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    Acvr2a activin receptor IIA [ Mus musculus (house mouse) ]

    Gene ID: 11480, updated on 9-Dec-2024

    Summary

    Official Symbol
    Acvr2aprovided by MGI
    Official Full Name
    activin receptor IIAprovided by MGI
    Primary source
    MGI:MGI:102806
    See related
    Ensembl:ENSMUSG00000052155 AllianceGenome:MGI:102806
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Acvr2; ActrIIa; TactrII
    Summary
    Enables several functions, including PDZ domain binding activity; activin binding activity; and transmembrane receptor protein serine/threonine kinase activity. Involved in BMP signaling pathway. Acts upstream of or within several processes, including Sertoli cell proliferation; copulation; and regionalization. Located in cell surface. Is active in plasma membrane. Is expressed in several structures, including central nervous system; early conceptus; gonad; gut; and sensory organ. Used to study Weissenbacher-Zweymuller syndrome. Human ortholog(s) of this gene implicated in Lynch syndrome and colon cancer. Orthologous to human ACVR2A (activin A receptor type 2A). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in CNS E18 (RPKM 16.6), whole brain E14.5 (RPKM 12.4) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Acvr2a in Genome Data Viewer
    Location:
    2 C1.1; 2 28.38 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (48704121..48793276)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (48814109..48903264)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 31324 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:48804892-48805001 Neighboring gene origin recognition complex, subunit 4 Neighboring gene methyl-CpG binding domain protein 5 Neighboring gene predicted gene 13510 Neighboring gene adaptor-related protein complex 2, mu 1 subunit, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (5) 
    • Gene trapped (1) 
    • Targeted (5)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables BMP receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables PDZ domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables activin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to activin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables activin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables activin receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to activin receptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables activin receptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables activin receptor activity, type I IEA
    Inferred from Electronic Annotation
    more info
     
    enables activin receptor activity, type II IEA
    Inferred from Electronic Annotation
    more info
     
    enables coreceptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables coreceptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables growth factor binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables growth factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables inhibin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables inhibin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein serine/threonine kinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein serine/threonine kinase activity TAS
    Traceable Author Statement
    more info
     
    enables transforming growth factor beta receptor activity, type I IEA
    Inferred from Electronic Annotation
    more info
     
    enables transforming growth factor beta receptor activity, type II IEA
    Inferred from Electronic Annotation
    more info
     
    enables transforming growth factor beta receptor activity, type III IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    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 
    acts_upstream_of_or_within BMP signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    involved_in BMP signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in SMAD protein signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within Sertoli cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in activin receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in activin receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in activin receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within anterior/posterior pattern specification IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in autophagy ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to BMP stimulus ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to growth factor stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular response to oxygen-glucose deprivation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within determination of left/right symmetry IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within embryonic skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within gastrulation with mouth forming second IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within male gonad development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within mesoderm development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within odontogenesis of dentin-containing tooth IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in pattern specification process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within penile erection IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of SMAD protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of SMAD protein signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of activin receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of activin receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of bone mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of bone mineralization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of erythrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of erythrocyte differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of follicle-stimulating hormone secretion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of osteoblast differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of protein phosphorylation ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of nitric oxide biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within sperm ejaculation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within spermatogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of activin receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    part_of inhibin-betaglycan-ActRII complex IEA
    Inferred from Electronic Annotation
    more info
     
    part_of inhibin-betaglycan-ActRII complex ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of receptor complex IEA
    Inferred from Electronic Annotation
    more info
     
    part_of receptor complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    activin receptor type-2A
    Names
    ACTR-IIA
    activin receptor type IIA
    NP_031422.3
    XP_006497686.1

    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_007396.4NP_031422.3  activin receptor type-2A precursor

      See identical proteins and their annotated locations for NP_031422.3

      Status: VALIDATED

      Source sequence(s)
      AK041246, AK143186, BG066107, BY014959, CK340532
      Consensus CDS
      CCDS16021.1
      UniProtKB/Swiss-Prot
      P27038
      UniProtKB/TrEMBL
      A2AI38, Q8BRV4
      Related
      ENSMUSP00000067305.4, ENSMUST00000063886.4
      Conserved Domains (2) summary
      cd14141
      Location:196485
      STKc_ACVR2a; Catalytic domain of the Serine/Threonine Kinase, Activin Type IIA Receptor
      pfam01064
      Location:59114
      Activin_recp; Activin types I and II receptor domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      48704121..48793276
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006497623.5XP_006497686.1  activin receptor type-2A isoform X1

      See identical proteins and their annotated locations for XP_006497686.1

      UniProtKB/TrEMBL
      Q8BRV4
      Conserved Domains (2) summary
      cd14141
      Location:204493
      STKc_ACVR2a; Catalytic domain of the Serine/Threonine Kinase, Activin Type IIA Receptor
      pfam01064
      Location:59114
      Activin_recp; Activin types I and II receptor domain