Homo sapiens Gene: ACVR2A
Summary
InnateDB Gene IDBG-71761.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ACVR2A
Gene Name activin A receptor, type IIA
Synonyms ACTRII; ACVR2
Species Homo sapiens
Ensembl Gene ENSG00000121989
Encoded Proteins
activin A receptor, type IIA
activin A receptor, type IIA
activin A receptor, type IIA
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes activin A type II receptor. 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. [provided by RefSeq, Jul 2008]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:147844517-147930826
Strand Forward strand
Band q22.3
Transcripts
ENST00000241416 ENSP00000241416
ENST00000404590 ENSP00000384338
ENST00000487959
ENST00000462659
ENST00000465329
ENST00000495775
ENST00000535787 ENSP00000439988
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated
Total 25 [view]
Protein-Protein 25 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004672 protein kinase activity
GO:0004674 protein serine/threonine kinase activity
GO:0004675 transmembrane receptor protein serine/threonine kinase activity
GO:0004702 receptor signaling protein serine/threonine kinase activity
GO:0004713 protein tyrosine kinase activity
GO:0005024 transforming growth factor beta-activated receptor activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0015026 coreceptor activity
GO:0016772 transferase activity, transferring phosphorus-containing groups
GO:0017002 activin-activated receptor activity
GO:0019838 growth factor binding
GO:0030165 PDZ domain binding
GO:0034711 inhibin binding
GO:0043621 protein self-association
GO:0046872 metal ion binding
GO:0048185 activin binding
Biological Process
GO:0001702 gastrulation with mouth forming second
GO:0001934 positive regulation of protein phosphorylation
GO:0006468 protein phosphorylation
GO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway
GO:0007283 spermatogenesis
GO:0007368 determination of left/right symmetry
GO:0007498 mesoderm development
GO:0008584 male gonad development
GO:0009952 anterior/posterior pattern specification
GO:0009966 regulation of signal transduction
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation
GO:0023014 signal transduction by phosphorylation
GO:0030501 positive regulation of bone mineralization
GO:0030509 BMP signaling pathway
GO:0030510 regulation of BMP signaling pathway
GO:0032924 activin receptor signaling pathway
GO:0032927 positive regulation of activin receptor signaling pathway
GO:0042713 sperm ejaculation
GO:0043084 penile erection
GO:0045648 positive regulation of erythrocyte differentiation
GO:0045669 positive regulation of osteoblast differentiation
GO:0048706 embryonic skeletal system development
GO:0050999 regulation of nitric-oxide synthase activity
GO:0060011 Sertoli cell proliferation
GO:0071773 cellular response to BMP stimulus
Cellular Component
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0034673 inhibin-betaglycan-ActRII complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Signaling by Activin pathway
Signaling by BMP pathway
Regulation of signaling by NODAL pathway
Signaling by NODAL pathway
Developmental Biology pathway
Signal Transduction pathway
KEGG
TGF-beta signaling pathway pathway
Cytokine-cytokine receptor interaction pathway
INOH
IL-7 signaling pathway
JAK STAT pathway and regulation pathway
EPO signaling pathway pathway
VEGF signaling pathway pathway
TGF-beta signaling pathway
BMP2 signaling pathway
PID NCI
ALK1 signaling events
Cross-References
SwissProt P27037
TrEMBL
UniProt Splice Variant
Entrez Gene 92
UniGene Hs.470174 Hs.594664 Hs.608447
RefSeq NM_001278579 NM_001278580 NM_001616 XM_005263843
HUGO HGNC:173
OMIM 102581
CCDS CCDS33301 CCDS63030
HPRD
IMGT
EMBL AC009480 AK301629 AK314124 BC067417 BC067418 BC069707 CH471058 D31770 M93415 X62381 X63128
GenPept AAA35504 AAH67417 AAH67418 AAH69707 AAX93050 BAA06548 BAG36815 BAG63114 CAA44245 CAA44839 EAX11561 EAX11562
RNA Seq Atlas 92