RUSC2

Chr 9AR

RUN and SH3 domain containing 2

Also known as: Iporin, MRT61

NCBI Gene: 9853 ENSG00000198853 UniProt: Q8N2Y8 OMIM: 611053

The protein associates with the adapter-like complex 4 (AP-4) and interacts with Rab1b and GM130, functioning in vesicular trafficking at the trans-Golgi network. Mutations cause autosomal recessive intellectual developmental disorder. This gene is highly constrained against loss-of-function variants (pLI 0.999, LOEUF 0.253).

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a RUN and SH3 domain containing protein that interacts with Rab1b and Rab1-binding protein GM130. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jun 2012]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Intellectual developmental disorder, autosomal recessive 61MIM #617773

Clinical highlights

Gene-disease validity (ClinGen)

intellectual disability, autosomal recessive 61 · ARModerateconsider for supplementary testing

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

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P/LP missense

0.25

LOEUF· LoF intol.

LOF

Mechanism· predicted