O76061
Gene name |
STC2 |
Protein name |
Stanniocalcin-2 |
Names |
STC-2, Stanniocalcin-related protein, STC-related protein, STCRP |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8614 |
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
5 structures for O76061
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7Y5Q | EM | 380 A | C | 1-302 | PDB |
| 8A7D | EM | 306 A | P | 44-210 | PDB |
| 8A7E | EM | 502 A | A/P | 44-211 | PDB |
| 8HGH | EM | 416 A | C/G | 1-302 | PDB |
| AF-O76061-F1 | Predicted | AlphaFoldDB |
214 variants for O76061
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs778989259 CA3564119 |
2 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs778989259 CA362217355 |
2 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs200255935 CA3564118 |
4 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1421083078 CA362217325 |
7 | G>S | No |
ClinGen gnomAD |
|
|
CA3564117 rs753263968 |
7 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362217307 rs1431828027 |
9 | F>C | No |
ClinGen gnomAD |
|
| TCGA novel | 13 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3564116 rs777520249 |
13 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA362217259 rs1192348754 |
17 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs201354731 CA3564115 |
17 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1206826522 CA362217227 |
21 | P>L | No |
ClinGen TOPMed |
|
|
CA362217226 rs1488716158 |
22 | A>T | No |
ClinGen gnomAD |
|
|
CA362217223 rs1260231898 |
22 | A>V | No |
ClinGen TOPMed |
|
|
CA3564113 rs759825929 |
23 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA3564112 rs759825929 |
23 | R>W | No |
ClinGen ExAC gnomAD |
|
|
COSM1227840 rs780730599 CA132537096 |
24 | G>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1219802418 CA362217206 |
26 | D>N | No |
ClinGen gnomAD |
|
|
CA362217198 rs1375362476 |
27 | A>P | No |
ClinGen gnomAD |
|
|
rs1339777818 CA362217189 |
28 | T>I | No |
ClinGen gnomAD |
|
|
rs1275687966 CA362217182 |
29 | N>S | No |
ClinGen gnomAD |
|
|
CA362217173 rs1401344162 |
30 | P>L | No |
ClinGen gnomAD |
|
|
rs138219439 CA132537095 |
31 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1301949879 CA362217162 |
32 | E>D | No |
ClinGen gnomAD |
|
|
rs766852840 CA3564110 |
32 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1464851915 CA362217133 |
36 | D>E | No |
ClinGen gnomAD |
|
|
CA362217125 rs1361317042 |
38 | S>R | No |
ClinGen gnomAD |
|
|
CA3564108 rs147001479 |
38 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1196261289 CA362217108 |
40 | Q>R | No |
ClinGen gnomAD |
|
|
rs769870162 CA3564107 |
44 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3564106 rs148833559 |
44 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA132537092 rs929674037 |
51 | A>T | No |
ClinGen Ensembl |
|
|
CA3564088 rs199859079 |
51 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs62636573 CA132536901 |
52 | E>G | No |
ClinGen gnomAD |
|
|
rs1237426438 CA362217001 |
54 | Q>H | No |
ClinGen TOPMed |
|
|
CA362216994 rs1264278133 |
55 | H>L | No |
ClinGen gnomAD |
|
|
CA3564084 rs777050582 |
57 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA362216967 rs1313048060 |
59 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3564080 rs770708060 |
60 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs770708060 CA3564081 |
60 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1448094852 CA362216947 |
62 | D>E | No |
ClinGen gnomAD |
|
|
CA3564078 rs773130884 |
62 | D>N | No |
ClinGen ExAC |
|
|
rs370833041 CA3564076 |
67 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362216904 rs1459533013 |
69 | E>K | No |
ClinGen gnomAD |
|
|
rs376762243 CA3564073 |
72 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA362216882 rs376762243 |
72 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1037532480 CA132536898 |
73 | N>D | No |
ClinGen Ensembl |
|
|
CA3564072 rs780297853 |
73 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3564070 rs750959444 |
79 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM1065906 rs758725089 CA3564071 |
79 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs757329205 CA3564068 |
82 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs988026115 CA132536895 |
83 | G>R | No |
ClinGen TOPMed |
|
|
rs146441603 CA3564065 |
86 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764227728 CA3564066 |
86 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs766088063 CA362216779 |
87 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs766088063 CA3564063 |
87 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA3564064 rs775794210 |
87 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA3564062 rs762800064 |
89 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA3564061 rs773075267 |
90 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3564060 rs748039896 |
91 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1391631792 CA362216750 |
92 | A>T | No |
ClinGen gnomAD |
|
|
CA362216722 rs1313072372 |
96 | D>Y | No |
ClinGen TOPMed |
|
|
rs1467461601 CA362219913 |
101 | S>L | No |
ClinGen gnomAD |
|
|
CA362219901 rs1581139786 |
103 | I>V | No |
ClinGen Ensembl |
|
|
rs1429947690 CA362219886 |
105 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs769283117 CA3564044 |
106 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs761755527 CA3564041 |
110 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA3564039 rs768222549 |
112 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA132536573 rs982687618 |
113 | A>T | No |
ClinGen TOPMed |
|
|
CA3564037 rs775055321 |
114 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs193154184 CA132536572 |
115 | R>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs779357671 CA3564034 |
116 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs925905197 CA132536571 COSM1436067 |
119 | G>S | large_intestine Variant assessed as Somatic; 4.629e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA362219783 rs1415984886 |
121 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1415984886 CA362219782 |
121 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs749813011 CA3564032 |
122 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs146639722 CA3564031 |
123 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369005616 CA3564029 |
126 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1472235601 CA362219729 |
129 | R>K | No |
ClinGen gnomAD |
|
|
CA362219710 TCGA novel rs1190020700 |
131 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
rs765021377 CA132536570 |
134 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3564026 rs375274614 |
134 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1197365745 CA362219689 |
135 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1197365745 CA362219688 |
135 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1320642544 CA362219682 |
136 | Q>E | No |
ClinGen gnomAD |
|
|
rs753833263 CA3564023 |
137 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs753833263 CA3564024 |
137 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273720400 CA362219673 |
137 | R>W | No |
ClinGen gnomAD |
|
|
rs1458183063 CA362219654 |
140 | Y>H | No |
ClinGen TOPMed |
|
|
rs1286225970 CA362219646 |
141 | L>V | No |
ClinGen gnomAD |
|
|
rs199713538 CA3564022 |
142 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs372362093 CA3564021 COSM1310974 |
144 | D>N | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3564019 rs372250146 |
147 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362219602 rs1328886992 |
147 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1411138299 CA362219596 |
148 | A>V | No |
ClinGen gnomAD |
|
|
CA362219576 rs1164702088 |
151 | E>G | No |
ClinGen gnomAD |
|
|
CA3564016 rs144381958 COSM3723728 |
154 | R>Q | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA3564017 rs148514784 |
154 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3564014 rs778470092 |
155 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3564013 rs770457435 |
157 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs576293542 CA132536566 |
158 | E>D | No |
ClinGen 1000Genomes gnomAD |
|
|
CA132536565 rs1005423667 |
159 | M>I | No |
ClinGen TOPMed |
|
|
CA3564011 rs781348919 |
160 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs556400982 CA3564009 |
161 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3564010 rs754950313 COSM3661715 |
161 | H>Y | liver [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
CA3564008 rs200661657 |
162 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs753601207 | 168 | H>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA132536561 rs753601207 CA3564006 |
168 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3564005 rs143646937 |
169 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362219445 rs1342125700 |
170 | P>T | No |
ClinGen TOPMed |
|
|
rs539321647 CA132536031 CA362219431 |
172 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs539321647 CA132536030 |
172 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs752743454 CA3563963 |
175 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA362219413 rs1382451005 |
175 | V>M | No |
ClinGen gnomAD |
|
|
CA362219403 rs1220969720 |
176 | N>T | No |
ClinGen TOPMed |
|
|
rs1284525350 CA362219395 |
177 | L>F | No |
ClinGen TOPMed |
|
|
CA3563961 rs754563940 |
185 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA3563960 rs751080486 |
188 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1581138088 CA362219313 |
190 | T>P | No |
ClinGen Ensembl |
|
|
rs1275905684 CA362219299 |
192 | S>G | No |
ClinGen gnomAD |
|
|
rs570098824 CA3563958 |
193 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs570098824 CA3563957 |
193 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765703541 CA3563956 |
195 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA362219280 rs765703541 |
195 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA362219230 rs1446339196 |
201 | W>* | No |
ClinGen gnomAD |
|
|
rs1581138072 CA362219233 |
201 | W>G | No |
ClinGen Ensembl |
|
|
CA132536026 rs886378430 |
204 | L>M | No |
ClinGen Ensembl |
|
|
rs1177865235 CA362219177 |
209 | S>N | No |
ClinGen gnomAD |
|
|
rs1177865235 CA362219176 |
209 | S>T | No |
ClinGen gnomAD |
|
|
rs1377942293 CA362219161 |
211 | C>Y | No |
ClinGen TOPMed |
|
|
rs1581138054 CA362219155 |
212 | T>P | No |
ClinGen Ensembl |
|
|
rs1554096960 CA362219145 COSM1292093 |
213 | S>L | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA362219143 rs1421490944 |
214 | A>P | No |
ClinGen gnomAD |
|
|
CA362219127 rs1429290821 |
216 | Q>R | No |
ClinGen gnomAD |
|
|
CA3563952 rs370205303 |
217 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1482180710 CA362219112 |
218 | P>L | No |
ClinGen gnomAD |
|
|
CA3563951 rs150805735 |
218 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362219101 rs894940812 |
220 | T>K | No |
ClinGen gnomAD |
|
|
rs894940812 CA132536024 |
220 | T>M | No |
ClinGen gnomAD |
|
|
CA132536023 rs775172802 COSM4155621 |
221 | A>V | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA3563948 rs779102299 |
222 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 223 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362219078 rs1311634104 |
224 | E>D | No |
ClinGen gnomAD |
|
|
CA3563945 rs781227018 |
224 | E>K | No |
ClinGen ExAC TOPMed |
|
| rs760095741 | 224 | E>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 224 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3563943 COSM247627 rs754896450 |
225 | R>C | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
COSM287168 rs768636098 CA3563942 |
225 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3563937 rs367702518 |
228 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362219054 rs1299923955 |
228 | Q>L | No |
ClinGen gnomAD |
|
|
CA362219039 rs530241742 |
230 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA132536021 rs928692071 |
231 | R>G | No |
ClinGen gnomAD |
|
|
rs754187067 CA3563935 |
232 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3563932 rs775909005 |
234 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3563931 rs772205469 |
236 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA362219002 rs1480708858 COSM1065903 |
237 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs774678758 CA3563929 |
238 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3563926 rs375944211 CA3563927 |
240 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1316109716 CA362218970 |
241 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
COSM1696765 CA362218977 rs1463268602 |
241 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs561100501 CA3563925 |
242 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA362218954 rs1375288846 |
244 | H>R | No |
ClinGen gnomAD |
|
|
rs1420735451 CA362218956 |
244 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs200270109 CA362218948 |
245 | H>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780130118 CA3563923 |
245 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200270109 CA3563924 |
245 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs913493869 CA132536020 |
245 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA362218933 rs1244693225 |
248 | E>Q | No |
ClinGen TOPMed |
|
|
CA362218920 rs1285216743 |
249 | P>L | No |
ClinGen TOPMed |
|
|
CA3563922 rs758032028 |
250 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA362218919 rs1358880025 |
250 | S>R | No |
ClinGen TOPMed |
|
|
CA362218913 rs1366449937 |
250 | S>R | No |
ClinGen gnomAD |
|
|
CA132536018 rs771592824 |
251 | S>N | No |
ClinGen Ensembl |
|
|
CA3563921 rs749923080 |
253 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 256 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs889171811 CA132536016 |
256 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA3563919 rs148204564 |
257 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3563920 rs148204564 |
257 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371405184 CA3563918 |
262 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362218835 rs1207577111 |
263 | G>A | No |
ClinGen gnomAD |
|
|
rs1265988959 CA362218838 |
263 | G>R | No |
ClinGen gnomAD |
|
|
rs1490727027 CA362218826 |
264 | S>R | No |
ClinGen gnomAD |
|
|
rs764369553 CA3563917 |
266 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA3563916 rs761021786 |
267 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs545526580 CA132536015 |
267 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3563914 rs377333538 |
269 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA362218791 rs775023312 |
269 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1436063 rs373237346 CA3563912 |
270 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1406875071 CA362218783 |
271 | H>Y | No |
ClinGen gnomAD |
|
|
CA362218777 rs1168822405 |
272 | A>T | No |
ClinGen TOPMed |
|
|
rs1297886403 CA362218770 |
273 | R>* | No |
ClinGen gnomAD |
|
|
rs371249080 CA3563909 |
273 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768635319 CA3563908 |
274 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1454205875 CA362218761 |
275 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs775610079 CA3563906 |
276 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs137947483 CA3563907 |
276 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778297660 CA3563904 |
278 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778297660 CA3563903 |
278 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756719350 CA3563902 |
279 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA132536012 rs267600554 |
280 | G>E | No |
ClinGen Ensembl |
|
|
CA362218728 rs1444926070 |
281 | A>D | No |
ClinGen gnomAD |
|
|
CA362218726 rs1444926070 |
281 | A>V | No |
ClinGen gnomAD |
|
|
rs886074143 CA132536011 |
282 | Q>R | No |
ClinGen Ensembl |
|
|
rs1206110908 CA362218715 |
283 | G>E | No |
ClinGen gnomAD |
|
|
rs756515690 CA3563899 |
284 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3563896 CA3563897 rs368820616 |
286 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1277653641 COSM1266916 CA362218681 |
289 | E>K | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA3563894 COSM1672132 rs766439549 |
290 | W>* | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA362218665 rs1256709561 |
291 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs191497817 CA3563893 |
292 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1319999350 CA362218657 |
292 | D>N | No |
ClinGen gnomAD |
|
|
CA3563891 COSM1642680 rs148037199 |
293 | E>K | stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs762087967 CA3563890 |
294 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs775448844 CA3563889 COSM208100 |
301 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA362218589 rs1262194263 |
302 | R>G | No |
ClinGen TOPMed |
No associated diseases with O76061
1 regional properties for O76061
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | RecF/RecN/SMC, N-terminal | 4 - 502 | IPR003395 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum lumen | The volume enclosed by the membranes of the endoplasmic reticulum. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| 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. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| heme binding | Binding to a heme, a compound composed of iron complexed in a porphyrin (tetrapyrrole) ring. |
| 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. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular calcium ion homeostasis | Any process involved in the maintenance of an internal steady state of calcium ions at the level of a cell. |
| cellular response to hypoxia | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. |
| decidualization | The cellular and vascular changes occurring in the endometrium of the pregnant uterus just after the onset of blastocyst implantation. This process involves the proliferation and differentiation of the fibroblast-like endometrial stromal cells into large, polyploid decidual cells that eventually form the maternal component of the placenta. |
| embryo implantation | Attachment of the blastocyst to the uterine lining. |
| endoplasmic reticulum unfolded protein response | The series of molecular signals generated as a consequence of the presence of unfolded proteins in the endoplasmic reticulum (ER) or other ER-related stress; results in changes in the regulation of transcription and translation. |
| negative regulation of gene expression | Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| negative regulation of multicellular organism growth | Any process that stops, prevents, or reduces the frequency, rate or extent of growth of an organism to reach its usual body size. |
| regulation of hormone biosynthetic process | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of hormones. |
| regulation of store-operated calcium entry | Any process that modulates the frequency, rate or extent of store-operated calcium entry. |
| response to oxidative stress | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals. |
| response to peptide hormone | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. |
| response to vitamin D | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin D stimulus. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MCAERLGQFM | TLALVLATFD | PARGTDATNP | PEGPQDRSSQ | QKGRLSLQNT | AEIQHCLVNA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GDVGCGVFEC | FENNSCEIRG | LHGICMTFLH | NAGKFDAQGK | SFIKDALKCK | AHALRHRFGC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ISRKCPAIRE | MVSQLQRECY | LKHDLCAAAQ | ENTRVIVEMI | HFKDLLLHEP | YVDLVNLLLT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| CGEEVKEAIT | HSVQVQCEQN | WGSLCSILSF | CTSAIQKPPT | APPERQPQVD | RTKLSRAHHG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EAGHHLPEPS | SRETGRGAKG | ERGSKSHPNA | HARGRVGGLG | AQGPSGSSEW | EDEQSEYSDI |
| RR |