
rs748698308
199 A>E No ClinGen
ExAC
gnomAD
rs748698308
CA8750474
199 A>V No ClinGen
ExAC
gnomAD
rs534120632
CA8750476
200 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA8750477
rs745519873
201 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1310103092
CA400934606
202 P>L No ClinGen
gnomAD
COSM1385811
COSM1385809
COSM1385810
CA400934658
rs1356004989
205 Q>R large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
CA8750478
rs771915095
206 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs760695554
CA400934690
207 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs763884748
CA8750481
207 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs202002183
CA8750482
208 D>A No ClinGen
1000Genomes
ExAC
gnomAD
CA293920073
rs951347274
209 Y>D No ClinGen
TOPMed
gnomAD
CA293920065
rs951347274
209 Y>H No ClinGen
TOPMed
gnomAD
CA8750484
rs766562014
211 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA400934783
rs1180452795
212 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs898251293
CA293920079
214 K>E No ClinGen
TOPMed
rs759808920
CA8750486
215 K>Q No ClinGen
ExAC
gnomAD
rs768035222
CA8750487
216 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs537134838
CA8750488
216 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1175113339
CA400934859
220 C>G No ClinGen
TOPMed
rs201555817
CA8750489
221 S>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 222 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1306312077
CA400934925
223 M>I No ClinGen
gnomAD
CA8750490
rs778084858
223 M>V No ClinGen
ExAC
TOPMed
gnomAD

No associated diseases with Q96AX2

1 regional properties for Q96AX2

Type Name Position InterPro Accession
domain Small GTP-binding protein domain 29 - 184 IPR005225

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasmic vesicle
  • Secretory granules
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

6 GO annotations of cellular component

Name Definition
azurophil granule membrane The lipid bilayer surrounding an azurophil granule, a primary lysosomal granule found in neutrophil granulocytes that contains a wide range of hydrolytic enzymes and is released into the extracellular fluid.
endoplasmic reticulum-Golgi intermediate compartment A complex system of membrane-bounded compartments located between endoplasmic reticulum (ER) and the Golgi complex, with a distinctive membrane protein composition; involved in ER-to-Golgi and Golgi-to-ER transport.
endosome A vacuole to which materials ingested by endocytosis are delivered.
Golgi apparatus A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
specific granule membrane The lipid bilayer surrounding a specific granule, a granule with a membranous, tubular internal structure, found primarily in mature neutrophil cells. Most are released into the extracellular fluid. Specific granules contain lactoferrin, lysozyme, vitamin B12 binding protein and elastase.

2 GO annotations of molecular function

Name Definition
GTP binding Binding to GTP, guanosine triphosphate.
GTPase activity Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate.

1 GO annotations of biological process

Name Definition
protein transport The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.

9 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9H082 RAB33B Ras-related protein Rab-33B Homo sapiens (Human) PR
Q9JKM7 Rab37 Ras-related protein Rab-37 Mus musculus (Mouse) PR
P25766 RGP1 Ras-related protein RGP1 Oryza sativa subsp japonica (Rice) PR
Q9LNK1 RABA3 Ras-related protein RABA3 Arabidopsis thaliana (Mouse-ear cress) PR
O04486 RABA2A Ras-related protein RABA2a Arabidopsis thaliana (Mouse-ear cress) PR
Q9LNW1 RABA2B Ras-related protein RABA2b Arabidopsis thaliana (Mouse-ear cress) PR
Q9LH50 RABA4D Ras-related protein RABA4d Arabidopsis thaliana (Mouse-ear cress) PR
Q9FE79 RABA4C Ras-related protein RABA4c Arabidopsis thaliana (Mouse-ear cress) PR
Q9SJZ5 RABA4E Putative Ras-related protein RABA4e Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MTGTPGAVAT RDGEAPERSP PCSPSYDLTG KVMLLGDTGV GKTCFLIQFK DGAFLSGTFI
70 80 90 100 110 120
ATVGIDFRNK VVTVDGVRVK LQIWDTAGQE RFRSVTHAYY RDAQALLLLY DITNKSSFDN
130 140 150 160 170 180
IRAWLTEIHE YAQRDVVIML LGNKADMSSE RVIRSEDGET LAREYGVPFL ETSAKTGMNV
190 200 210 220
ELAFLAIAKE LKYRAGHQAD EPSFQIRDYV ESQKKRSSCC SFM