GET4

Chr 7AR

guided entry of tail-anchored proteins factor 4

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

NCBI Gene: 51608 ENSG00000239857 UniProt: Q7L5D6 OMIM: 612056

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.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Enables protein carrier chaperone and protein-folding chaperone binding activity. Involved in establishment of protein localization to membrane; maintenance of unfolded protein; and proteolysis involved in protein catabolic process. Located in chromosome; cytosol; and nuclear lumen. Part of BAT3 complex. Implicated in congenital disorder of glycosylation type IIy. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

ARLOEUF 0.501 OMIM phenotype

Clinical Summary— GET4

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.56) — some intolerance to loss-of-function variants.

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ClinVar Variants

64 VUS of 93 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.50LOEUF

pLI 0.562

Z-score 2.93

OE 0.19 (0.09–0.50)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

0.17Z-score

OE missense 0.97 (0.86–1.09)

184 obs / 190.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.19 (0.09–0.50)

0≤0.351.4

Missense OE?0.97 (0.86–1.09)

0≤0.61.4

Synonymous OE?1.66

0≤1.21.6

LoF obs/exp: 3 / 15.4Missense obs/exp: 184 / 190.5Syn Z: -4.86

ClinVar Variant Classifications

93 submitted variants in ClinVar

ClinVar

Classification Summary

VUS64

Likely Benign8

Benign5

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	64	0	0	64
Likely Benign	1	0	7	8
Benign	0	1	4	5
Total	65	1	11	77

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

40 pathogenic / likely-pathogenic (of 58) ClinVar copy-number / structural variants overlap GET4 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →