GAGE2E

Chr X

G antigen 2E

Also known as: GAGE-2E, GAGE8

NCBI Gene: 26749ENSG00000275113UniProt: Q4V326OMIM: 300736

I cannot provide a clinical gene summary for GAGE2E as no functional or clinical information has been provided in the data. Without details about the protein function, associated diseases, inheritance patterns, or clinical phenotypes, it would be inappropriate to make any claims about this gene's clinical significance.

OMIMResearch
Multiplemechanism
Clinical Summary— GAGE2E
📋
ClinVar Variants
80 unique Pathogenic / Likely Pathogenic· 18 VUS of 100 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

DN
0.75top 25%
GOF
0.6639th %ile
LOF
0.11100th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

100 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic78
Likely Pathogenic2
VUS18
Likely Benign2
78
Pathogenic
2
Likely Pathogenic
18
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
78
0
78
Likely Pathogenic
0
0
2
0
2
VUS
0
12
6
0
18
Likely Benign
0
2
0
0
2
Benign
0
0
0
0
0
Total014860100

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

View in ClinVar →

Protein Context — Lollipop Plot

GAGE2E · 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
Predictive Biomarkers of Dicycloplatin Resistance or Susceptibility in Prostate Cancer
Liu M et al.·Front Genet
2021
Integrated Multi-Omic Analysis Reveals Immunosuppressive Phenotype Associated with Poor Outcomes in High-Grade Serous Ovarian Cancer
Keathley R et al.·Cancers (Basel)
2023
Case Report: Sequential Chemotherapy and Immunotherapy Produce Sustained Response in Osteosarcoma With High Tumor Mutational Burden
Zheng S et al.·Front Endocrinol (Lausanne)
2021Case report
Evaluation of the Response of HNSCC Cell Lines to gamma-Rays and 12C Ions: Can Radioresistant Tumors Be Identified and Selected for 12C Ion Radiotherapy?
Ding L et al.·Front Oncol
2022
The unique C- and N-terminal sequences of Metallothionein isoform 3 mediate growth inhibition and Vectorial active transport in MCF-7 cells
Voels B et al.·BMC Cancer
2017
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
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