Contents

ACVR2A

Protein-coding gene in the species Homo sapiens

ACVR2A
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3Q4T, 3SOC, 4ASX
Identifiers
Aliases	ACVR2A, ACTRII, ACVR2, activin A receptor type 2A
External IDs	OMIM: 102581; MGI: 102806; HomoloGene: 20391; GeneCards: ACVR2A; OMA:ACVR2A - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q22.3-q23.1 Start 147,844,517 bp[1] End 147,930,826 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 C1.1|2 28.38 cM Start 48,704,121 bp[2] End 48,793,281 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in buccal mucosa cell hair follicle oocyte skin of thigh testicle skin of abdomen lactiferous duct ganglionic eminence tendon Achilles tendon Top expressed in trigeminal ganglion olfactory tubercle subiculum anterior amygdaloid area medial ganglionic eminence epithelium of lens triceps brachii muscle tail of embryo genital tubercle nucleus accumbens More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity nucleotide binding protein kinase activity PDZ domain binding growth factor binding coreceptor activity activin binding metal ion binding kinase activity protein self-association protein serine/threonine kinase activity transmembrane receptor protein serine/threonine kinase activity inhibin binding protein binding activin-activated receptor activity ATP binding BMP receptor activity transforming growth factor beta-activated receptor activity transforming growth factor beta receptor activity, type II type I transforming growth factor beta receptor binding SMAD binding Cellular component cytoplasm integral component of membrane inhibin-betaglycan-ActRII complex membrane receptor complex plasma membrane integral component of plasma membrane cell surface activin receptor complex Biological process positive regulation of protein phosphorylation male gonad development ejaculation positive regulation of erythrocyte differentiation positive regulation of bone mineralization phosphorylation positive regulation of pathway-restricted SMAD protein phosphorylation gastrulation with mouth forming second penile erection regulation of nitric-oxide synthase activity cellular response to BMP stimulus Sertoli cell proliferation BMP signaling pathway embryonic skeletal system development regulation of BMP signaling pathway protein phosphorylation determination of left/right symmetry transmembrane receptor protein serine/threonine kinase signaling pathway positive regulation of activin receptor signaling pathway positive regulation of osteoblast differentiation regulation of signal transduction spermatogenesis mesoderm development anterior/posterior pattern specification positive regulation of transcription by RNA polymerase II activin receptor signaling pathway transforming growth factor beta receptor signaling pathway pattern specification process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 92 11480 Ensembl ENSG00000121989 ENSMUSG00000052155 UniProt P27037 P27038 RefSeq (mRNA) NM_001278579 NM_001278580 NM_001616 NM_007396 RefSeq (protein) NP_001265508 NP_001265509 NP_001607 NP_031422 Location (UCSC) Chr 2: 147.84 – 147.93 Mb Chr 2: 48.7 – 48.79 Mb PubMed search [3] [4]
Wikidata
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Activin receptor type-2A is a protein that in humans is encoded by the ACVR2A gene.^[5][6][7] ACVR2A is an activin type 2 receptor.

Function[edit]

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.^[7]

Interactions[edit]

ACVR2A has been shown to interact with:

• ACVR1B,^[8][9]
• INHBA,^[10][11] and
• SYNJ2BP.^[12][13]

References[edit]

External links[edit]

• Human ACVR2A genome location and ACVR2A gene details page in the UCSC Genome Browser.

Further reading[edit]