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

    Gene ID: 92, updated on 8-Jul-2021

    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
    NEW
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    Genomic context

    See ACVR2A in Genome Data Viewer
    Location:
    2q22.3-q23.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (147844517..147930822)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (148602086..148688391)

    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

    Associated conditions

    Description Tests
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    GeneReviews: Not available
    Genome-wide association of lipid-lowering response to statins in combined study populations.
    GeneReviews: Not available

    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
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables BMP receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables 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 
    enables coreceptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables growth factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables inhibin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein self-association IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein serine/threonine kinase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables transmembrane receptor protein serine/threonine kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within BMP signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in BMP signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in Sertoli cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in activin receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in activin receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in anterior/posterior pattern specification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to BMP stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to growth factor stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in determination of left/right symmetry IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic skeletal system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gastrulation with mouth forming second IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mesoderm development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in odontogenesis of dentin-containing tooth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in penile erection IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of activin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of bone mineralization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of erythrocyte differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of osteoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of pathway-restricted SMAD protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of nitric-oxide synthase activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sperm ejaculation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transmembrane receptor protein serine/threonine kinase signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of activin receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of inhibin-betaglycan-ActRII complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of 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)

    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
      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: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
      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:38114
      Activin_recp; Activin types I and II receptor domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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