GID4

Chr 17

GID complex subunit 4 homolog

Also known as: C17orf39, VID2, VID24

NCBI Gene: 79018 ENSG00000141034 UniProt: Q8IVV7

The protein functions as a substrate-recognition subunit of the CTLH E3 ubiquitin-protein ligase complex, mediating ubiquitination and proteasomal degradation of specific proteins including the transcription factor HBP1. Mutations cause autosomal recessive neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy. The gene is highly constrained against loss-of-function variants, indicating that functional copies are critical for normal development.

ResearchSummary from RefSeq, UniProt

The multiprotein Mediator complex is a coactivator required for activation of RNA polymerase II transcription by DNA bound transcription factors. The protein encoded by this gene is thought to be a subunit of the Mediator complex. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]

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

0.38

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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