ACVR2B Chromosome 3

Activin A receptor type 2B
5 variants 5 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
Type 2 receptor serine/threonine kinases
Locus Type
gene with protein product
Location
3p22.2
Ensembl
ENSG00000114739
Associated Conditions (4)
Heterotaxy
visceral
4
autosomal
Key Variants
All Variants (5)
RSID Category Clinical Significance Conditions
RS139385924 Health Risk Conflicting classifications of pathogenicity Heterotaxy, visceral, 4
RS146067304 Health Risk Conflicting classifications of pathogenicity Heterotaxy, visceral, 4
RS760196754 Health Risk Conflicting classifications of pathogenicity
RS1559655653 Health Risk Likely pathogenic Heterotaxy, visceral, 4
RS1710030273 Health Risk Likely pathogenic Heterotaxy, visceral, 4
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