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    ACVR2B activin A receptor type 2B [ Homo sapiens (human) ]

    Gene ID: 93, updated on 2-May-2024

    Summary

    Official Symbol
    ACVR2Bprovided by HGNC
    Official Full Name
    activin A receptor type 2Bprovided by HGNC
    Primary source
    HGNC:HGNC:174
    See related
    Ensembl:ENSG00000114739 MIM:602730; AllianceGenome:HGNC:174
    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
    HTX4; ACTRIIB; ActR-IIB
    Summary
    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. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 1.5), brain (RPKM 1.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    3p22.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (38453890..38493142)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (38459967..38499186)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (38495381..38534633)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene DLEC1 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:38388053-38388884 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:38388885-38389716 Neighboring gene xylulokinase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:38415461-38415962 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:38447285-38447785 Neighboring gene MPRA-validated peak4613 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:38494963-38495462 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14212 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:38496067-38496650 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:38496651-38497235 Neighboring gene ACVR2B antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:38518043-38518542 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19685 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19686 Neighboring gene exo/endonuclease G Neighboring gene ribosomal protein L18a pseudogene 7 Neighboring gene D-dopachrome tautomerase pseudogene 1

    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
    Heterotaxy, visceral, 4, autosomal
    MedGen: C3151057 OMIM: 613751 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genetic determinants of P wave duration and PR segment.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC116908

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables activin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables activin receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables activin receptor activity, type II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to activin receptor activity, type II TAS
    Traceable Author Statement
    more info
    PubMed 
    enables growth factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables kinase activator activity IEA
    Inferred from Electronic Annotation
    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 EXP
    Inferred from Experiment
    more info
    PubMed 
    enables protein serine/threonine kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein serine/threonine/tyrosine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in BMP signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in BMP signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in activin receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in activin receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in anterior/posterior pattern specification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in artery development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in blood vessel remodeling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell surface receptor protein serine/threonine kinase signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to growth factor stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in determination of left/right symmetry IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic foregut morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gastrulation with mouth forming second IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in insulin secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in kidney development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lung development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lymphangiogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in lymphatic endothelial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mesoderm development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in odontogenesis of dentin-containing tooth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in organ growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pancreas development 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 osteoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to glucose IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retina vasculature development in camera-type eye ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in roof of mouth development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in skeletal system morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in venous blood vessel development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    part_of activin receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of receptor complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    General protein information

    Preferred Names
    activin receptor type-2B
    Names
    activin A receptor, type IIB
    NP_001097.2
    XP_005265640.1
    XP_016863003.1
    XP_016863004.1
    XP_016863005.1

    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.

    Genomic

    1. NG_011791.1 RefSeqGene

      Range
      4592..43844
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001106.4NP_001097.2  activin receptor type-2B precursor

      See identical proteins and their annotated locations for NP_001097.2

      Status: REVIEWED

      Source sequence(s)
      AP006191, BC099642, BP352716
      Consensus CDS
      CCDS2679.1
      UniProtKB/Swiss-Prot
      Q13705, Q4VAV0
      UniProtKB/TrEMBL
      Q59FL1
      Related
      ENSP00000340361.3, ENST00000352511.5
      Conserved Domains (2) summary
      cd14140
      Location:194484
      STKc_ACVR2b; Catalytic domain of the Serine/Threonine Kinase, Activin Type IIB Receptor
      pfam01064
      Location:41110
      Activin_recp; Activin types I and II receptor domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      38453890..38493142
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017007515.3XP_016863004.1  activin receptor type-2B isoform X3

      UniProtKB/TrEMBL
      Q59FL1
      Conserved Domains (2) summary
      cd14140
      Location:200490
      STKc_ACVR2b; Catalytic domain of the Serine/Threonine Kinase, Activin Type IIB Receptor
      pfam01064
      Location:47116
      Activin_recp; Activin types I and II receptor domain
    2. XM_005265583.4XP_005265640.1  activin receptor type-2B isoform X1

      UniProtKB/TrEMBL
      Q59FL1
      Conserved Domains (3) summary
      smart00220
      Location:219492
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd14140
      Location:215505
      STKc_ACVR2b; Catalytic domain of the Serine/Threonine Kinase, Activin Type IIB Receptor
      pfam01064
      Location:48138
      Activin_recp; Activin types I and II receptor domain
    3. XM_017007514.2XP_016863003.1  activin receptor type-2B isoform X2

      UniProtKB/TrEMBL
      Q59FL1
    4. XM_017007516.2XP_016863005.1  activin receptor type-2B isoform X4

      UniProtKB/TrEMBL
      Q59FL1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      38459967..38499186
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)