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

Gene ID: 93, updated on 12-Aug-2018

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; Vega:OTTHUMG00000131291
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 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (38454299..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 deleted in lung and esophageal cancer 1 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat'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 BioSystems

  • Activin signaling, organism-specific biosystem (from KEGG)
    Activin signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
  • Activin signaling, conserved biosystem (from KEGG)
    Activin signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
  • BMP signaling, organism-specific biosystem (from KEGG)
    BMP signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
  • BMP signaling, conserved biosystem (from KEGG)
    BMP signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
  • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
    Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
  • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
    Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Factors and pathways affecting insulin-like growth factor (IGF1)-Akt signaling, organism-specific biosystem (from WikiPathways)
    Factors and pathways affecting insulin-like growth factor (IGF1)-Akt signaling, organism-specific biosystemThe signaling pathway that involves insulin-like growth factor 1 (IGF1), and a variety of other components that affect the pathway, plays an important role in the regulation of skeletal muscle growth...
  • Fluid shear stress and atherosclerosis, organism-specific biosystem (from KEGG)
    Fluid shear stress and atherosclerosis, organism-specific biosystemShear stress represents the frictional force that the flow of blood exerts at the endothelial surface of the vessel wall and plays a central role in vascular biology and contributes to the progress o...
  • Fluid shear stress and atherosclerosis, conserved biosystem (from KEGG)
    Fluid shear stress and atherosclerosis, conserved biosystemShear stress represents the frictional force that the flow of blood exerts at the endothelial surface of the vessel wall and plays a central role in vascular biology and contributes to the progress o...
  • Mesodermal Commitment Pathway, organism-specific biosystem (from WikiPathways)
    Mesodermal Commitment Pathway, organism-specific biosystemModel depicting mesodermal specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell l...
  • Regulation of signaling by NODAL, organism-specific biosystem (from REACTOME)
    Regulation of signaling by NODAL, organism-specific biosystemMature NODAL can form heterodimers with LEFTY1, LEFTY2, or CERBERUS. The heterodimers do not activate the NODAL receptor. LEFTY1 and LEFTY2 also bind CRIPTO and CRYPTIC coreceptors and prevent them f...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Activin, organism-specific biosystem (from REACTOME)
    Signaling by Activin, organism-specific biosystemActivin was initially discovered as an activator of follicle stimulating hormone in the pituitary gland. It has since been shown to be an important participant in the differentiation of embryonic cel...
  • Signaling by BMP, organism-specific biosystem (from REACTOME)
    Signaling by BMP, organism-specific biosystemBone morphogenetic proteins (BMPs) have many biological activities in various tissues, including bone, cartilage, blood vessels, heart, kidney, neurons, liver and lung. They are members of the Transf...
  • Signaling by NODAL, organism-specific biosystem (from REACTOME)
    Signaling by NODAL, organism-specific biosystemSignaling by NODAL is essential for patterning of the axes of the embryo and formation of mesoderm and endoderm (reviewed in Schier 2009, Shen 2007). The NODAL proprotein is secreted and cleaved extr...
  • Signaling pathways regulating pluripotency of stem cells, organism-specific biosystem (from KEGG)
    Signaling pathways regulating pluripotency of stem cells, organism-specific biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
  • Signaling pathways regulating pluripotency of stem cells, conserved biosystem (from KEGG)
    Signaling pathways regulating pluripotency of stem cells, conserved biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
  • TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
    TGF-beta signaling pathway, organism-specific biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
  • TGF-beta signaling pathway, conserved biosystem (from KEGG)
    TGF-beta signaling pathway, conserved biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...

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
 
SMAD binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
activin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
activin binding IEA
Inferred from Electronic Annotation
more info
 
contributes_to activin receptor activity, type II TAS
Traceable Author Statement
more info
PubMed 
growth factor binding 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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein serine/threonine/tyrosine kinase activity IEA
Inferred from Electronic Annotation
more info
 
transforming growth factor beta receptor activity, type II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transforming growth factor beta-activated receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
type I transforming growth factor beta receptor binding IBA
Inferred from Biological aspect of Ancestor
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
 
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
 
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
 
pattern specification process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IEA
Inferred from Electronic Annotation
more info
 
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
 
transforming growth factor beta receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
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
    5001..43844
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001106.3NP_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, OTTHUMP00000161965, ENST00000352511.4, OTTHUMT00000254059
    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 Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    38454299..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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