RAB31

Chr 18

RAB31, member RAS oncogene family

Also known as: Rab22B

NCBI Gene: 11031 ENSG00000168461 UniProt: Q13636

RAB31 encodes a small GTPase that regulates intracellular membrane trafficking, including transport between the Golgi apparatus, trans-Golgi network, and endosomes, as well as insulin-stimulated glucose transporter translocation and receptor internalization. Mutations in RAB31 cause autosomal recessive intellectual developmental disorder with microcephaly, seizures, and limb malformations. The gene shows tolerance to loss-of-function variants (pLI 0.001), consistent with the recessive inheritance pattern observed in affected individuals.

ResearchSummary from RefSeq, UniProt

Enables GDP binding activity; GTP binding activity; and GTPase activity. Involved in several processes, including Golgi to plasma membrane protein transport; cellular response to insulin stimulus; and receptor internalization. Located in early endosome; phagocytic vesicle; and trans-Golgi network membrane. Biomarker of severe acute respiratory syndrome. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.12

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)