P05111
PR
Gene name |
INHA |
Protein name |
Inhibin alpha chain |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3623 |
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 P05111
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P05111-F1 | Predicted | AlphaFoldDB |
315 variants for P05111
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs12720062 RCV001258300 CA2132051 VAR_015110 RCV000456099 |
257 | A>T | Premature ovarian failure may play a role in premature ovarian failure [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1382404988 CA350767766 |
2 | V>L | No |
ClinGen TOPMed |
|
|
CA2131877 rs539617640 |
3 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1469029583 CA350767798 |
4 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs370250655 CA66043890 |
4 | H>Y | No |
ClinGen Ensembl |
|
|
rs772729799 CA2131879 |
6 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs553256103 CA2131880 |
7 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA350767865 rs1052741617 |
10 | L>M | No |
ClinGen TOPMed |
|
|
rs1559164673 CA350767879 |
11 | L>P | No |
ClinGen Ensembl |
|
|
CA350767890 rs1356054423 |
12 | T>N | No |
ClinGen TOPMed |
|
|
CA350767904 rs775253512 |
13 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs775253512 CA2131888 |
13 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1395680866 CA350767912 |
14 | Q>P | No |
ClinGen gnomAD |
|
|
CA66043941 rs892484650 |
15 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2131890 rs374972575 |
16 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2131891 rs374972575 |
16 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 17 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs75409408 CA66043961 |
21 | G>E | No |
ClinGen Ensembl |
|
|
CA2131895 rs145240592 |
22 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748553257 CA2131898 |
23 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA66043984 rs1021975107 |
25 | A>D | No |
ClinGen TOPMed |
|
|
rs746580263 CA2131901 |
26 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2131900 rs199544141 |
26 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs770549682 CA2131902 |
27 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA350768038 rs1574594315 |
27 | E>G | No |
ClinGen Ensembl |
|
|
rs977254603 CA66043989 |
28 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1422826323 CA350768055 |
29 | V>L | No |
ClinGen TOPMed |
|
|
CA350768067 rs1156448678 |
30 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1346555995 CA350768082 |
31 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA350768102 rs1301689911 |
33 | V>M | No |
ClinGen gnomAD |
|
|
rs560985914 CA350768134 |
35 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2131905 rs560985914 |
35 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2131906 rs139051234 |
39 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762728790 CA2131907 |
40 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs12720060 CA2131909 |
43 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs975469502 CA66044019 |
43 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs12720060 CA350768232 |
43 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350768247 rs1342413931 |
44 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs753969684 COSM1482796 CA2131912 |
45 | A>T | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs960266462 CA66044025 |
45 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1410636991 CA350768284 |
47 | T>I | No |
ClinGen gnomAD |
|
|
CA350768282 rs1410636991 |
47 | T>S | No |
ClinGen gnomAD |
|
|
rs1174996687 CA350768325 |
50 | G>V | No |
ClinGen gnomAD |
|
|
CA350768331 rs1436089518 CA350768330 |
51 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1349744536 CA350768340 |
52 | D>N | No |
ClinGen gnomAD |
|
|
CA66044045 rs754976939 |
53 | P>A | No |
ClinGen gnomAD |
|
|
rs754976939 CA350768354 |
53 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA350768379 rs1373875455 |
55 | V>F | No |
ClinGen gnomAD |
|
|
rs1213613104 CA350768399 |
56 | R>S | No |
ClinGen gnomAD |
|
|
CA2131915 rs753111199 |
57 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA2131916 rs753111199 |
57 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1224525818 CA350768405 |
57 | R>W | No |
ClinGen gnomAD |
|
|
CA66044052 rs1024644386 |
59 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1574594603 CA350768425 |
59 | P>S | No |
ClinGen Ensembl |
|
|
CA66044077 rs980893896 |
60 | R>* | No |
ClinGen gnomAD |
|
|
CA350768431 rs980893896 |
60 | R>G | No |
ClinGen gnomAD |
|
| VAR_072639 | 60 | R>L | found in a patient with early-onset epithelial ovarian tumor; unknown pathological significance; alters the ratio of secreted activins and ihibins [UniProt] | No | UniProt |
|
CA2131917 rs370513243 |
60 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA350768446 rs1234955599 |
61 | R>T | No |
ClinGen gnomAD |
|
|
CA350768459 rs1470746383 |
62 | H>R | No |
ClinGen gnomAD |
|
|
CA66044081 rs958086470 |
62 | H>Y | No |
ClinGen Ensembl |
|
|
CA2131918 rs751037955 |
63 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2131920 rs780774645 |
65 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA350768505 rs1369410899 |
66 | G>A | No |
ClinGen gnomAD |
|
| rs1190141661 | 66 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1369410899 CA350768507 |
66 | G>D | No |
ClinGen gnomAD |
|
|
CA350768504 rs1369410899 |
66 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 67 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs913847649 CA66044090 |
69 | H>P | No |
ClinGen TOPMed |
|
|
CA350768554 rs563337516 |
70 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1301014530 CA350768560 |
70 | R>K | No |
ClinGen gnomAD |
|
|
rs1301014530 CA350768562 |
70 | R>T | No |
ClinGen gnomAD |
|
|
rs563337516 CA350768556 |
70 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1236786282 CA350768576 |
71 | G>D | No |
ClinGen gnomAD |
|
|
CA350768569 rs1368984705 |
71 | G>S | No |
ClinGen gnomAD |
|
|
rs1341625873 CA350768586 |
72 | S>C | No |
ClinGen gnomAD |
|
|
CA350768598 rs1213309493 |
73 | E>G | No |
ClinGen gnomAD |
|
|
CA350768607 rs1275770825 |
74 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA350768621 rs528720477 |
75 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 75 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2131926 rs528720477 |
75 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350768619 rs528720477 |
75 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350768662 rs1251538253 |
78 | E>K | No |
ClinGen gnomAD |
|
|
rs1193951398 CA350768744 |
84 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs552352170 CA2131927 |
84 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1375827065 CA350768748 |
85 | L>F | No |
ClinGen TOPMed |
|
|
rs1389002726 CA350768762 |
86 | F>S | No |
ClinGen gnomAD |
|
|
CA66044123 rs932743645 |
87 | P>T | No |
ClinGen Ensembl |
|
|
CA350769142 rs1437806131 |
90 | D>E | No |
ClinGen TOPMed |
|
|
rs1233110808 CA350769141 |
90 | D>V | No |
ClinGen gnomAD |
|
|
CA350769158 rs1390001737 |
91 | A>V | No |
ClinGen TOPMed |
|
|
rs1158189271 CA350769230 |
95 | D>G | No |
ClinGen gnomAD |
|
|
CA2131941 rs779809172 |
98 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1325882002 CA350769284 |
98 | A>V | No |
ClinGen TOPMed |
|
|
CA2131942 rs749064607 |
101 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292034541 CA350769359 |
104 | Q>R | No |
ClinGen gnomAD |
|
|
CA2131944 rs778875070 |
105 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs544896462 CA66045138 |
105 | E>G | No |
ClinGen Ensembl |
|
|
rs748042602 CA2131945 |
108 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs141659806 CA2131947 |
109 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1428152381 CA350769451 |
111 | F>Y | No |
ClinGen TOPMed |
|
|
rs1284339707 CA350769461 |
112 | R>G | No |
ClinGen gnomAD |
|
|
rs1574596735 CA350769491 |
113 | Y>* | No |
ClinGen Ensembl |
|
|
CA66045144 rs541007081 |
113 | Y>C | No |
ClinGen gnomAD |
|
|
rs1475508512 CA350769504 |
114 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2131949 rs144014148 |
114 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764382434 CA2131952 |
116 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763182716 CA2131951 |
116 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751923530 CA2131953 |
118 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs577636996 CA2131956 |
122 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3380055 CA2131957 rs755693845 |
122 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs142156311 CA2131958 |
124 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs540215120 CA2131959 |
124 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs142156311 CA350769629 |
124 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350769644 rs1559166321 |
125 | Q>H | No |
ClinGen Ensembl |
|
|
rs1038237683 CA66045229 |
125 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs754694190 CA2131960 |
126 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA2131961 rs778785142 |
127 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA2131962 rs748024269 |
128 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs371079583 CA66045258 |
129 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs758255591 CA2131963 |
129 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1485920241 CA350769675 |
130 | Q>* | No |
ClinGen gnomAD |
|
|
rs777806401 CA2131965 |
135 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1184216895 CA350769716 |
136 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs934945858 CA66045307 |
138 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA66045300 rs925032942 |
138 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA350769737 rs1171775682 |
139 | R>M | No |
ClinGen gnomAD |
|
|
CA350769759 rs1352970901 |
142 | T>I | No |
ClinGen TOPMed |
|
|
CA2131968 rs775559422 |
143 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1559166359 CA350769768 |
144 | A>V | No |
ClinGen Ensembl |
|
|
rs374088703 CA2131973 |
148 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350769807 rs374088703 |
148 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350769853 rs761112403 |
153 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761112403 CA2131975 |
153 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754673997 CA2131978 |
156 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2131979 rs754673997 |
156 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2131980 rs752509300 |
156 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2131981 rs758170478 |
159 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746904695 CA2131984 |
160 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2131983 rs746904695 |
160 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1343252619 CA350769928 |
161 | G>A | No |
ClinGen TOPMed |
|
|
CA350769915 rs1414511445 |
161 | G>R | No |
ClinGen gnomAD |
|
|
CA2131986 rs149916845 |
163 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2131987 rs149916845 |
163 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA350769948 rs1314458732 |
164 | A>T | No |
ClinGen TOPMed |
|
|
rs1168788109 CA350769952 |
164 | A>V | No |
ClinGen gnomAD |
|
|
CA66045364 rs369189218 |
165 | V>M | No |
ClinGen gnomAD |
|
|
CA350769966 rs1327565035 |
166 | P>S | No |
ClinGen gnomAD |
|
|
rs767061597 CA2131993 |
167 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA2131992 rs761179516 |
167 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA66045380 rs993452642 |
167 | M>V | No |
ClinGen TOPMed |
|
|
rs1035684792 CA66045395 |
168 | S>T | No |
ClinGen TOPMed |
|
|
rs774256139 CA2131996 COSM1669791 |
171 | H>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs759167075 CA2131995 |
171 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202014679 CA66045400 |
172 | A>T | No |
ClinGen 1000Genomes |
|
|
CA66045406 rs992068119 |
173 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA66045420 rs192760521 |
174 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2131997 rs192760521 |
174 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1023987842 CA66045409 |
174 | P>S | No |
ClinGen TOPMed |
|
|
rs762524988 CA2131998 |
175 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763881470 CA2132000 |
175 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1416750463 CA350770061 |
176 | W>* | No |
ClinGen TOPMed |
|
|
CA350770074 rs1259750107 |
177 | A>D | No |
ClinGen gnomAD |
|
|
CA2132002 rs372427524 |
178 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs566461209 CA2132003 |
180 | H>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755013497 CA350770107 |
180 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1394708808 CA350770117 |
182 | A>T | No |
ClinGen gnomAD |
|
|
CA350770154 rs974188140 |
186 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs974188140 CA66045454 |
186 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA350770167 rs1159239660 |
187 | S>F | No |
ClinGen gnomAD |
|
|
CA66045458 rs935096572 |
187 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA2132006 rs748345996 |
190 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 191 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2132007 rs772191459 |
191 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA350770191 rs1234861712 |
191 | H>Y | No |
ClinGen gnomAD |
|
|
CA350770214 rs1259029217 |
193 | V>A | No |
ClinGen gnomAD |
|
|
CA2132009 rs201577506 |
193 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs144941390 CA2132010 |
195 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1257387062 CA350770254 |
199 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA66045478 rs367749891 |
199 | R>H | No |
ClinGen Ensembl |
|
|
rs1257387062 CA350770257 |
199 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA350770281 rs1414977683 |
201 | P>H | No |
ClinGen gnomAD |
|
| TCGA novel | 201 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs537621466 CA2132011 |
201 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760141862 CA2132012 |
202 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350770312 rs1419819236 |
204 | T>S | No |
ClinGen gnomAD |
|
|
CA2132014 rs774866908 |
205 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1373497202 CA350770332 |
206 | S>L | No |
ClinGen gnomAD |
|
|
CA2132015 rs762659098 |
207 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA350770334 rs1416550734 |
207 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2132017 rs111982983 |
208 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761632829 CA2132019 |
208 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761632829 CA2132018 |
208 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2132016 rs111982983 |
208 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750315309 CA2132020 |
209 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2132022 rs148567617 |
212 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA66045550 rs1037869771 |
213 | P>L | No |
ClinGen TOPMed |
|
|
rs758635243 CA2132024 |
213 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs777906518 CA2132025 |
217 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs142337821 CA2132027 |
220 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368930117 CA2132026 |
220 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1172410247 CA350770433 |
222 | R>K | No |
ClinGen gnomAD |
|
|
rs1291623603 CA350770443 |
223 | P>Q | No |
ClinGen TOPMed |
|
|
rs993568545 CA66045574 |
224 | P>S | No |
ClinGen TOPMed |
|
|
CA2132029 rs139608664 |
225 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs12720061 CA2132031 VAR_034016 |
227 | G>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1321198258 CA350770470 |
228 | E>A | No |
ClinGen TOPMed |
|
| TCGA novel | 228 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1390732250 CA350770467 |
228 | E>K | No |
ClinGen TOPMed |
|
|
rs768319710 CA2132033 |
230 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA66045607 rs761596421 |
230 | A>S | No |
ClinGen Ensembl |
|
|
CA2132034 rs773831859 |
231 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761479412 CA350770488 |
231 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA2132035 rs761479412 |
231 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2132036 rs200421240 |
232 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350770507 rs1345886226 |
235 | P>T | No |
ClinGen gnomAD |
|
|
CA2132037 rs200600232 |
236 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1279998532 CA350770535 |
238 | S>C | No |
ClinGen gnomAD |
|
|
rs1437789616 CA350770551 |
240 | P>T | No |
ClinGen gnomAD |
|
|
CA2132038 rs376758084 |
243 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350770582 rs1574597077 |
243 | P>S | No |
ClinGen Ensembl |
|
|
rs148455844 CA2132039 |
244 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 245 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs147900292 CA2132040 |
245 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758448367 COSM1210673 CA2132041 |
247 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs758448367 CA350770610 |
247 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2132043 rs751673614 |
247 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs751673614 CA350770612 |
247 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758448367 CA2132042 |
247 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225877445 CA350770658 |
252 | P>S | No |
ClinGen TOPMed |
|
|
CA2132047 rs750272026 |
253 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438651936 CA350770673 |
254 | E>K | No |
ClinGen gnomAD |
|
|
rs373504529 CA2132049 |
256 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1368076552 CA350770700 |
256 | P>S | No |
ClinGen TOPMed |
|
|
CA2132053 rs771782116 |
259 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 260 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1165830251 CA350770734 |
260 | A>T | No |
ClinGen TOPMed |
|
|
CA350770740 rs1428171068 |
260 | A>V | No |
ClinGen TOPMed |
|
|
CA350770748 rs1469555045 |
261 | N>S | No |
ClinGen gnomAD |
|
|
CA350770758 rs1198885682 |
262 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA66045701 rs928419389 |
264 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA350770786 rs928419389 |
264 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs766309905 CA350770809 |
267 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350770858 rs1407307187 |
271 | F>L | No |
ClinGen gnomAD |
|
|
CA350770857 rs1392493445 |
271 | F>Y | No |
ClinGen gnomAD |
|
|
CA2132060 rs751753814 |
278 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs188445071 CA2132059 |
278 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM3838687 rs1341715949 CA350770960 |
281 | V>M | Variant assessed as Somatic; 4.62e-05 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1574597224 CA350770972 |
282 | Y>S | No |
ClinGen Ensembl |
|
|
CA2132063 rs750783756 |
284 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs750783756 CA350770992 |
284 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2132064 rs756390279 |
287 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA350771033 rs1282920768 |
288 | F>V | No |
ClinGen gnomAD |
|
|
rs1463990727 CA350771049 |
289 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA350771044 rs1233392744 |
289 | H>Y | No |
ClinGen TOPMed |
|
|
rs199895306 CA2132065 |
290 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs200991916 CA66045764 |
295 | C>W | No |
ClinGen Ensembl |
|
|
CA350771119 rs1221730194 |
296 | G>E | No |
ClinGen Ensembl |
|
|
rs749704759 CA2132066 |
298 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA350771142 rs1436531766 |
299 | I>L | No |
ClinGen TOPMed |
|
|
CA2132068 rs778285152 |
299 | I>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 305 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2132070 rs771692276 |
306 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs376826452 CA2132071 |
306 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1398984162 CA350771204 |
307 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1398984162 CA350771202 |
307 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1300142832 CA350771212 |
308 | P>R | No |
ClinGen gnomAD |
|
|
CA350771208 rs1574597283 |
308 | P>S | No |
ClinGen Ensembl |
|
|
rs746696557 CA2132072 |
309 | G>E | No |
ClinGen ExAC |
|
|
rs1361672393 CA350771214 |
309 | G>R | No |
ClinGen gnomAD |
|
|
CA2132073 rs770572812 |
310 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2132075 rs759385742 |
311 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA350771233 rs903315450 |
312 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA66045792 rs903315450 |
312 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2132077 rs774546897 |
314 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA350771246 rs1434550525 |
315 | A>P | No |
ClinGen TOPMed |
|
|
rs762020845 CA2132078 |
316 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1485265335 CA350771277 |
319 | S>F | No |
ClinGen gnomAD |
|
|
rs1174872329 CA350771286 |
320 | L>F | No |
ClinGen TOPMed |
|
|
CA66045807 rs767732203 |
320 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs370075997 CA2132080 |
324 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760968173 CA2132081 |
326 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1180214212 CA350771370 |
329 | A>G | No |
ClinGen TOPMed |
|
|
rs754298724 CA2132083 |
330 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1381075326 CA350771384 |
331 | L>F | No |
ClinGen gnomAD |
|
|
CA2132084 rs566378784 |
333 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1722083 CA350771414 rs1311643535 |
334 | T>I | NS [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA2132085 rs140659175 |
335 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350771436 rs1280597748 |
336 | R>K | No |
ClinGen TOPMed |
|
|
rs199646192 CA66045879 |
337 | P>A | No |
ClinGen 1000Genomes |
|
|
CA66045877 rs199646192 |
337 | P>T | No |
ClinGen 1000Genomes |
|
|
CA2132087 rs752173717 |
339 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs757864159 CA2132088 |
341 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777288649 CA2132089 |
341 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs746574756 CA2132090 |
342 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA66045891 rs1025309043 |
344 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs780833794 CA2132092 COSM140445 |
346 | G>R | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs745723467 CA2132093 |
347 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs769583909 CA2132094 |
349 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 350 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350771627 rs1238847359 |
354 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 355 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775524281 CA2132095 |
356 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2132096 rs763003465 |
357 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA2132097 rs772217357 |
358 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA350771685 rs1415561434 |
359 | L>F | No |
ClinGen TOPMed |
|
|
rs1415561434 CA350771683 |
359 | L>V | No |
ClinGen TOPMed |
|
|
rs773432878 CA2132098 |
360 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA350771722 rs1473648557 |
362 | H>D | No |
ClinGen TOPMed |
|
|
rs760805489 CA2132099 |
362 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350771757 rs1215039853 |
364 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA350771765 rs1369828487 |
365 | C>S | No |
ClinGen gnomAD |
|
|
CA2132100 rs766685955 |
366 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA350771776 rs1302782569 |
366 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2132102 rs759985863 |
367 | I>Y | No |
ClinGen ExAC gnomAD |
No associated diseases with P05111
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| inhibin A complex | Heterodimeric hormone composed of an inhibin alpha subunit complexed with an inhibin beta-A subunit. |
| inhibin B complex | Heterodimeric hormone composed of an inhibin alpha subunit complexed with an inhibin beta-B subunit. |
| inhibin-betaglycan-ActRII complex | A protein complex that consists of inhibin, type III transforming growth factor beta receptor (also known as betaglycan), and the type II activin receptor ActRII. The complex is thought to negatively regulate the activity of activin B. |
| neuronal cell body | The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. |
| photoreceptor inner segment | The inner segment of a vertebrate photoreceptor containing mitochondria, ribosomes and membranes where opsin molecules are assembled and passed to be part of the outer segment discs. |
| photoreceptor outer segment | The outer segment of a vertebrate photoreceptor that contains a stack of membrane discs embedded with photoreceptor proteins. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| cytokine activity | The activity of a soluble extracellular gene product that interacts with a receptor to effect a change in the activity of the receptor to control the survival, growth, differentiation and effector function of tissues and cells. |
| growth factor activity | The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation. |
| hormone activity | The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects; all bind receptors and trigger some biological process. |
| inhibin binding | Binding to an inhibin monomer, any of the polypeptides that combine to form activin and inhibin dimers. |
| protein-containing complex binding | Binding to a macromolecular complex. |
| signaling receptor binding | Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
20 GO annotations of biological process
| Name | Definition |
|---|---|
| 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 surface receptor signaling pathway | The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. |
| cell-cell signaling | Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions. |
| erythrocyte differentiation | The process in which a myeloid precursor cell acquires specializes features of an erythrocyte. |
| hemoglobin biosynthetic process | The chemical reactions and pathways resulting in the formation of hemoglobin, an oxygen carrying, conjugated protein containing four heme groups and globin. |
| male gonad development | The process whose specific outcome is the progression of the male gonad over time, from its formation to the mature structure. |
| negative regulation of B cell differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of B cell differentiation. |
| negative regulation of cell cycle | Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle. |
| negative regulation of follicle-stimulating hormone secretion | Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of follicle-stimulating hormone. |
| negative regulation of interferon-gamma production | Any process that stops, prevents, or reduces the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon. |
| negative regulation of macrophage differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of macrophage differentiation. |
| negative regulation of phosphorylation | Any process that stops, prevents or decreases the rate of addition of phosphate groups to a molecule. |
| ovarian follicle development | The process whose specific outcome is the progression of the ovarian follicle over time, from its formation to the mature structure. |
| positive regulation of follicle-stimulating hormone secretion | Any process that activates or increases the frequency, rate or extent of the regulated release of follicle-stimulating hormone. |
| 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. |
| regulation of cell cycle | Any process that modulates the rate or extent of progression through the cell cycle. |
| regulation of cell population proliferation | Any process that modulates the frequency, rate or extent of cell proliferation. |
| 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. |
| skeletal system development | The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton). |
| SMAD protein signal transduction | The cascade of processes by which a signal interacts with a receptor, causing a change in the activity of a SMAD protein, and ultimately effecting a change in the functioning of the cell. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P21214 | TGFB2 | Transforming growth factor beta-2 proprotein | Bos taurus (Bovine) | PR |
| P30371 | TGFB2 | Transforming growth factor beta-2 proprotein | Gallus gallus (Chicken) | PR |
| Q99988 | GDF15 | Growth/differentiation factor 15 | Homo sapiens (Human) | PR |
| P61812 | TGFB2 | Transforming growth factor beta-2 proprotein | Homo sapiens (Human) | PR |
| P27090 | Tgfb2 | Transforming growth factor beta-2 proprotein | Mus musculus (Mouse) | PR |
| Q07257 | Tgfb2 | Transforming growth factor beta-2 proprotein | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVLHLLLFLL | LTPQGGHSCQ | GLELARELVL | AKVRALFLDA | LGPPAVTREG | GDPGVRRLPR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RHALGGFTHR | GSEPEEEEDV | SQAILFPATD | ASCEDKSAAR | GLAQEAEEGL | FRYMFRPSQH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TRSRQVTSAQ | LWFHTGLDRQ | GTAASNSSEP | LLGLLALSPG | GPVAVPMSLG | HAPPHWAVLH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LATSALSLLT | HPVLVLLLRC | PLCTCSARPE | ATPFLVAHTR | TRPPSGGERA | RRSTPLMSWP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| WSPSALRLLQ | RPPEEPAAHA | NCHRVALNIS | FQELGWERWI | VYPPSFIFHY | CHGGCGLHIP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PNLSLPVPGA | PPTPAQPYSL | LPGAQPCCAA | LPGTMRPLHV | RTTSDGGYSF | KYETVPNLLT |
| QHCACI |