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 Q8TC36

Entry ID Method Resolution Chain Position Source
AF-Q8TC36-F1 Predicted AlphaFoldDB

348 variants for Q8TC36

Variant ID(s) Position Change Description Diseaes Association Provenance
VAR_077983 114 G>R SPGF16; loss of protein expression; impaired localization to nuclear inner membrane [UniProt] Yes UniProt
rs781693813
RCV001386508
RCV000258580
128 V>missing Spermatogenic failure 16 [ClinVar] Yes ClinVar
dbSNP
VAR_080157 159 R>del SPGF16; in mouse model abolishes interaction with DNAJB13 [UniProt] Yes UniProt
RCV000258762
CA10602641
rs886041023
VAR_077984
162 M>K Spermatogenic failure 16 SPGF16; unknown pathological significance; in mouse model increases interaction with DNAJB13; impaired localization to nuclear inner membrane [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV000258689
CA10602642
rs886041024
VAR_077985
261 V>M Spermatogenic failure 16 SPGF16; unknown pathological significance; in mouse model decreases protein solubility as well as impairs nuclear inner membrane location and decreases interaction with DNAJB13 [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
CA9811684
VAR_077986
RCV000258589
rs756459525
275 T>M Spermatogenic failure 16 SPGF16; significant reduction in protein expression; impaired localization to nuclear inner membrane; in mouse model decreases interaction with DNAJB13 [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
ExAC
TOPMed
dbSNP
gnomAD
rs886041025
CA10602643
RCV000258508
284 S>* Spermatogenic failure 16 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
VAR_080158 284 S>del SPGF16; significant reduction in protein expression; impaired localization to nuclear inner membrane; in mouse model decreases interaction with DNAJB13 [UniProt] Yes UniProt
VAR_077987
CA9811606
rs758335571
348 N>I Variant assessed as Somatic; 0.0 impact. SPGF16; loss of protein expression; in mouse model impairs nuclear inner membrane location and decreases interaction with DNAJB13 [NCI-TCGA, UniProt] Yes ClinGen
UniProt
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
RCV001172141
RCV000258695
rs754130052
CA9811602
VAR_077988
356 R>C Spermatogenic failure 16 SPGF16; unknown pathological significance; in mouse model impairs nuclear inner membrane location and decreases interaction with DNAJB13 [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
ExAC
TOPMed
dbSNP
gnomAD
CA9812061
rs764719912
2 P>L No ClinGen
ExAC
gnomAD
TCGA novel 2 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9812059
rs111516221
3 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9812060
rs111516221
3 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9812058
rs111516221
3 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA408597192
rs1230619814
3 R>W No ClinGen
gnomAD
CA408597145
rs1223568139
8 P>A No ClinGen
TOPMed
TCGA novel 8 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs867307941
CA313162771
9 G>V No ClinGen
Ensembl
rs767217191
CA9812055
13 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA408597088
rs1291597786
14 L>P No ClinGen
TOPMed
gnomAD
CA9812054
rs146501259
14 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
VAR_015147
rs3746387
CA9812051
16 E>K No ClinGen
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs1277809636
CA408597036
17 D>G No ClinGen
gnomAD
rs1419827332
CA408597007
19 A>S No ClinGen
TOPMed
CA408596986
rs150764014
20 H>Q No ClinGen
1000Genomes
gnomAD
CA408596987
rs1331799928
20 H>R No ClinGen
gnomAD
CA408596926
rs1475428248
24 P>S No ClinGen
TOPMed
rs929302638
CA313162702
25 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA9812050
rs775361419
25 R>W No ClinGen
ExAC
gnomAD
rs867518817
CA313162695
26 R>M No ClinGen
Ensembl
rs1215617770
CA408596181
27 I>M No ClinGen
gnomAD
CA9812031
rs775414324
27 I>T No ClinGen
ExAC
gnomAD
rs769663027
CA9812030
28 A>T No ClinGen
ExAC
gnomAD
rs776687506
CA9812028
29 Q>H No ClinGen
ExAC
gnomAD
CA9812027
rs566258635
COSM1025836
30 R>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9812025
rs749321471
30 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA9812023
rs149962354
32 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9812024
rs780457500
COSM3713227
32 R>W upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA9812021
rs755534669
34 T>I No ClinGen
ExAC
gnomAD
CA313161352
rs919486709
34 T>P No ClinGen
TOPMed
gnomAD
CA9812020
rs373112250
36 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369400735
CA9812019
38 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs369400735
CA9812018
38 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA408595944
rs1468810771
38 A>V No ClinGen
gnomAD
VAR_026677
CA9812017
CA9812016
rs1133358
39 E>D No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA408595871
rs1463118268
41 T>N No ClinGen
TOPMed
rs986232208
CA313161258
43 P>S No ClinGen
TOPMed
CA313161256
rs953550012
45 M>V No ClinGen
TOPMed
rs896854747
CA313160905
47 D>G No ClinGen
TOPMed
rs1025063465
CA313160883
51 L>F No ClinGen
Ensembl
rs1479719971
CA408595535
51 L>S No ClinGen
gnomAD
CA408595517
rs1250944596
52 P>S No ClinGen
gnomAD
rs545141910
CA9811992
53 V>I No ClinGen
1000Genomes
ExAC
gnomAD
rs577770806
CA9811991
54 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs556386557
COSM1411154
CA9811990
54 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1377583463
CA408595437
56 N>S No ClinGen
gnomAD
CA9811988
rs774663257
57 D>V No ClinGen
ExAC
gnomAD
rs769177201
CA9811987
59 A>T No ClinGen
ExAC
gnomAD
rs749601030
CA9811986
61 G>V No ClinGen
ExAC
gnomAD
CA9811984
rs142180786
63 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA408595318
rs1367777026
64 Q>* No ClinGen
gnomAD
CA408595312
CA408595310
rs1162078675
64 Q>H No ClinGen
gnomAD
CA9811983
rs746568409
66 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs1364915456
CA408595275
66 M>T No ClinGen
gnomAD
rs777306625
CA408595264
67 L>M No ClinGen
ExAC
gnomAD
rs758097209
CA9811981
67 L>P No ClinGen
ExAC
gnomAD
CA408595261
rs758097209
67 L>Q No ClinGen
ExAC
gnomAD
CA9811980
rs747822378
68 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs199513550
CA9811959
71 S>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA408595218
rs1309052310
72 W>* No ClinGen
TOPMed
CA408595220
rs374069533
72 W>* No ClinGen
gnomAD
CA313159467
rs374069533
72 W>S No ClinGen
gnomAD
rs749074311
CA9811958
74 T>I No ClinGen
ExAC
gnomAD
CA408595198
rs1224856994
75 C>Y No ClinGen
gnomAD
CA408595193
rs1320856386
76 F>L No ClinGen
gnomAD
rs1490786439
CA408595165
80 L>V No ClinGen
TOPMed
rs1327321153
CA408595159
81 R>K No ClinGen
gnomAD
rs1222743955
CA408595150
COSM1411153
82 T>S large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs1298200989
CA408595139
84 A>T No ClinGen
gnomAD
rs775572724
CA9811955
84 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs781211808
CA9811954
86 Q>H No ClinGen
ExAC
gnomAD
CA408595120
rs1338003872
87 V>I No ClinGen
gnomAD
CA408595110
rs1470984414
88 L>R No ClinGen
gnomAD
rs757428690
CA9811953
90 N>I No ClinGen
ExAC
TOPMed
gnomAD
CA408595073
rs769922427
91 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs769922427
CA9811952
91 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA408595059
rs1460625725
92 C>F No ClinGen
gnomAD
CA408595063
rs1374526282
92 C>R No ClinGen
gnomAD
CA9811937
rs745594083
97 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs757259651
CA9811935
98 C>W No ClinGen
ExAC
TOPMed
gnomAD
rs1442983501
CA408594150
99 Q>L No ClinGen
gnomAD
rs1221892145
CA408594050
102 M>T No ClinGen
TOPMed
rs747126870
CA9811934
104 K>R No ClinGen
ExAC
gnomAD
TCGA novel 105 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1487248440
CA408593971
106 G>D No ClinGen
TOPMed
CA313158650
rs879247517
110 L>F No ClinGen
gnomAD
rs758363667
CA9811931
111 C>Y No ClinGen
ExAC
gnomAD
rs1159124302
CA408593923
112 A>T No ClinGen
gnomAD
CA9811930
rs372883838
113 F>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
CA408593911
rs1189954636
113 F>S No ClinGen
TOPMed
rs768668974
CA9811892
114 G>V No ClinGen
ExAC
gnomAD
CA9811891
rs749540303
116 W>* No ClinGen
ExAC
TOPMed
gnomAD
CA9811890
rs140811755
117 M>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs35216976
VAR_052285
CA9811889
120 I>V No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 122 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA313156719
rs949611993
124 S>L No ClinGen
TOPMed
gnomAD
CA9811887
rs781757935
124 S>P No ClinGen
ExAC
gnomAD
rs759077361
CA9811884
CA9811883
126 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs145325433
CA9811885
126 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA408592481
rs1299460342
128 V>A No ClinGen
gnomAD
rs1568968543
CA408592488
128 V>I No ClinGen
Ensembl
CA9811858
rs371619800
132 D>E No ClinGen
ESP
ExAC
gnomAD
rs975987996
CA313155567
133 S>G No ClinGen
TOPMed
rs761598683
CA9811857
135 N>D No ClinGen
ExAC
gnomAD
rs1032895825
CA313155564
136 G>C No ClinGen
Ensembl
rs200977155
CA9811856
140 S>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 140 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9811855
rs139895122
142 R>G No ClinGen
ESP
ExAC
gnomAD
rs1600497476
CA408591501
142 R>K No ClinGen
Ensembl
CA9811837
rs764061229
143 L>F No ClinGen
ExAC
gnomAD
CA408591206
rs1224939044
145 Q>H No ClinGen
Ensembl
rs775361412
CA9811834
148 V>L No ClinGen
ExAC
gnomAD
CA9811835
rs775361412
148 V>M No ClinGen
ExAC
gnomAD
rs375945835
CA9811833
149 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA408591042
rs759594105
149 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs759594105
CA9811832
COSM1025835
149 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs748054217
CA313155244
152 S>G No ClinGen
Ensembl
CA408590820
rs1337525784
156 Q>R No ClinGen
gnomAD
CA9811828
rs773688214
157 D>A No ClinGen
ExAC
gnomAD
CA9811829
rs747371727
157 D>N No ClinGen
ExAC
gnomAD
CA9811827
rs772515844
159 R>* Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9811826
rs144823079
159 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1568967445
CA408590747
160 G>D No ClinGen
Ensembl
rs779491281
CA9811825
161 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs1166632859
CA408590721
161 S>T No ClinGen
gnomAD
rs886041023
CA313155200
162 M>T No ClinGen
Ensembl
rs1448847369
CA408590617
163 N>K No ClinGen
TOPMed
gnomAD
rs1600496905
CA408590644
163 N>T No ClinGen
Ensembl
rs755588754
CA9811824
166 I>T No ClinGen
ExAC
gnomAD
TCGA novel 167 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 168 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs149427408
CA9811823
169 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA313155178
CA313155179
rs370233901
171 E>D No ClinGen
ESP
rs1254983201
CA408590416
172 M>R No ClinGen
gnomAD
rs1254983201
CA408590405
172 M>T No ClinGen
gnomAD
rs756905924
CA9811821
173 E>K No ClinGen
ExAC
gnomAD
COSM1632236
CA9811820
rs17123951
VAR_026678
174 A>T liver [Cosmic] No ClinGen
cosmic curated
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1206723216
CA408590352
175 M>I No ClinGen
gnomAD
rs1342126488
CA408590361
175 M>L No ClinGen
gnomAD
CA408590318
rs1255192593
176 S>F No ClinGen
TOPMed
TCGA novel 176 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9811817
rs752635732
177 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA9811818
rs544826660
177 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1333676619
CA408590238
178 E>D No ClinGen
gnomAD
rs1409251373
CA408610685
179 Q>* No ClinGen
gnomAD
rs760765349
CA9811792
181 M>I No ClinGen
ExAC
TOPMed
rs1029426531
CA313198025
181 M>T No ClinGen
TOPMed
TCGA novel 181 M>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1032834864
CA313198005
183 Q>* No ClinGen
Ensembl
CA9811791
rs750687567
185 I>M No ClinGen
ExAC
gnomAD
CA9811790
rs767838764
186 M>R No ClinGen
ExAC
TOPMed
gnomAD
CA313197997
rs901768513
187 K>E No ClinGen
TOPMed
rs762333412
CA9811789
189 I>V No ClinGen
ExAC
gnomAD
CA408610506
rs1220592579
190 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA9811787
rs142997193
191 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9811786
rs763539442
192 D>H No ClinGen
ExAC
gnomAD
CA9811785
rs200166565
194 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs746468014
CA9811783
195 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA408610377
rs1345901869
197 P>L No ClinGen
gnomAD
CA408610366
rs1276448557
198 D>V No ClinGen
gnomAD
TCGA novel 198 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA408610359
rs1239810238
199 F>C No ClinGen
TOPMed
gnomAD
CA408610292
rs778788592
204 I>L No ClinGen
ExAC
gnomAD
CA9811778
rs752901171
204 I>T No ClinGen
ExAC
gnomAD
rs778788592
CA9811779
204 I>V No ClinGen
ExAC
gnomAD
rs1458305150
CA408610286
205 G>R No ClinGen
gnomAD
rs1380723526
CA408609580
206 A>D No ClinGen
gnomAD
TCGA novel 206 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9811752
rs781446292
206 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs781446292
CA408609586
206 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1380723526
CA408609577
206 A>V No ClinGen
gnomAD
rs1446913884
CA408609573
207 S>N No ClinGen
gnomAD
CA313196504
rs199809874
208 I>T No ClinGen
Ensembl
rs1416778216
CA408609565
208 I>V No ClinGen
gnomAD
CA408609533
rs1309066037
209 D>E No ClinGen
gnomAD
CA313196501
rs988827560
209 D>G No ClinGen
TOPMed
gnomAD
TCGA novel 209 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751811907
CA9811750
210 F>C No ClinGen
ExAC
gnomAD
CA408609490
rs1292410398
212 H>P No ClinGen
TOPMed
CA408609489
rs1292410398
212 H>R No ClinGen
TOPMed
CA408609491
rs1424405219
212 H>Y No ClinGen
gnomAD
COSM1411149
CA9811748
rs562378771
213 T>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs1245252487
CA408609435
215 V>F No ClinGen
TOPMed
rs1206975239
CA408609370
218 N>K No ClinGen
gnomAD
CA408609355
rs1183076306
219 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1273749248
CA408609338
220 E>K No ClinGen
gnomAD
CA9811743
rs767016137
222 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs761167616
CA9811742
223 H>R No ClinGen
ExAC
gnomAD
CA9811741
rs774107230
225 Y>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA313196428
rs918364461
225 Y>C No ClinGen
gnomAD
rs1369103173
CA408609270
226 W>G No ClinGen
gnomAD
CA408609201
rs1568963107
230 Q>H No ClinGen
Ensembl
rs137876184
COSM107409
CA313196412
232 W>* skin [Cosmic] No ClinGen
cosmic curated
Ensembl
CA9811739
rs749147888
233 N>K No ClinGen
ExAC
gnomAD
CA9811740
rs768189397
233 N>S No ClinGen
ExAC
gnomAD
CA408609116
rs1162817103
234 Y>S No ClinGen
gnomAD
CA9811737
rs769662035
235 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs745834124
CA9811735
236 Q>* No ClinGen
ExAC
gnomAD
rs1191686277
CA408609039
237 P>L No ClinGen
gnomAD
CA9811734
rs781209729
237 P>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1384502410
CA408608937
240 V>A No ClinGen
gnomAD
rs747050839
CA9811732
240 V>M No ClinGen
ExAC
gnomAD
CA9811731
rs778128145
241 I>V No ClinGen
ExAC
CA408608894
rs1287097662
242 L>F No ClinGen
TOPMed
CA9811730
rs758521577
243 E>K No ClinGen
ExAC
gnomAD
rs756556006
CA9811701
245 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs756556006
CA408608492
245 N>T No ClinGen
ExAC
TOPMed
gnomAD
rs768090149
CA313195290
246 V>M No ClinGen
gnomAD
rs1441042942
CA408608424
247 T>I No ClinGen
TOPMed
gnomAD
TCGA novel 248 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA408608410
rs1391446941
248 P>L No ClinGen
gnomAD
rs1464063953
CA408608367
251 C>G No ClinGen
gnomAD
rs762460579
CA408608362
251 C>S No ClinGen
ExAC
TOPMed
gnomAD
CA9811698
rs762460579
251 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA408608262
rs1600488124
255 E>G No ClinGen
Ensembl
CA408608238
rs1484438874
256 G>D No ClinGen
gnomAD
rs143463447
CA408608217
257 D>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs143463447
CA9811697
257 D>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA634828616
rs1330354733
257 D>L No ClinGen
gnomAD
rs148896965
CA9811696
258 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9811695
rs145672354
258 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs148896965
CA408608206
258 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs770953368
CA9811693
259 G>S No ClinGen
ExAC
gnomAD
CA408608172
rs1316606431
259 G>V No ClinGen
TOPMed
CA408608168
rs1325937033
260 Q>E No ClinGen
gnomAD
CA408608152
rs1335100647
260 Q>H No ClinGen
gnomAD
rs1600488054
CA408608128
262 T>P No ClinGen
Ensembl
rs200759832
CA9811692
263 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA9811691
rs773132705
263 I>S No ClinGen
ExAC
gnomAD
rs772056472
CA9811690
264 Q>* No ClinGen
ExAC
gnomAD
rs1430200515
CA408608102
264 Q>P No ClinGen
gnomAD
rs779170152
CA9811688
266 A>T No ClinGen
ExAC
gnomAD
CA9811687
rs768834384
268 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs749701900
CA9811686
269 V>I No ClinGen
ExAC
gnomAD
rs749701900
CA408608032
269 V>L No ClinGen
ExAC
gnomAD
rs1210556782
CA408607954
274 L>F No ClinGen
gnomAD
rs1210556782
CA408607955
274 L>V No ClinGen
gnomAD
CA313195240
rs774896205
276 L>P No ClinGen
Ensembl
CA313195236
rs370794074
278 H>Y No ClinGen
ESP
TOPMed
gnomAD
rs200006020
CA313195235
279 I>N No ClinGen
gnomAD
COSM1025832
CA313195230
rs1031964915
282 T>I Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA313195225
rs915768823
284 S>P No ClinGen
TOPMed
rs1403726296
CA408607842
286 S>L No ClinGen
TOPMed
CA9811679
rs754659598
287 G>D No ClinGen
ExAC
gnomAD
rs752251824
CA9811680
287 G>S No ClinGen
ExAC
gnomAD
rs754659598
CA9811678
287 G>V No ClinGen
ExAC
gnomAD
TCGA novel 288 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs376507648
CA408607794
292 A>S No ClinGen
ESP
ExAC
gnomAD
CA9811676
rs376507648
292 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs1164455224
CA408607783
293 P>S No ClinGen
TOPMed
gnomAD
TCGA novel 294 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760457923
CA9811674
295 D>E No ClinGen
ExAC
gnomAD
rs905085218
CA313195190
295 D>G No ClinGen
Ensembl
rs373087559
CA9811672
297 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA408607725
rs1220909721
298 I>S No ClinGen
gnomAD
CA9811652
rs142172157
300 G>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1419991350
CA408607702
300 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1222940526
CA408607687
302 E>K No ClinGen
gnomAD
CA408607683
rs1600487395
302 E>V No ClinGen
Ensembl
rs1276541767
CA408607677
303 G>D No ClinGen
gnomAD
CA408607680
rs1345463505
303 G>S No ClinGen
gnomAD
CA408607659
rs1426772729
306 K>M No ClinGen
TOPMed
CA313194978
rs904593964
307 E>D No ClinGen
TOPMed
CA313194976
rs948682915
308 E>D No ClinGen
TOPMed
CA313194977
rs1043046005
308 E>K No ClinGen
TOPMed
CA408607638
rs1600487351
309 V>E No ClinGen
Ensembl
rs1369585664
CA408607639
309 V>L No ClinGen
TOPMed
gnomAD
rs980503542
CA313194973
310 F>L No ClinGen
Ensembl
CA408607616
rs147655590
313 A>S No ClinGen
1000Genomes
TOPMed
gnomAD
CA313194965
rs147655590
313 A>T No ClinGen
1000Genomes
TOPMed
gnomAD
CA9811647
rs147686372
315 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs762963648
CA9811646
317 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs1220021371
CA408607556
321 I>T No ClinGen
TOPMed
rs1319352993
CA408607559
321 I>V No ClinGen
TOPMed
rs775634331
CA9811645
323 Q>H No ClinGen
ExAC
gnomAD
CA408607531
rs1266524680
324 M>I No ClinGen
gnomAD
rs767044389
CA313194885
325 F>I No ClinGen
Ensembl
CA313194879
rs1013710619
326 P>L No ClinGen
TOPMed
gnomAD
rs1453167677
CA408607487
328 Q>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1424078744
CA408607001
330 Q>* No ClinGen
TOPMed
CA9811621
rs752113082
330 Q>H No ClinGen
ExAC
gnomAD
CA9811620
rs759829563
331 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1380834890
CA408606983
332 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA408606975
rs1282084636
332 A>V No ClinGen
gnomAD
rs761104852
CA9811617
333 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs771430099
CA9811618
333 R>W No ClinGen
ExAC
gnomAD
rs773921069
CA9811616
334 A>T No ClinGen
ExAC
gnomAD
CA9811615
rs772671476
336 S>G No ClinGen
ExAC
gnomAD
CA9811614
rs145971802
336 S>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA408606939
rs145971802
336 S>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9811613
rs568690831
337 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA408606909
rs745537183
339 K>M No ClinGen
ExAC
TOPMed
gnomAD
rs745537183
CA9811611
339 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA408606881
rs1186076740
342 I>T No ClinGen
gnomAD
TCGA novel 344 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9811610
rs140018693
345 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs751353089
CA9811608
346 W>* No ClinGen
ExAC
gnomAD
rs1159550503
CA408606821
346 W>* No ClinGen
gnomAD
CA408606807
rs1479639792
347 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs777727864
CA9811607
347 G>R No ClinGen
ExAC
gnomAD
CA408606785
rs758335571
348 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA408606763
rs1323006046
349 P>S No ClinGen
TOPMed
gnomAD
CA408606750
rs1482284161
350 G>R No ClinGen
TOPMed
rs765394185
CA9811604
352 T>I No ClinGen
ExAC
gnomAD
rs1600486149
CA408606726
352 T>P No ClinGen
Ensembl
rs1334591822
CA408606717
353 C>Y No ClinGen
gnomAD
rs1289420074
CA408606713
354 L>M No ClinGen
gnomAD
CA408606708
rs1428855238
354 L>P No ClinGen
gnomAD
CA408606700
rs1600486122
355 Y>S No ClinGen
Ensembl
COSM1411147
CA9811601
rs766701001
356 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
TCGA novel 357 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9811599
rs188077154
357 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9811597
rs538674224
358 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9811598
rs538674224
358 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1412396592
CA408606647
358 R>Q No ClinGen
gnomAD
CA313194019
rs911851211
359 V>E Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs200348907
CA9811596
359 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs745355479
CA9811594
361 G>V No ClinGen
ExAC
gnomAD
CA9811593
rs780891676
363 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs1250651659
CA408606554
364 A>G No ClinGen
gnomAD
rs151243035
CA9811591
364 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs151243035
CA9811592
364 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1250651659
CA408606557
364 A>V No ClinGen
gnomAD
CA408606541
rs1329379104
COSM478014
365 P>L kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1329379104
CA408606539
365 P>R No ClinGen
TOPMed
gnomAD
CA408606542
rs1356939030
365 P>S No ClinGen
TOPMed
TCGA novel 366 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA313193960
rs928843192
369 Q>P No ClinGen
TOPMed
gnomAD
CA408606443
rs1220366874
370 P>L No ClinGen
TOPMed
gnomAD
rs148795260
CA9811587
371 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9811588
rs748123088
371 H>R No ClinGen
ExAC
gnomAD
rs755149635
CA408606380
372 Q>* No ClinGen
ExAC
gnomAD
rs755149635
CA9811586
372 Q>E No ClinGen
ExAC
gnomAD
rs778283453
CA313193939
373 N>H No ClinGen
TOPMed
gnomAD
rs376724304
CA9811585
374 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9811584
rs766754143
376 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs750632484
CA9811583
379 D>E No ClinGen
ExAC
TOPMed
gnomAD

1 associated diseases with Q8TC36

[MIM: 617187]: Spermatogenic failure 16 (SPGF16)

An infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. Most spermatozoa are made up of headless tails, while a small proportion has an abnormal head-tail junction. A few spermatozoa are made up of tailless heads. {ECO:0000269|PubMed:27640305, ECO:0000269|PubMed:28541472, ECO:0000269|PubMed:28945193, ECO:0000269|PubMed:29298896}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • An infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. Most spermatozoa are made up of headless tails, while a small proportion has an abnormal head-tail junction. A few spermatozoa are made up of tailless heads. {ECO:0000269|PubMed:27640305, ECO:0000269|PubMed:28541472, ECO:0000269|PubMed:28945193, ECO:0000269|PubMed:29298896}. Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for Q8TC36

Type Name Position InterPro Accession
domain SUN domain 205 - 364 IPR012919

Functions

Description
EC Number
Subcellular Localization
  • Nucleus inner membrane ; Single-pass membrane protein
  • Golgi apparatus
  • During spermiogenesis, traffics through the Golgi apparatus before reaching the round spermatid inner membrane of the nuclear envelope and later migrates to the coupling apparatus of the sperm during sperm head elongation and differentiation
  • In mature spermatozoa, is localized to the coupling apparatus of the sperm head and tail in the implementation fossa
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

6 GO annotations of cellular component

Name Definition
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.
integral component of nuclear inner membrane The component of the nuclear inner membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
meiotic nuclear membrane microtubule tethering complex A nuclear membrane protein complex which connects the nuclear outer and inner membranes together, and links links the nuclear lumen to cytoplasmic microtubules during meiosis.
nuclear envelope The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space).
nuclear inner membrane The inner, i.e. lumen-facing, lipid bilayer of the nuclear envelope.
sperm connecting piece The segment of the sperm flagellum that attaches to the implantation fossa of the nucleus in the sperm head; from the remnant of the centriole at this point, the axoneme extends throughout the length of the flagellum.

1 GO annotations of molecular function

Name Definition
protein-membrane adaptor activity The binding activity of a molecule that brings together a protein or a protein complex with a membrane, or bringing together two membranes, either via membrane lipid binding or by interacting with a membrane protein, to establish or maintain the localization of the protein, protein complex or organelle.

3 GO annotations of biological process

Name Definition
nuclear envelope organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the nuclear envelope.
spermatid development The process whose specific outcome is the progression of a spermatid over time, from its formation to the mature structure.
spermatogenesis The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.

6 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P47069 MPS3 Spindle pole body assembly component MPS3 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
Q9UH99 SUN2 SUN domain-containing protein 2 Homo sapiens (Human) SS
O94901 SUN1 SUN domain-containing protein 1 Homo sapiens (Human) SS
Q8BJS4 Sun2 SUN domain-containing protein 2 Mus musculus (Mouse) EV
Q9D666 Sun1 SUN domain-containing protein 1 Mus musculus (Mouse) EV
Q9DA32 Sun5 SUN domain-containing protein 5 Mus musculus (Mouse) PR
10 20 30 40 50 60
MPRSSRSPGD PGALLEDVAH NPRPRRIAQR GRNTSRMAED TSPNMNDNIL LPVRNNDQAL
70 80 90 100 110 120
GLTQCMLGCV SWFTCFACSL RTQAQQVLFN TCRCKLLCQK LMEKTGILLL CAFGFWMFSI
130 140 150 160 170 180
HLPSKMKVWQ DDSINGPLQS LRLYQEKVRH HSGEIQDLRG SMNQLIAKLQ EMEAMSDEQK
190 200 210 220 230 240
MAQKIMKMIH GDYIEKPDFA LKSIGASIDF EHTSVTYNHE KAHSYWNWIQ LWNYAQPPDV
250 260 270 280 290 300
ILEPNVTPGN CWAFEGDRGQ VTIQLAQKVY LSNLTLQHIP KTISLSGSLD TAPKDFVIYG
310 320 330 340 350 360
MEGSPKEEVF LGAFQFQPEN IIQMFPLQNQ PARAFSAVKV KISSNWGNPG FTCLYRVRVH
370
GSVAPPREQP HQNPYPKRD