ACVR1B

Chr 12

activin A receptor type 1B

Also known as: ACTRIB, ACVRLK4, ALK4, SKR2

NCBI Gene: 91 ENSG00000135503 UniProt: P36896 OMIM: 601300

This gene encodes a transmembrane serine/threonine kinase that functions as an activin type I receptor, transducing activin signals through SMAD-mediated pathways to regulate neuronal differentiation and survival, along with multiple other developmental processes. The gene is highly constrained against loss-of-function variants (pLI 1.0, LOEUF 0.17), but currently has only somatic cancer associations in OMIM rather than established germline developmental disorders. Activin signaling is critical for nervous system development, suggesting potential for neurodevelopmental phenotypes from germline mutations.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Pancreatic cancer, somaticMIM #260350

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.17

LOEUF· LoF intol.

LOF

Mechanism· predicted