SIPA1L2

Chr 1

signal induced proliferation associated 1 like 2

Also known as: SPAL2, SPAR2

NCBI Gene: 57568 ENSG00000116991 UniProt: Q9P2F8 OMIM: 611609

This gene encodes a GTPase-activating protein that regulates the small GTPase Rap through its GTPase activating domain, PDZ domain, and C-terminal coiled-coil domain with leucine zipper. Mutations cause neurodevelopmental disorders with intellectual disability and autism spectrum features, following an autosomal dominant inheritance pattern. The gene is highly constrained against loss-of-function variants (pLI 0.99, LOEUF 0.29), indicating intolerance to protein-disrupting mutations.

OMIM ResearchSummary from RefSeq

This gene encodes a member of the signal-induced proliferation-associated 1 like family. Members of this family contain a GTPase activating domain, a PDZ domain and a C-terminal coiled-coil domain with a leucine zipper. A similar protein in rat acts as a GTPases for the small GTPase Rap. [provided by RefSeq, Sep 2015]

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

0.29

LOEUF· LoF intol.

LOF

Mechanism· predicted