SGSM3

Chr 22

small G protein signaling modulator 3

Also known as: CIP85, MAP, MRT84, RABGAP5, RUSC3, RUTBC3, RabGAP-5, rabGAPLP

NCBI Gene: 27352 ENSG00000100359 UniProt: Q96HU1

The SGSM3 protein functions as a GTPase-activating protein that accelerates GTP hydrolysis by Rab5, thereby controlling trafficking through the early endocytic pathway. Mutations in SGSM3 cause neurodevelopmental disorders with intellectual disability, typically following an autosomal recessive inheritance pattern. The gene shows minimal constraint against loss-of-function variants, which is consistent with recessive disease manifestation.

ResearchSummary from RefSeq, UniProt

Enables GTPase activator activity and small GTPase binding activity. Involved in several processes, including Rap protein signal transduction; positive regulation of GTPase activity; and regulation of Rab protein signal transduction. Located in Golgi apparatus and cytosol. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder, autosomal recessive 84

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.90

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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