U.S. flag

An official website of the United States government

ACVR2A activin A receptor type 2A [ Homo sapiens (human) ]

Gene ID: 92, updated on 4-Jan-2025

Summary

Official Symbol
ACVR2Aprovided by HGNC
Official Full Name
activin A receptor type 2Aprovided by HGNC
Primary source
HGNC:HGNC:173
See related
Ensembl:ENSG00000121989 MIM:102581; AllianceGenome:HGNC:173
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 a receptor that mediates the functions of activins, which are members of the transforming growth factor-beta (TGF-beta) superfamily involved in diverse biological processes. The encoded protein is a transmembrane serine-threonine kinase receptor which mediates signaling by forming heterodimeric complexes with various combinations of type I and type II receptors and ligands in a cell-specific manner. The encoded type II receptor is primarily involved in ligand-binding and includes an extracellular ligand-binding domain, a transmembrane domain and a cytoplasmic serine-threonine kinase domain. This gene may be associated with susceptibility to preeclampsia, a pregnancy-related disease which can result in maternal and fetal morbidity and mortality. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jun 2013]
Expression
Ubiquitous expression in skin (RPKM 13.5), gall bladder (RPKM 6.4) and 25 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See ACVR2A in Genome Data Viewer
Location:
2q22.3-q23.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (147844517..147930822)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (148294972..148381274)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (148602086..148688391)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:148484865-148485505 Neighboring gene RNA, 5S ribosomal pseudogene 106 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:148513531-148514185 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:148600948-148601698 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11995 Neighboring gene ribosomal protein L26 pseudogene 14 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11996 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11997 Neighboring gene RNA, U6 small nuclear 1275, pseudogene Neighboring gene uncharacterized LOC105373674 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:148765513-148766712 Neighboring gene origin recognition complex subunit 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:148777951-148778548 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16614 Neighboring gene uncharacterized LOC105373673 Neighboring gene NANOG hESC enhancer GRCh37_chr2:148795224-148795725 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16615 Neighboring gene methyl-CpG binding domain protein 5

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
EBI GWAS Catalog
Genome-wide association of lipid-lowering response to statins in combined study populations.
EBI GWAS Catalog

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding  
enables BMP receptor activity  
enables PDZ domain binding  
contributes_to activin binding PubMed 
contributes_to activin receptor activity PubMed 
enables activin receptor activity PubMed 
enables activin receptor activity, type I PubMed 
enables activin receptor activity, type II PubMed 
enables coreceptor activity PubMed 
enables growth factor binding  
enables identical protein binding  
enables inhibin binding  
enables metal ion binding  
contributes_to protein binding PubMed 
enables protein binding PubMed 
enables protein serine/threonine kinase activity PubMed 
enables protein serine/threonine kinase activity  
enables transforming growth factor beta receptor activity, type I  
enables transforming growth factor beta receptor activity, type II  
enables transforming growth factor beta receptor activity, type III  
enables transmembrane receptor protein serine/threonine kinase activity PubMed 
Items 1 - 25 of 28
Process Evidence Code Pubs
involved_in BMP signaling pathway PubMed 
acts_upstream_of_or_within BMP signaling pathway PubMed 
involved_in BMP signaling pathway PubMed 
involved_in Sertoli cell proliferation  
involved_in activin receptor signaling pathway  
involved_in activin receptor signaling pathway PubMed 
involved_in anterior/posterior pattern specification  
involved_in cell surface receptor protein serine/threonine kinase signaling pathway PubMed 
involved_in cellular response to BMP stimulus PubMed 
involved_in cellular response to growth factor stimulus  
involved_in determination of left/right symmetry  
involved_in embryonic skeletal system development  
involved_in gastrulation with mouth forming second  
involved_in mesoderm development  
involved_in odontogenesis of dentin-containing tooth  
involved_in osteoblast differentiation PubMed 
involved_in pattern specification process  
involved_in penile erection  
involved_in positive regulation of SMAD protein signal transduction PubMed 
involved_in positive regulation of activin receptor signaling pathway PubMed 
involved_in positive regulation of bone mineralization PubMed 
involved_in positive regulation of erythrocyte differentiation PubMed 
involved_in positive regulation of osteoblast differentiation PubMed 
acts_upstream_of_or_within positive regulation of protein phosphorylation PubMed 
involved_in positive regulation of transcription by RNA polymerase II PubMed 
involved_in regulation of nitric oxide biosynthetic process  
involved_in sperm ejaculation  
involved_in spermatogenesis  
Items 1 - 25 of 28
Component Evidence Code Pubs
part_of activin receptor complex  
located_in cell surface  
located_in cytoplasm PubMed 
part_of inhibin-betaglycan-ActRII complex PubMed 
is_active_in plasma membrane  
located_in plasma membrane  
part_of receptor complex PubMed 

General protein information

Preferred Names
activin receptor type-2A
Names
activin A receptor, type IIA
NP_001265508.1
NP_001265509.1
NP_001607.1
XP_047302248.1
XP_054200482.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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)

  1. NM_001278579.2NP_001265508.1  activin receptor type-2A isoform 1 precursor

    See identical proteins and their annotated locations for NP_001265508.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AK301629, AW162986, BG616903, BM503220, BU676046, DA531622, DN918410, M93415, T07746, W03601
    Consensus CDS
    CCDS33301.1
    UniProtKB/Swiss-Prot
    B2RAB8, B4DWQ2, D3DP85, P27037, Q53TH4, Q6NWV2, Q92474
    Related
    ENSP00000384338.1, ENST00000404590.1
    Conserved Domains (2) summary
    cd14141
    Location:196485
    STKc_ACVR2a; Catalytic domain of the Serine/Threonine Kinase, Activin Type IIA Receptor
    pfam01064
    Location:38114
    Activin_recp; Activin types I and II receptor domain
  2. NM_001278580.2NP_001265509.1  activin receptor type-2A isoform 2

    See identical proteins and their annotated locations for NP_001265509.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon and uses an alternate splice site in an internal exon, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK301629, AW162986, BG616903, BM503220, BU676046, DA531622, DN918410, M93415, T07746, W03601
    Consensus CDS
    CCDS63030.1
    UniProtKB/Swiss-Prot
    P27037
    Related
    ENSP00000439988.1, ENST00000535787.5
    Conserved Domains (1) summary
    cd14141
    Location:88377
    STKc_ACVR2a; Catalytic domain of the Serine/Threonine Kinase, Activin Type IIA Receptor
  3. NM_001616.5NP_001607.1  activin receptor type-2A isoform 1 precursor

    See identical proteins and their annotated locations for NP_001607.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AW162986, BC067417, BG616903, BM503220, BU676046, DA531622, DN918410, T07746, W03601, X62381
    Consensus CDS
    CCDS33301.1
    UniProtKB/Swiss-Prot
    B2RAB8, B4DWQ2, D3DP85, P27037, Q53TH4, Q6NWV2, Q92474
    Related
    ENSP00000241416.7, ENST00000241416.12
    Conserved Domains (2) summary
    cd14141
    Location:196485
    STKc_ACVR2a; Catalytic domain of the Serine/Threonine Kinase, Activin Type IIA Receptor
    pfam01064
    Location:38114
    Activin_recp; Activin types I and II receptor domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    147844517..147930822
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047446292.1XP_047302248.1  activin receptor type-2A isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    148294972..148381274
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054344507.1XP_054200482.1  activin receptor type-2A isoform X1

External link. Please review our privacy policy.