ACVR2A activin A receptor, type IIA [Homo sapiens] - Gene

Help top of page

Summary

Official Symbol: ACVR2Aprovided by HGNC
Official Full Name: activin A receptor, type IIAprovided by HGNC
Primary source: HGNC:173
See related: Ensembl:ENSG00000121989; HPRD:00025; MIM:102581; Vega:OTTHUMG00000150603
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ACVR2; ACTRII
Summary: This gene encodes activin A type II receptor. Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. [provided by RefSeq, Jul 2008]

Help top of page

Genomic context

Location :: 2q22.3

Sequence :: Chromosome: 2; NC_000002.11 (148602570..148688393)

See ACVR2A in Epigenomics, MapViewer

Chromosome 2 - NC_000002.11 Genomic Context describing neighboring genes

Help top of page

Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Help top of page

Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Exonic selectivity for frameshift mutation within ACVR2 is specifically controlled by individual nucleotides flanking each coding ACVR2 microsatellite.
Title: Flanking nucleotide specificity for DNA mismatch repair-deficient frameshifts within activin receptor 2 (ACVR2).
Meta-analysis of gene-disease association. (HuGE Navigator)
Title: Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolism and breast cancer risk in the NCI breast and prostate cancer cohort consortium.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Mutation in activin type II receptor is associated with colorectal cancer.
Title: Mesalazine reduces mutations in transforming growth factor beta receptor II and activin type II receptor by improvement of replication fidelity in mononucleotide repeats.
Of 51 microsatellite stable colon tumors, 7 (14%) lost ACVR2, 2 (4%) ACVR1, and 5 (10%) pSMAD2 expression.
Title: Activin signaling in microsatellite stable colon cancers is disrupted by a combination of genetic and epigenetic mechanisms.
The four most frequently mutated genes in colorectal cancers with microsatellite instability were ACVR2 (92%), TAF1B (84%), ASTE1/HT001 (80%) and TGFBR2 (77%).
Title: Tumor-infiltrating lymphocytes in colorectal cancers with microsatellite instability are correlated with the number and spectrum of frameshift mutations.
ActRII signaling is required for prostatic cancer cell and neuroblastoma cell viability, with ActRII mediating cell fate via the regulation of cell adhesion
Title: Activin receptor signaling regulates prostatic epithelial cell adhesion and viability.
It remains unclear what role, if any, ACVR2A polymorphisms play in pre-eclampsia risk, at least in these Australian families.
Title: Genetic association of the activin A receptor gene (ACVR2A) and pre-eclampsia.
Populations with different ancestors (Iceland/Norway-Australia/New Zealand) demonstrate a common maternal pre-eclampsia susceptibility locus on chromosome 2q22-23, may suggests a general role of this locus, and possibly the ACVR2A gene, in pre-eclampsia.
Title: Association between the candidate susceptibility gene ACVR2A on chromosome 2q22 and pre-eclampsia in a large Norwegian population-based study (the HUNT study).
The -1 bp frameshift mutation rates of TGFBR2 and ACVR2 microsatellite sequences are dependent upon the human DNA Mismatch
Title: Mutation rates of TGFBR2 and ACVR2 coding microsatellites in human cells with defective DNA mismatch repair.

Submit: New GeneRIF Correction See all (22)

Help top of page

Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Genome-wide association of lipid-lowering response to statins in combined study populations.

Help top of page

Products	Interactant	Other Gene	Source	Pubs	Description
P27037	P37023	ACVRL1	HPRD	PubMed
P27037	P22004	BMP6	HPRD	PubMed
P27037	P18075	BMP7	HPRD	PubMed
P27037	P17813	ENG	HPRD	PubMed
P27037	P43026	GDF5	HPRD	PubMed
P27037	O60383	GDF9	HPRD	PubMed
P27037	Immunoglobulin superfamily member 1	IGSF1	HPRD	PubMed
P27037	P08476	INHBA	HPRD	PubMed
P27037	P09529	INHBB	HPRD	PubMed
P27037	P55103	INHBC	HPRD	PubMed
P27037	Q86UL8	MAGI2	HPRD	PubMed
P27037	P57105	SYNJ2BP	HPRD	PubMed
P27037	Tctex2 beta	TCTEX1D4	HPRD	PubMed
P27037	Q03167	TGFBR3	HPRD	PubMed
BioGRID:106607	BioGRID:106606	ACVR1B	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106607	BioGRID:107122	BMP6	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106607	BioGRID:107123	BMP7	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106607	BioGRID:108337	ENG	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106607	BioGRID:113839	GDF5	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106607	BioGRID:109763	IGSF1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106607	BioGRID:109835	INHA	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106607	BioGRID:109836	INHBA	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106607	BioGRID:109837	INHBB	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106607	BioGRID:115197	MAGI2	BioGRID	PubMed	Two-hybrid
BioGRID:106607	BioGRID:120614	SYNJ2BP	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:106607	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
contributes_to activin binding	IPI Inferred from Physical Interaction more info	PubMed
activin receptor activity, type II	TAS Traceable Author Statement more info
contributes_to activin-activated receptor activity	IDA Inferred from Direct Assay more info	PubMed
coreceptor activity	IDA Inferred from Direct Assay more info	PubMed
growth factor binding	IEA Inferred from Electronic Annotation more info
inhibin beta-A binding	IEA Inferred from Electronic Annotation more info
inhibin beta-B binding	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein self-association	IEA Inferred from Electronic Annotation more info
protein serine/threonine kinase activity	EXP Inferred from Experiment more info
receptor activity	IEA Inferred from Electronic Annotation more info
receptor signaling protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info
transforming growth factor beta-activated receptor activity	IEA Inferred from Electronic Annotation more info
transmembrane receptor protein serine/threonine kinase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
BMP signaling pathway	IDA Inferred from Direct Assay more info	PubMed
BMP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
BMP signaling pathway	TAS Traceable Author Statement more info
Sertoli cell proliferation	IEA Inferred from Electronic Annotation more info
activin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
anterior/posterior pattern specification	IEA Inferred from Electronic Annotation more info
determination of left/right symmetry	IEA Inferred from Electronic Annotation more info
embryonic skeletal system development	IEA Inferred from Electronic Annotation more info
gastrulation with mouth forming second	IEA Inferred from Electronic Annotation more info
mesoderm development	IEA Inferred from Electronic Annotation more info
penile erection	IEA Inferred from Electronic Annotation more info
positive regulation of activin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
positive regulation of bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of erythrocyte differentiation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of follicle-stimulating hormone secretion	IEA Inferred from Electronic Annotation more info
positive regulation of osteoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of BMP signaling pathway	IEA Inferred from Electronic Annotation more info
regulation of nitric-oxide synthase activity	IEA Inferred from Electronic Annotation more info
response to organic substance	IEA Inferred from Electronic Annotation more info
sperm ejaculation	IEA Inferred from Electronic Annotation more info
spermatogenesis	IEA Inferred from Electronic Annotation more info
transmembrane receptor protein serine/threonine kinase signaling pathway	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
inhibin-betaglycan-ActRII complex	IDA Inferred from Direct Assay more info	PubMed
integral to plasma membrane	TAS Traceable Author Statement more info	PubMed
plasma membrane	TAS Traceable Author Statement more info

General protein information

Preferred Names: activin receptor type-2A

Names: activin receptor type-2A

NP_001607.1

EC 2.7.11.30

Help top of page

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001616.3 → NP_001607.1 activin receptor type-2A precursor

Status: REVIEWED

Source sequence(s)

AC009480, BC067418, BC069707, BX645435

Consensus CDS

CCDS33301.1

UniProtKB/Swiss-Prot

P27037

Related

ENSP00000241416, OTTHUMP00000197917, ENST00000241416, OTTHUMT00000319051

Conserved Domains (3) summary

cd00180
Location:200 – 399
Blast Score: 372

PKc; Catalytic domain of Protein Kinases

pfam01064
Location:59 – 116
Blast Score: 118

Activin_recp; Activin types I and II receptor domain

pfam00069
Location:200 – 472
Blast Score: 543

Pkinase; Protein kinase domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000002.11 Reference GRCh37.p5 Primary Assembly

Range

148602570..148688393

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000134.1 Alternate HuRef

Range

140599673..140685762

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Help top of page

Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC009480.4	AAX93050.1
genomic	CH471058.2	EAX11561.1
		EAX11562.1
genomic	JA738723.1	CCF77014.1
mRNA	AK301629.1	BAG63114.1
mRNA	AK314124.1	BAG36815.1
mRNA	BC067416.1	None
mRNA	BC067417.1	AAH67417.1
mRNA	BC067418.1	AAH67418.1
mRNA	BC069707.1	AAH69707.1
mRNA	BX645435.1	None
mRNA	D31770.1	BAA06548.1
mRNA	M93415.1	AAA35504.1
mRNA	X62381.1	CAA44245.1
mRNA	X63128.1	CAA44839.1