Gene table of ACVR2B : activin A receptor type 2B

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ACVR2B	OMIM link	Number of associated genes	genes
PS306955	HETEROTAXY, VISCERAL	ClinVar, OMIM, HUMSAVAR	link to OMIM	6	NODAL, MMP21, CFAP53, ZIC3, CFC1, ACVR2B

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Annotation of the gene ACVR2B

Associated genes in ENSEMBL

ENSG00000114739

Associated proteins - SwissProt Accession ID

Q13705

Associated PDB IDs

Cytogenetic Band

3p22.2

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
TGF-beta signaling pathway	hsa04350	6.41
Signaling pathways regulating pluripotency of stem cells	hsa04550	5.6
Cytokine-cytokine receptor interaction	hsa04060	4.67

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Signaling by NODAL	R-HSA-1181150	8.73
Signaling by Activin	R-HSA-1502540	9.28
Developmental Biology	R-HSA-1266738	3.48
Regulation of signaling by NODAL	R-HSA-1433617	9.66
Signaling by BMP	R-HSA-201451	8.46
Signal Transduction	R-HSA-162582	1.78

Associated GO terms for Molecular function

GO term	GO ID	GO IC
signaling receptor activity	GO:0038023	2.49
activin-activated receptor activity	GO:0017002	7.79
heterocyclic compound binding	GO:1901363	1.06
molecular transducer activity	GO:0060089	2.32
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
signal transducer activity	GO:0004871	2.28
nucleotide binding	GO:0000166	1.96
transmembrane receptor activity	GO:0099600	2.53
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
cation binding	GO:0043169	1.4
receptor signaling protein activity	GO:0005057	4.76
growth factor binding	GO:0019838	4.89
purine ribonucleoside triphosphate binding	GO:0035639	2.22
ion binding	GO:0043167	1.36
transmembrane receptor protein serine/threonine kinase activity	GO:0004675	6.91
protein serine/threonine kinase activity	GO:0004674	3.64
transferase activity	GO:0016740	1.95
protein serine/threonine/tyrosine kinase activity	GO:0004712	6.07
nucleoside phosphate binding	GO:1901265	1.96
ribonucleoside binding	GO:0032549	2.22
protein complex binding	GO:0032403	3.09
purine nucleotide binding	GO:0017076	2.19
activin receptor activity, type II	GO:0016362	9.05
metal ion binding	GO:0046872	1.41
ATP binding	GO:0005524	2.43
kinase activity	GO:0016301	2.93
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
inhibin binding	GO:0034711	7.95
protein kinase activity	GO:0004672	3.27
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
phosphotransferase activity, alcohol group as acceptor	GO:0016773	3.08
transmembrane signaling receptor activity	GO:0004888	2.57
adenyl ribonucleotide binding	GO:0032559	2.41
ribonucleotide binding	GO:0032553	2.19
protein binding	GO:0005515	0.46
receptor signaling protein serine/threonine kinase activity	GO:0004702	5.23
purine ribonucleotide binding	GO:0032555	2.2
transmembrane receptor protein kinase activity	GO:0019199	5.32
purine ribonucleoside binding	GO:0032550	2.22
activin binding	GO:0048185	7.25
receptor activity	GO:0004872	2.32