Q13705
PR
Gene name |
ACVR2B |
Protein name |
Activin receptor type-2B |
Names |
Activin receptor type IIB, ACTR-IIB |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:93 |
EC number |
2.7.11.30: Protein-serine/threonine kinases |
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
338-363 (Activation loop from InterPro)
Target domain |
190-480 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
8 structures for Q13705
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2H62 | X-ray | 185 A | D | 19-116 | PDB |
| 2QLU | X-ray | 200 A | A | 190-487 | PDB |
| 4FAO | X-ray | 336 A | E/F/K/L/Q/R/W/X/e/f/k/l | 19-134 | PDB |
| 5NGV | X-ray | 200 A | A | 24-117 | PDB |
| 5NHR | X-ray | 335 A | C/D | 24-117 | PDB |
| 7MRZ | X-ray | 300 A | C | 19-134 | PDB |
| 7OLY | X-ray | 327 A | C | 19-134 | PDB |
| AF-Q13705-F1 | Predicted | AlphaFoldDB |
352 variants for Q13705
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000703017 rs1559642966 |
1 | M>V | Heterotaxy, visceral, 4, autosomal [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000243624 VAR_013281 rs121434437 CA281591 RCV000007261 |
40 | R>H | Heterotaxy, visceral, 4, autosomal (htx4) Heterotaxy, visceral, 4, autosomal HTX4 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2318713 rs752059653 RCV000801072 |
48 | R>L | Heterotaxy, visceral, 4, autosomal [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10616225 RCV000262997 rs886058385 |
95 | E>Q | Heterotaxy, visceral, 4, autosomal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2318808 COSM1318683 COSM1318682 RCV001214399 rs199622012 |
137 | T>M | Heterotaxy, visceral, 4, autosomal Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001149563 rs555828910 CA2318815 |
160 | Y>F | Heterotaxy, visceral, 4, autosomal [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
COSM1422737 rs572594763 COSM1422738 RCV001149564 CA2318818 |
161 | R>Q | Heterotaxy, visceral, 4, autosomal large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000793449 CA2318817 rs375094633 |
161 | R>W | Heterotaxy, visceral, 4, autosomal [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2318841 rs35882617 VAR_041396 RCV000754876 |
176 | P>R | Heterotaxy, visceral, 4, autosomal [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA352130174 RCV001054179 rs1279855513 |
185 | V>L | Heterotaxy, visceral, 4, autosomal [ClinVar] | Yes |
ClinVar dbSNP ClinGen gnomAD |
|
rs769170500 RCV001294981 CA2318941 |
309 | R>C | Heterotaxy, visceral, 4, autosomal [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs138692827 CA2318942 RCV000702416 RCV003165880 |
309 | R>H | Heterotaxy, visceral, 4, autosomal Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA352134056 rs1559655653 RCV000754875 |
383 | R>C | Heterotaxy, visceral, 4, autosomal (htx4) Heterotaxy, visceral, 4, autosomal [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001324509 rs1710030273 |
383 | R>H | Heterotaxy, visceral, 4, autosomal [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001312769 CA352134102 rs1346683151 |
386 | M>L | Heterotaxy, visceral, 4, autosomal [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1575589844 RCV000815679 CA352134654 |
399 | R>G | Heterotaxy, visceral, 4, autosomal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002546965 RCV001342651 CA2319079 rs747041699 |
482 | R>Q | Heterotaxy, visceral, 4, autosomal Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000863682 CA2319078 rs144370188 |
482 | R>W | Heterotaxy, visceral, 4, autosomal [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000704687 rs150752796 CA2319091 |
493 | L>F | Heterotaxy, visceral, 4, autosomal [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA281592 VAR_013282 RCV000007262 rs121434438 |
494 | V>I | Heterotaxy, visceral, 4, autosomal (htx4) Heterotaxy, visceral, 4, autosomal Variant assessed as Somatic; 0.0 impact. HTX4 [Ensembl, ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA352135414 RCV000698647 rs1559656538 |
511 | S>N | Heterotaxy, visceral, 4, autosomal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA352120558 rs1224256995 |
2 | T>K | No |
ClinGen TOPMed |
|
|
rs1470129412 CA352120621 |
8 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1395063932 CA352120643 |
10 | L>P | No |
ClinGen gnomAD |
|
|
rs1575574743 CA352120640 |
10 | L>V | No |
ClinGen Ensembl |
|
|
rs1178854667 CA352120646 |
11 | L>I | No |
ClinGen gnomAD |
|
|
CA352120681 rs1438714906 |
14 | S>A | No |
ClinGen TOPMed |
|
|
CA72909098 rs1018672480 |
16 | C>G | No |
ClinGen TOPMed |
|
|
CA352120711 rs1319510153 |
17 | A>D | No |
ClinGen gnomAD |
|
|
rs1400737165 CA352120706 |
17 | A>T | No |
ClinGen gnomAD |
|
|
CA2318699 rs527993143 |
18 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA352125830 rs1409388869 |
21 | R>C | No |
ClinGen gnomAD |
|
|
rs776754289 CA2318700 |
21 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs776754289 CA2318701 |
21 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 25 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1165115100 CA352125935 |
26 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA352125933 rs1165115100 |
26 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs950149718 CA72924009 |
27 | R>Q | No |
ClinGen gnomAD |
|
|
CA352125971 rs1575587095 |
29 | C>G | No |
ClinGen Ensembl |
|
|
COSM1044205 CA72924016 rs371756878 |
34 | A>T | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed |
| TCGA novel | 38 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352126180 rs1272716240 |
40 | R>C | No |
ClinGen gnomAD |
|
|
CA352126205 rs1275663545 |
41 | T>I | No |
ClinGen gnomAD |
|
|
CA352126198 rs1575587113 |
41 | T>P | No |
ClinGen Ensembl |
|
|
rs765853980 CA2318710 COSM272307 |
45 | G>D | large_intestine Variant assessed as Somatic; 0.0007392 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA72924045 rs957188913 |
48 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2318712 rs752059653 |
48 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1181753 CA2318715 rs371445433 |
50 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2318716 rs781234846 |
51 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA2318719 rs774335401 |
52 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA72924059 rs762512304 |
53 | Q>R | No |
ClinGen Ensembl |
|
|
CA2318722 rs568598054 |
55 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA72924067 rs374138891 |
55 | K>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs374138891 CA352126501 |
55 | K>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA72924064 rs374138891 |
55 | K>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2318724 rs377679317 |
56 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
| TCGA novel | 56 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1283033270 CA352126528 |
57 | L>M | No |
ClinGen gnomAD |
|
|
rs1575587184 CA352126535 |
58 | H>D | No |
ClinGen Ensembl |
|
|
CA352126539 rs1575587189 |
58 | H>P | No |
ClinGen Ensembl |
|
|
CA352126674 rs1417923833 |
64 | R>C | No |
ClinGen gnomAD |
|
|
CA352126681 rs2615643 |
64 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs2615643 CA2318727 |
64 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs2615643 CA72924085 |
64 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs758919898 CA2318730 |
65 | N>S | No |
ClinGen ExAC |
|
|
CA2318731 rs766697783 |
66 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA352126732 rs1174345130 |
67 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 68 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1166663952 CA352126780 |
69 | T>S | No |
ClinGen gnomAD |
|
|
rs145456109 CA352126831 |
70 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs475911 CA72924125 |
70 | I>S | No |
ClinGen Ensembl |
|
|
rs1435470974 CA352126839 |
71 | E>A | No |
ClinGen gnomAD |
|
|
CA2318735 rs748362587 |
82 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs369141295 CA2318736 |
83 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1030605505 CA72924149 |
86 | D>N | No |
ClinGen TOPMed |
|
|
rs1002137037 CA72924374 |
89 | E>Q | No |
ClinGen gnomAD |
|
|
CA352127359 rs1191224674 |
95 | E>G | No |
ClinGen TOPMed |
|
|
CA352127385 rs1034501828 |
97 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1034501828 CA72924381 |
97 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2318766 rs772695464 |
101 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs71323666 CA72924386 |
106 | G>S | No |
ClinGen Ensembl |
|
|
COSM1044211 rs770339569 CA2318768 COSM1044212 |
111 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA352127737 rs770339569 |
111 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352127762 rs1310906789 |
112 | R>C | No |
ClinGen TOPMed |
|
|
rs759935727 CA2318770 |
112 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2318771 rs767907680 |
114 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs753089562 CA2318772 |
114 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 115 | H>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352127836 rs1575587502 |
115 | H>Q | No |
ClinGen Ensembl |
|
|
CA72924418 rs926985338 |
121 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2318773 rs760979000 |
122 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352128007 rs1575587521 |
123 | E>G | No |
ClinGen Ensembl |
|
|
CA2318799 rs767580601 |
124 | V>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 124 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752672932 CA2318800 |
125 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777404502 CA2318802 |
127 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2318803 rs749007843 |
128 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA352128289 rs1209906991 |
128 | P>S | No |
ClinGen gnomAD |
|
|
CA352128304 rs1388827960 |
129 | P>S | No |
ClinGen gnomAD |
|
|
CA352128297 rs1388827960 |
129 | P>T | No |
ClinGen gnomAD |
|
|
rs539715843 CA2318804 |
130 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs539715843 CA352128315 |
130 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 130 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1318701679 CA352128351 |
132 | A>T | No |
ClinGen TOPMed |
|
|
CA2318807 rs771504080 |
133 | P>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 133 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1559653327 CA352128381 |
133 | P>S | No |
ClinGen Ensembl |
|
|
CA72924531 rs1019587219 |
134 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 134 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352128401 rs1019587219 |
134 | T>S | No |
ClinGen TOPMed |
|
|
CA352128420 rs1363840488 |
135 | L>P | No |
ClinGen gnomAD |
|
|
rs964317508 CA72924534 |
136 | L>H | No |
ClinGen Ensembl |
|
|
CA352128441 rs1559653358 |
137 | T>P | No |
ClinGen Ensembl |
|
|
CA352128457 rs1454395499 |
138 | V>M | No |
ClinGen TOPMed |
|
|
CA352128501 rs936545586 |
140 | A>D | No |
ClinGen gnomAD |
|
|
rs201652745 CA2318810 |
140 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA72924556 rs936545586 |
140 | A>V | No |
ClinGen gnomAD |
|
|
CA2318811 rs776832749 |
141 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs757221967 CA72924564 |
146 | I>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 148 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA72924573 rs987923374 |
148 | G>D | No |
ClinGen gnomAD |
|
|
CA352129478 rs987923374 |
148 | G>V | No |
ClinGen gnomAD |
|
|
CA2318814 rs773514392 |
153 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352129681 rs1435606399 |
156 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA352129722 rs1319639502 |
158 | W>R | No |
ClinGen gnomAD |
|
|
rs551871504 CA72924592 |
159 | M>I | No |
ClinGen Ensembl |
|
|
rs1410985210 CA352129743 |
159 | M>R | No |
ClinGen Ensembl |
|
|
rs375094633 CA2318816 |
161 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs572594763 CA2318819 |
161 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs541599352 CA2318821 |
163 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs370063198 CA2318822 |
163 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2318823 rs370063198 |
163 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs578215223 CA2318824 |
165 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs578215223 CA352129850 |
165 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779507051 CA2318825 |
166 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779507051 CA2318826 |
166 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs937594760 CA72924620 |
167 | Y>C | No |
ClinGen gnomAD |
|
| rs1458653556 | 167 | Y>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2318828 rs781693526 |
168 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA2318829 rs748463174 |
169 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA352129953 rs1247808310 |
173 | H>R | No |
ClinGen TOPMed |
|
|
CA352130046 rs1575587844 |
175 | D>A | No |
ClinGen Ensembl |
|
|
rs377027851 CA2318840 |
175 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA352130100 rs1181053666 |
178 | P>L | No |
ClinGen gnomAD |
|
|
CA2318842 rs758021785 |
179 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs779631588 CA2318843 |
180 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA352130136 rs1575587866 |
181 | P>L | No |
ClinGen Ensembl |
|
|
CA352130132 rs1235135249 |
181 | P>S | No |
ClinGen TOPMed |
|
|
rs754440123 CA2318845 |
183 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA352130157 rs754440123 |
183 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1200367497 CA352130164 |
184 | L>V | No |
ClinGen gnomAD |
|
|
rs1212588727 CA352130244 |
190 | L>R | No |
ClinGen gnomAD |
|
|
CA72924698 rs964039483 |
195 | I>M | No |
ClinGen Ensembl |
|
|
CA2318850 rs749624641 |
196 | K>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 197 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352130373 rs1240636110 |
198 | R>Q | No |
ClinGen TOPMed |
|
|
CA352130364 rs1249093127 |
198 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs374191982 CA2318851 |
200 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2318852 rs774650861 |
200 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 205 | W>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1575587926 CA352130523 |
206 | K>E | No |
ClinGen Ensembl |
|
|
CA352130576 rs1443785575 |
208 | Q>R | No |
ClinGen gnomAD |
|
|
rs975814456 CA72924735 |
209 | L>F | No |
ClinGen Ensembl |
|
|
CA2318857 rs765064181 |
210 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA352130705 rs1471515440 |
214 | V>A | No |
ClinGen Ensembl |
|
|
CA72924750 rs1027633385 |
215 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 217 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766021761 CA2318860 |
217 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA352130739 rs1429244094 |
218 | I>F | No |
ClinGen gnomAD |
|
|
CA352130745 rs1429244094 |
218 | I>V | No |
ClinGen gnomAD |
|
|
CA72924764 rs867368282 |
220 | P>S | No |
ClinGen Ensembl |
|
|
rs377111784 CA2318865 |
221 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2318864 rs377111784 |
221 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757764446 CA2318887 |
224 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1186630570 CA352130999 |
225 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2318888 rs779306516 |
226 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779306516 CA352131013 |
226 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2318890 rs758668102 |
229 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs34815229 CA2318891 |
229 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA72925019 rs534516 |
230 | E>G | No |
ClinGen Ensembl |
|
|
CA72925030 rs908442251 |
231 | R>Q | No |
ClinGen TOPMed |
|
|
CA72925027 COSM1566789 COSM1566788 rs970606066 |
231 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1470955821 CA352131098 |
235 | S>G | No |
ClinGen TOPMed |
|
|
CA72925037 rs140053752 |
240 | K>R | No |
ClinGen ESP |
|
|
rs1455936453 CA352131176 |
241 | H>R | No |
ClinGen gnomAD |
|
|
CA352131185 rs1392051747 |
242 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA352131240 rs1386902616 |
246 | Q>* | No |
ClinGen gnomAD |
|
|
CA2318895 rs749214138 |
246 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA352131255 rs1343019179 |
247 | F>L | No |
ClinGen gnomAD |
|
|
CA352131258 rs1229867551 |
247 | F>Y | No |
ClinGen gnomAD |
|
|
CA352131274 rs770766278 |
248 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA2318896 rs770766278 |
248 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2318898 rs759214358 |
249 | A>S | No |
ClinGen ExAC |
|
|
CA352131308 rs1374454353 |
250 | A>T | No |
ClinGen TOPMed |
|
|
CA352131314 rs1213356829 |
250 | A>V | No |
ClinGen gnomAD |
|
|
CA2318901 rs760321356 |
251 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1209096025 CA352131348 |
253 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1559654198 CA352131361 |
254 | G>A | No |
ClinGen Ensembl |
|
|
rs754436899 CA2318903 |
258 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs754436899 CA352131414 |
258 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs564309911 CA2318905 |
259 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs540729310 CA2318904 |
259 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA352131534 rs1471845000 |
265 | T>M | No |
ClinGen gnomAD |
|
| TCGA novel | 268 | H>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1195333528 CA352131567 |
268 | H>R | No |
ClinGen TOPMed |
|
|
CA2318906 rs750829648 |
269 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA72925193 rs558305186 |
274 | T>M | No |
ClinGen gnomAD |
|
|
rs200501230 CA352131696 |
276 | Y>* | No |
ClinGen gnomAD |
|
|
rs1304167281 CA352131721 |
279 | G>R | No |
ClinGen gnomAD |
|
|
rs1379656046 CA352131749 |
280 | N>S | No |
ClinGen gnomAD |
|
|
rs1404640147 CA352131760 |
281 | I>V | No |
ClinGen Ensembl |
|
|
rs903349508 CA352131775 |
282 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA72925202 rs903349508 |
282 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs751815691 CA2318928 |
284 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA2318929 rs755219586 |
285 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA352131851 rs1212540485 |
286 | E>Q | No |
ClinGen gnomAD |
|
|
rs756092202 CA2318932 |
293 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1250515265 COSM1422742 COSM1422741 CA352132035 |
296 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA2318934 rs377187676 |
296 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352132091 rs1419102466 |
299 | S>* | No |
ClinGen TOPMed |
|
|
CA352132100 rs1186831524 |
300 | Y>H | No |
ClinGen TOPMed |
|
|
CA352132175 rs1559654509 |
305 | V>A | No |
ClinGen Ensembl |
|
|
rs761420288 CA2318940 |
307 | W>G | No |
ClinGen ExAC |
|
|
rs1177847751 CA352132219 |
308 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs138692827 CA352132302 |
309 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1435744812 CA352132318 COSM1753186 COSM1753185 |
311 | E>K | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs766812621 CA2318944 |
312 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA2318945 rs751956277 |
315 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA352132404 rs1311822011 |
318 | A>V | No |
ClinGen gnomAD |
|
|
rs1201929960 CA352132419 |
320 | R>K | No |
ClinGen gnomAD |
|
|
rs1453833560 CA352133023 |
326 | N>S | No |
ClinGen gnomAD |
|
|
rs774784440 CA2318962 |
327 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs759954682 CA2318963 |
331 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1575589386 CA352133092 |
332 | D>A | No |
ClinGen Ensembl |
|
|
rs372546332 CA2318965 |
332 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA72926004 rs79103026 |
334 | T>P | No |
ClinGen Ensembl |
|
|
COSM1044214 COSM1044213 rs1321677268 CA352133129 |
336 | V>M | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 337 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 343 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA72926010 rs199538354 |
345 | R>P | No |
ClinGen 1000Genomes |
|
|
CA72926016 rs181838400 |
347 | E>* | No |
ClinGen Ensembl |
|
|
rs139748909 CA2318968 |
347 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA72926022 rs200894388 |
350 | K>E | No |
ClinGen Ensembl |
|
|
rs757294880 CA2318969 |
350 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs766430238 CA2318970 |
352 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352133335 rs766430238 |
352 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1201228009 CA352133375 |
354 | D>E | No |
ClinGen TOPMed |
|
|
rs754884404 CA2318972 |
354 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs781100925 CA2318973 |
355 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA72926030 rs376329335 |
357 | G>R | No |
ClinGen ESP TOPMed |
|
|
CA72926251 rs199839373 |
360 | G>S | No |
ClinGen gnomAD |
|
|
rs1575589739 CA352133607 |
361 | T>R | No |
ClinGen Ensembl |
|
|
CA72926259 rs1022712387 |
363 | R>Q | No |
ClinGen gnomAD |
|
|
CA2318990 rs752442546 |
363 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1575589759 CA352133677 |
365 | M>K | No |
ClinGen Ensembl |
|
|
CA352133773 rs1575589769 |
369 | V>G | No |
ClinGen Ensembl |
|
|
rs961153672 COSM350864 CA72926277 |
369 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1190372339 CA352133782 |
370 | L>P | No |
ClinGen gnomAD |
|
|
CA2318993 rs753528065 |
372 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA2318995 rs778374625 |
374 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA2318994 rs756801382 |
374 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2318997 rs772598999 |
379 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA352134080 rs1249314121 |
384 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2318999 rs747347266 |
384 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA352134139 rs1200614677 |
389 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1200614677 CA352134141 |
389 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs2126533 CA72926290 |
394 | W>R | No |
ClinGen Ensembl |
|
|
rs201145228 CA2319000 |
397 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1251501480 CA352134648 |
398 | S>T | No |
ClinGen TOPMed |
|
|
CA2319002 rs762092222 |
401 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs1428047170 CA352134675 |
402 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1428047170 CA352134674 |
402 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2319004 rs773445192 |
404 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA2319006 COSM1753188 COSM1753187 rs767371487 |
405 | G>R | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA352134715 rs1265575250 |
406 | P>L | No |
ClinGen gnomAD |
|
|
CA2319032 rs750062087 CA2319031 |
407 | V>L | Heterotaxy, visceral, 4, autosomal (htx4) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750062087 CA2319030 |
407 | V>M | Heterotaxy, visceral, 4, autosomal (htx4) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1464564392 CA352134725 |
408 | D>G | No |
ClinGen TOPMed |
|
|
rs147650411 CA72926379 |
409 | E>G | No |
ClinGen ESP gnomAD |
|
|
CA2319034 rs755527007 |
410 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA2319035 rs781509169 |
411 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1267110187 CA352134748 |
411 | M>T | No |
ClinGen gnomAD |
|
|
CA352134795 rs988287106 |
418 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA72926388 rs988287106 |
418 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs778210512 CA2319038 |
421 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2319040 COSM1642244 COSM1642243 rs770969114 |
423 | S>L | Variant assessed as Somatic; 0.0 impact. skin stomach [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1424812164 CA352134864 |
428 | Q>P | No |
ClinGen gnomAD |
|
|
CA352134873 rs1188005490 |
429 | E>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 430 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352134881 rs1575590004 |
430 | V>G | No |
ClinGen Ensembl |
|
|
CA352134876 rs1411302234 |
430 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA352134878 rs1411302234 |
430 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs904463166 CA72926412 |
434 | K>R | No |
ClinGen gnomAD |
|
|
rs1423510939 CA352134923 |
436 | M>I | No |
ClinGen gnomAD |
|
|
CA352134940 rs1383429957 |
439 | T>A | No |
ClinGen gnomAD |
|
|
CA352134942 rs1245070605 |
439 | T>N | No |
ClinGen gnomAD |
|
| TCGA novel | 440 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA72926416 rs999144243 |
440 | I>V | No |
ClinGen gnomAD |
|
|
rs1559655921 CA352134992 |
446 | K>E | No |
ClinGen Ensembl |
|
|
rs1205534666 CA352135001 |
447 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 448 | P>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2319046 rs761653104 |
448 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs373852166 CA72926419 |
448 | P>S | No |
ClinGen ESP gnomAD |
|
|
rs759155968 CA2319068 |
449 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs753310490 CA2319070 |
451 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352135069 rs1288370136 |
456 | T>I | No |
ClinGen gnomAD |
|
|
rs500611 VAR_050594 CA72926715 |
459 | E>D | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA352135124 rs1221184474 |
463 | H>R | No |
ClinGen gnomAD |
|
|
CA2319072 rs764656938 |
465 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA72926730 rs1044257460 |
466 | E>G | No |
ClinGen Ensembl |
|
|
rs779253835 CA2319075 |
467 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA352135156 rs1448081745 |
468 | R>P | No |
ClinGen gnomAD |
|
|
rs1241037610 CA352135171 |
471 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1484586588 CA352135175 |
471 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA72926749 rs919145368 |
472 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA352135177 rs1217837328 |
472 | G>S | No |
ClinGen gnomAD |
|
|
rs930007452 CA72926754 |
474 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1173984429 CA352135195 |
475 | E>K | No |
ClinGen gnomAD |
|
|
rs1409805657 CA352135203 |
476 | E>K | No |
ClinGen gnomAD |
|
|
rs1401233677 CA352135220 |
478 | V>A | No |
ClinGen gnomAD |
|
|
CA352135232 rs1158225901 |
480 | L>Q | No |
ClinGen gnomAD |
|
|
CA352135240 rs144370188 |
482 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs917920564 CA72926786 |
484 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2319081 rs777617241 |
486 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA2319082 rs749119464 |
486 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1375880627 CA352135267 |
487 | G>S | No |
ClinGen TOPMed |
|
|
CA352135275 rs1175419252 |
488 | T>A | No |
ClinGen TOPMed |
|
|
rs1223743162 CA352135282 |
489 | T>N | No |
ClinGen gnomAD |
|
|
CA2319084 rs377483334 |
490 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA72926796 rs201101286 |
490 | S>T | No |
ClinGen Ensembl |
|
|
CA2319085 rs377483334 |
490 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1269240824 CA352135288 |
491 | D>N | No |
ClinGen gnomAD |
|
|
rs766327372 CA72926809 |
492 | C>S | No |
ClinGen Ensembl |
|
|
CA2319088 rs760196754 |
492 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA2319089 rs760196754 |
492 | C>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 497 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352135322 rs1164294862 |
497 | V>M | No |
ClinGen gnomAD |
|
|
rs1575590443 CA352135328 |
498 | T>P | No |
ClinGen Ensembl |
|
|
CA352135339 rs1364972061 |
499 | S>C | No |
ClinGen gnomAD |
|
|
CA352135344 rs1422996370 |
500 | V>G | No |
ClinGen gnomAD |
|
|
rs1559656478 CA352135348 |
501 | T>A | No |
ClinGen Ensembl |
|
|
CA352135359 rs1331086132 |
502 | N>K | No |
ClinGen gnomAD |
|
|
rs1559656483 CA352135356 |
502 | N>S | No |
ClinGen Ensembl |
|
|
CA2319095 rs145101309 |
503 | V>A | No |
ClinGen ESP ExAC TOPMed |
|
|
rs751639679 CA2319096 |
506 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2319097 rs200616022 |
507 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1340699779 CA352135387 |
507 | P>H | No |
ClinGen TOPMed |
|
|
CA352135389 rs1273939507 |
508 | K>E | No |
ClinGen TOPMed |
|
|
CA72926846 rs1009805861 |
509 | E>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 510 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352135408 rs1559656524 |
510 | S>L | No |
ClinGen Ensembl |
|
|
CA352135410 rs1247268125 |
511 | S>G | No |
ClinGen gnomAD |
1 associated diseases with Q13705
[MIM: 613751]: Heterotaxy, visceral, 4, autosomal (HTX4)
A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX4 clinical features include dextrocardia, right aortic arch and a right-sided spleen, anomalies of the inferior and the superior vena cava, atrial ventricular canal defect with dextro-transposed great arteries, pulmonary stenosis, polysplenia and midline liver. {ECO:0000269|PubMed:9916847}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX4 clinical features include dextrocardia, right aortic arch and a right-sided spleen, anomalies of the inferior and the superior vena cava, atrial ventricular canal defect with dextro-transposed great arteries, pulmonary stenosis, polysplenia and midline liver. {ECO:0000269|PubMed:9916847}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.30 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| activin receptor complex | A protein complex that acts as an activin receptor. Heterodimeric activin receptors, comprising one Type I activin receptor and one Type II receptor polypeptide, and heterotrimeric receptors have been observed. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| integral component of plasma membrane | The component of the plasma 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| receptor complex | Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| activin binding | Binding to activin, a dimer of inhibin-beta subunits. |
| activin receptor activity | Combining with activin and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. Activin is one of two gonadal glycoproteins related to transforming growth factor beta. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| growth factor binding | Binding to a growth factor, proteins or polypeptides that stimulate a cell or organism to grow or proliferate. |
| metal ion binding | Binding to a metal ion. |
| protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
| protein serine/threonine/tyrosine kinase activity | Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
35 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of protein kinase activity | Any process that initiates the activity of an inactive protein kinase. |
| activin receptor signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to an activin receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| anterior/posterior pattern specification | The regionalization process in which specific areas of cell differentiation are determined along the anterior-posterior axis. The anterior-posterior axis is defined by a line that runs from the head or mouth of an organism to the tail or opposite end of the organism. |
| artery development | The progression of the artery over time, from its initial formation to the mature structure. An artery is a blood vessel that carries blood away from the heart to a capillary bed. |
| blood vessel remodeling | The reorganization or renovation of existing blood vessels. |
| BMP signaling pathway | The series of molecular signals initiated by the binding of a member of the BMP (bone morphogenetic protein) family to a receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| cellular response to growth factor stimulus | 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 growth factor stimulus. |
| determination of left/right symmetry | The establishment of an organism's body plan or part of an organism with respect to the left and right halves. The pattern can either be symmetric, such that the halves are mirror images, or asymmetric where the pattern deviates from this symmetry. |
| embryonic foregut morphogenesis | The process in which the anatomical structures of the foregut are generated and organized, during the embryonic phase. |
| gastrulation with mouth forming second | A gastrulation process in which the initial invagination becomes the anus and the mouth forms second. |
| heart development | The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. |
| insulin secretion | The regulated release of proinsulin from secretory granules accompanied by cleavage of proinsulin to form mature insulin. In vertebrates, insulin is secreted from B granules in the B cells of the vertebrate pancreas and from insulin-producing cells in insects. |
| kidney development | The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and/or excretes the end products of body metabolism in the form of urine. |
| lung development | The process whose specific outcome is the progression of the lung over time, from its formation to the mature structure. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax. |
| lymphangiogenesis | Lymph vessel formation when new vessels emerge from the proliferation of pre-existing vessels. |
| lymphatic endothelial cell differentiation | The process in which a venous blood vessel endothelial cell acquires specialized features of a lymphatic vessel endothelial cell, a thin flattened cell that lines the inside surfaces of lymph vessels. |
| mesoderm development | The process whose specific outcome is the progression of the mesoderm over time, from its formation to the mature structure. The mesoderm is the middle germ layer that develops into muscle, bone, cartilage, blood and connective tissue. |
| negative regulation of cold-induced thermogenesis | Any process that stops, prevents, or reduces the rate of cold-induced thermogenesis. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| odontogenesis of dentin-containing tooth | The process whose specific outcome is the progression of a dentin-containing tooth over time, from its formation to the mature structure. A dentin-containing tooth is a hard, bony organ borne on the jaw or other bone of a vertebrate, and is composed mainly of dentin, a dense calcified substance, covered by a layer of enamel. |
| organ growth | The increase in size or mass of an organ. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that function together as to perform a specific function. |
| pancreas development | The process whose specific outcome is the progression of the pancreas over time, from its formation to the mature structure. The pancreas is an endoderm derived structure that produces precursors of digestive enzymes and blood glucose regulating enzymes. |
| positive regulation of activin receptor signaling pathway | Any process that activates or increases the frequency, rate or extent of the activity of any activin receptor signaling pathway. |
| positive regulation of bone mineralization | Any process that activates or increases the frequency, rate or extent of bone mineralization. |
| positive regulation of osteoblast differentiation | Any process that activates or increases the frequency, rate or extent of osteoblast differentiation. |
| post-embryonic development | The process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. See embryonic development. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| response to glucose | 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 glucose stimulus. |
| retina vasculature development in camera-type eye | The process whose specific outcome is the progression of the vasculature of the retina over time, from its formation to the mature structure. |
| roof of mouth development | The biological process whose specific outcome is the progression of the roof of the mouth from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure. The roof of the mouth is the partition that separates the nasal and oral cavities. |
| 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 morphogenesis | The process in which the anatomical structures of the skeleton are generated and organized. |
| transmembrane receptor protein serine/threonine kinase signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses serine/threonine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| venous blood vessel development | The progression of the venous blood vessel over time from its initial formation to the mature structure. Venous blood vessels carry blood back to the heart after the capillary bed. |
14 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q95126 | ACVR2B | Activin receptor type-2B | Bos taurus (Bovine) | PR |
| Q90999 | TGFBR2 | TGF-beta receptor type-2 | Gallus gallus (Chicken) | PR |
| Q90670 | ACVR2B | Activin receptor type-2B | Gallus gallus (Chicken) | PR |
| P37173 | TGFBR2 | TGF-beta receptor type-2 | Homo sapiens (Human) | PR |
| Q8NER5 | ACVR1C | Activin receptor type-1C | Homo sapiens (Human) | PR |
| P36897 | TGFBR1 | TGF-beta receptor type-1 | Homo sapiens (Human) | PR |
| Q8K592 | Amhr2 | Anti-Muellerian hormone type-2 receptor | Mus musculus (Mouse) | PR |
| Q62312 | Tgfbr2 | TGF-beta receptor type-2 | Mus musculus (Mouse) | PR |
| P27040 | Acvr2b | Activin receptor type-2B | Mus musculus (Mouse) | PR |
| Q66T47 | ACVR2B | Activin receptor type-2B | Sus scrofa (Pig) | PR |
| Q62893 | Amhr2 | Anti-Muellerian hormone type-2 receptor | Rattus norvegicus (Rat) | PR |
| P38438 | Tgfbr2 | TGF-beta receptor type-2 | Rattus norvegicus (Rat) | PR |
| P38445 | Acvr2b | Activin receptor type-2B | Rattus norvegicus (Rat) | PR |
| P50488 | daf-4 | Cell surface receptor daf-4 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTAPWVALAL | LWGSLCAGSG | RGEAETRECI | YYNANWELER | TNQSGLERCE | GEQDKRLHCY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ASWRNSSGTI | ELVKKGCWLD | DFNCYDRQEC | VATEENPQVY | FCCCEGNFCN | ERFTHLPEAG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GPEVTYEPPP | TAPTLLTVLA | YSLLPIGGLS | LIVLLAFWMY | RHRKPPYGHV | DIHEDPGPPP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PSPLVGLKPL | QLLEIKARGR | FGCVWKAQLM | NDFVAVKIFP | LQDKQSWQSE | REIFSTPGMK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HENLLQFIAA | EKRGSNLEVE | LWLITAFHDK | GSLTDYLKGN | IITWNELCHV | AETMSRGLSY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LHEDVPWCRG | EGHKPSIAHR | DFKSKNVLLK | SDLTAVLADF | GLAVRFEPGK | PPGDTHGQVG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TRRYMAPEVL | EGAINFQRDA | FLRIDMYAMG | LVLWELVSRC | KAADGPVDEY | MLPFEEEIGQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| HPSLEELQEV | VVHKKMRPTI | KDHWLKHPGL | AQLCVTIEEC | WDHDAEARLS | AGCVEERVSL |
| 490 | 500 | 510 | |||
| IRRSVNGTTS | DCLVSLVTSV | TNVDLPPKES | SI |