SCRIB

Chr 8

scribble planar cell polarity protein

Also known as: CRIB1, SCRB1, SCRIB1, Vartul, oSCRIB

NCBI Gene: 23513 ENSG00000180900 UniProt: C0HLS1

The SCRIB protein functions as a scaffold protein involved in cell polarization processes and tumor suppression pathways, binding to multiple other proteins through its PDZ domain. Mutations cause autosomal dominant neural tube defects including spina bifida and anencephaly. This gene is highly constrained against loss-of-function variants (pLI = 0.93, LOEUF = 0.31), indicating that complete loss of function is likely not tolerated.

ResearchSummary from RefSeq, UniProt

This gene encodes a protein that was identified as being similar to the Drosophila scribble protein. The mammalian protein is involved in tumor suppression pathways. As a scaffold protein involved in cell polarization processes, this protein binds to many other proteins. The encoded protein binds to papillomavirus E6 protein via its PDZ domain and the C-terminus of E6. Two alternatively spliced transcript variants that encode different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.31

LOEUF· LoF intol.

LOF*

Mechanism· G2P

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