WSB2

Chr 12

WD repeat and SOCS box containing 2

Also known as: LAGNS, SBA2

NCBI Gene: 55884 ENSG00000176871 UniProt: Q9NYS7

The protein functions as a substrate-recognition component of an E3 ubiquitin ligase complex that targets specific proteins for degradation through the ubiquitin-proteasome system. Mutations cause Luo-Agrawal neurodevelopmental syndrome, which follows an autosomal recessive inheritance pattern. The gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the WD-protein subfamily. The encoded protein contains five WD-repeats spanning most of the protein and an SOCS box in the C-terminus. The SOCS box may act as a bridge between specific substrate-binding domains and E3 ubiquitin protein ligases. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLuo-Agrawal neurodevelopmental syndrome

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)

—

P/LP submissions

—

P/LP missense

0.36

LOEUF

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429