SRGAP1

Chr 12

SLIT-ROBO Rho GTPase activating protein 1

Also known as: ARHGAP13, NMTC2

NCBI Gene: 57522 ENSG00000196935 UniProt: Q7Z6B7

SRGAP1 encodes a GTPase-activating protein that inactivates CDC42 and RhoA small GTPases and regulates neuronal migration through interaction with ROBO1 in response to SLIT signaling. Mutations cause nonmedullary thyroid cancer type 2 with autosomal dominant inheritance, though somatic mutations also occur. The gene is highly constrained against loss-of-function variants (pLI 0.998, LOEUF 0.267), suggesting intolerance to protein loss.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a GTPase activator, working with the GTPase CDC42 to negatively regulate neuronal migration. The encoded protein interacts with the transmembrane receptor ROBO1 to inactivate CDC42. [provided by RefSeq, Sep 2016]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtThyroid cancer, non-medullary, 2

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

0.27

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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