RASSF8

Chr 12

Ras association domain family member 8

Also known as: C12orf2, HOJ1

NCBI Gene: 11228 ENSG00000123094 UniProt: Q8NHQ8 OMIM: 608231

This gene encodes a tumor suppressor protein that maintains adherens junction function in epithelial cells and regulates epithelial cell migration. Chromosomal translocations involving RASSF8 cause complex synpolydactyly, a limb malformation disorder characterized by fusion of digits. The gene shows autosomal dominant inheritance and is highly constrained against loss-of-function variants.

OMIM ResearchSummary from RefSeq

This gene encodes a member of the Ras-assocation domain family (RASSF) of tumor suppressor proteins. This gene is essential for maintaining adherens junction function in epithelial cells and has a role in epithelial cell migration. It is a lung tumor suppressor gene candidate. A chromosomal translocation t(12;22)(p11.2;q13.3) leading to the fusion of this gene and the FBLN1 gene is found in a complex type of synpolydactyly. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]

OMIM ResearchGenerating clinical summary…

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

0.35

LOEUF· LoF intol.

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Mechanism