Gene: ACVR2B

Alternate names for this Gene: ACTRIIB|ActR-IIB|HTX4

Gene 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.

Gene is located in Chromosome: 3

Location in Chromosome : 3p22.2

Description of this Gene: activin A receptor type 2B

Type of Gene: protein-coding

rs11914389 in ACVR2B gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

PMID 30604766 2019 Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.

rs121434437 in ACVR2B gene and HETEROTAXY, VISCERAL, 4, AUTOSOMAL PMID 9916847 1999 Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB.