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GAGE2D

Chr X

G antigen 2D

Also known as: CT4.8, GAGE-2D, GAGE-8, GAGE8

The GAGE2D protein is a member of the GAGE (G antigen) family, which are normally expressed in germ cells and some cancers but have limited known function in typical somatic tissues. Currently, no definitive disease associations have been established for GAGE2D mutations in pediatric or adult populations. The gene shows relatively low constraint against loss-of-function variants, suggesting that complete loss may be tolerated.

LOEUF 1.61
Clinical SummaryGAGE2D
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.00) despite low pLI — interpret in context.
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.61LOEUF
pLI 0.434
Z-score 1.08
OE 0.00 (0.001.61)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.15Z-score
OE missense 0.86 (0.501.53)
8 obs / 9.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.00 (0.001.61)
00.351.4
Missense OE0.86 (0.501.53)
00.61.4
Synonymous OE2.65
01.21.6
LoF obs/exp: 0 / 1.4Missense obs/exp: 8 / 9.3Syn Z: -1.95

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

GAGE2D · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
Open Research Assistant →
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found