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

Gene ID: 93, updated on 1-Jun-2020

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
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

Genomic context

See ACVR2B in Genome Data Viewer
Location:
3p22.2
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (38453890..38493142)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (38495790..38534633)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene DLEC1 pseudogene 1 Neighboring gene xylulokinase Neighboring gene ACVR2B antisense RNA 1 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

NHGRI GWAS Catalog

Description
Genetic determinants of P wave duration and PR segment.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC116908

Gene Ontology Provided by GOA

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

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
    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: 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_000003.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

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

    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_005265583.3XP_005265640.1  activin receptor type-2B isoform X1

    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_017007514.1XP_016863003.1  activin receptor type-2B isoform X2

  4. XM_017007516.1XP_016863005.1  activin receptor type-2B isoform X4

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