Gene: ACVR1B

Alternate names for this Gene: ACTRIB|ACVRLK4|ALK4|SKR2

Gene Summary: This gene encodes an activin A type IB 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 and two type II receptors. This protein is a type I receptor which is essential for signaling. Mutations in this gene are associated with pituitary tumors. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.13

Description of this Gene: activin A receptor type 1B

Type of Gene: protein-coding

rs11610143 in ACVR1B gene and Adenocarcinoma of lung (disorder) PMID 26732429 2016 Meta-analysis of genome-wide association studies identifies multiple lung cancer susceptibility loci in never-smoking Asian women.

rs111930700 in ACVR1B gene and Blood basophil count (lab test) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs11610143 in ACVR1B gene and Carcinoma of lung PMID 26732429 2016 Meta-analysis of genome-wide association studies identifies multiple lung cancer susceptibility loci in never-smoking Asian women.

rs111930700 in ACVR1B gene and Eosinophil count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs111930700 in ACVR1B gene and Granulocyte count PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs111930700 in ACVR1B gene and Neutrophil count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs2641530 in ACVR1B gene and response to bronchodilator PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.