GET4

Chr 7

guided entry of tail-anchored proteins factor 4

Also known as: C7orf20, CDG2Y, CEE, CGI-20, TRC35

NCBI Gene: 51608 ENSG00000239857 UniProt: Q7L5D6

The GET4 protein functions as part of the BAG6/BAT3 complex, a cytosolic protein quality control system that maintains misfolded proteins in a soluble state and facilitates proper delivery of tail-anchored proteins to the endoplasmic reticulum or directs them to the proteasome for degradation. Mutations cause congenital disorder of glycosylation type IIy, which follows autosomal recessive inheritance. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.502), suggesting some tolerance to protein-truncating mutations.

ResearchSummary from RefSeq, OMIM, UniProt

Enables protein carrier activity and protein-folding chaperone binding activity. Involved in several processes, including post-translational protein targeting to endoplasmic reticulum membrane; protein catabolic process; and tail-anchored membrane protein insertion into ER membrane. Located in cytosol. Part of BAT3 complex. Implicated in congenital disorder of glycosylation type IIy. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCongenital disorder of glycosylation 2Y

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

0.50

LOEUF

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429