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GAGE2B

Chr X

G antigen 2B

Also known as: CT4.2, GAGE-2, GAGE-2B

NCBI Gene: 645037UniProt: Q13066OMIM: 300726

The GAGE2B protein functions as an antigen recognized by cytolytic T-lymphocytes in melanoma. This gene has low constraint against loss-of-function variants (pLI = 0.002, LOEUF = 1.95), and no definitive pediatric neurological phenotypes have been established for pathogenic variants in GAGE2B based on the available data.

OMIMResearchSummary from UniProt
LOEUF 1.95
Clinical Summary— GAGE2B
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
62 unique Pathogenic / Likely Pathogenic· 46 VUS of 112 total submissions
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.95LOEUF
pLI 0.002
Z-score -1.17
OE 2.04 (0.66–1.95)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.31Z-score
OE missense 1.24 (0.84–1.80)
16 obs / 12.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE2.04 (0.66–1.95)
0≤0.351.4
Missense OE1.24 (0.84–1.80)
0≤0.61.4
Synonymous OE1.24
0≤1.21.6
LoF obs/exp: 3 / 1.5Missense obs/exp: 16 / 12.9Syn Z: -0.38

ClinVar Variant Classifications

112 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic60
Likely Pathogenic2
VUS46
Likely Benign4
60
Pathogenic
2
Likely Pathogenic
46
VUS
4
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
60
0
60
Likely Pathogenic
0
0
2
0
2
VUS
0
41
5
0
46
Likely Benign
0
4
0
0
4
Benign
0
0
0
0
0
Total045670112

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

View in ClinVar →

Protein Context — Lollipop Plot

GAGE2B · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients