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

Gene ID: 92, updated on 1-Jun-2020

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
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

Genomic context

See ACVR2A in Genome Data Viewer
Location:
2q22.3-q23.1
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (147844517..147930827)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (148602086..148688396)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 106 Neighboring gene ribosomal protein L26 pseudogene 14 Neighboring gene RNA, U6 small nuclear 1275, pseudogene Neighboring gene uncharacterized LOC105373674 Neighboring gene origin recognition complex subunit 4 Neighboring gene uncharacterized LOC105373673 Neighboring gene methyl-CpG binding domain protein 5

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
BMP receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
PDZ domain binding IEA
Inferred from Electronic Annotation
more info
 
contributes_to activin binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 binding IEA
Inferred from Electronic Annotation
more info
 
metal ion 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
PubMed 
protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane receptor protein serine/threonine kinase activity TAS
Traceable Author Statement
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
activin receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
anterior/posterior pattern specification IEA
Inferred from Electronic Annotation
more info
 
cellular response to BMP stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to growth factor stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 osteoblast differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of pathway-restricted SMAD protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of nitric-oxide synthase activity 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
activin receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell surface IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
inhibin-betaglycan-ActRII complex IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
receptor complex IPI
Inferred from Physical Interaction
more info
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

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)

  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
    P27037
    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:50114
    Activin_recp; Activin types I and II receptor domain
  2. NM_001278580.1NP_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)
    AA125825, 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
    P27037
    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:50114
    Activin_recp; Activin types I and II receptor domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    147844517..147930827
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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