Q8TC36
Gene name |
SUN5 (SPAG4L, TSARG4) |
Protein name |
SUN domain-containing protein 5 |
Names |
Sad1 and UNC84 domain-containing protein 5, Sperm-associated antigen 4-like protein, Testis and spermatogenesis-related gene 4 protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:140732 |
EC number |
|
Protein Class |
|

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
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 |