GET4

Chr 7AR

guided entry of tail-anchored proteins factor 4

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

NCBI Gene: 51608ENSG00000239857UniProt: Q7L5D6

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]

Primary Disease Associations & Inheritance

?Congenital disorder of glycosylation, type IIyMIM #620200
AR
133
ClinVar variants
39
Pathogenic / LP
0.56
pLI score
0
Active trials
Clinical Summary— GET4
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.56) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
39 Pathogenic / Likely Pathogenic· 76 VUS of 133 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
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?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.17Z-score
OE missense 0.97 (0.86–1.09)
184 obs / 190.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.19 (0.09–0.50)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.97 (0.86–1.09)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.66
0≤1.21.6
LoF obs/exp: 3 / 15.4Missense obs/exp: 184 / 190.5Syn Z: -4.86

ClinVar Variant Classifications

133 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic38
Likely Pathogenic1
VUS76
Likely Benign7
Benign10
Conflicting1
38
Pathogenic
1
Likely Pathogenic
76
VUS
7
Likely Benign
10
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
38
0
38
Likely Pathogenic
0
0
1
0
1
VUS
0
64
12
0
76
Likely Benign
0
1
0
6
7
Benign
0
0
6
4
10
Conflicting
—1
Total0655710133

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

View in ClinVar →

Protein Context — Lollipop Plot

GET4 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

?Congenital disorder of glycosylation, type IIy

MIM #620200

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools