GDI2

Chr 10

GDP dissociation inhibitor 2

Also known as: HEL-S-46e, RABGDIB

NCBI Gene: 2665 ENSG00000057608 UniProt: P50395 OMIM: 600767

GDP dissociation inhibitor 2 regulates intracellular membrane trafficking by preventing GDP to GTP exchange of Rab proteins and negatively regulates protein transport to cilia through RAB8A inhibition. Mutations cause X-linked intellectual disability, often with additional features that may include autism spectrum disorder, seizures, and developmental delays. This gene shows high constraint against loss-of-function variants (pLI 0.85, LOEUF 0.38), indicating that such mutations are likely pathogenic.

OMIM ResearchSummary from RefSeq, UniProt

GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI2 is ubiquitously expressed. The GDI2 gene contains many repetitive elements indicating that it may be prone to inversion/deletion rearrangements. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

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)

—

P/LP submissions

—

P/LP missense

0.38

LOEUF

—

Mechanism