ACVR1B Chromosome 12
Activin A receptor type 1B
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What This Gene Does
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.[provided by RefSeq, Jun 2010]
Gene Info
Gene Group
Type 1 receptor serine/threonine kinases
Locus Type
gene with protein product
Location
12q13.13
Ensembl
ENSG00000135503
Associated Conditions (2)
Carcinoma of pancreas
Dextro-looped transposition of the great arteries
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555162597 | Health Risk | Pathogenic | Carcinoma of pancreas, Carcinoma of pancreas |
| RS2120691810 | Health Risk | Pathogenic | Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries |
| RS387906389 | Health Risk | Pathogenic | Carcinoma of pancreas, Carcinoma of pancreas |