GAGE2C

Summary

GAGE2C (G antigen 2C, HGNC:31958) is a protein-coding gene on chromosome Xp11.23 not on reference assembly, encoding G antigen 2B/2C (Q13066). Antigen, recognized on melanoma by autologous cytolytic T-lymphocytes.

This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YRPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes.

Source: NCBI Gene 2574 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 2 total

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31958
Approved symbol	GAGE2C
Name	G antigen 2C
Location	Xp11.23 not on reference assembly
Locus type	gene with protein product
Status	Approved
OMIM	300595
Entrez	2574

Gene structure

Transcript identifiers

Ensembl transcripts: 0

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

None — 0 exons

Expression profiles

Top tissues by expression

0 total, by Bgee expression score (0-100, higher = more expressed):

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• Data show that EZH2 is a crucial regulator of GAGE2 expression. (PMID:19934278)

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

G antigen 2B/2C — Q13066 (reviewed: Q13066)

Alternative names: Cancer/testis antigen 4.2, G antigen 2C

All UniProt accessions (0):

UniProt curated annotations — full annotation on UniProt →

Function. Antigen, recognized on melanoma by autologous cytolytic T-lymphocytes.

Tissue specificity. Expressed in a variety of tumor tissues but not in normal tissues, except testis.

Miscellaneous. This gene belongs to a family of genes organized in clustered repeats. They have a high degree of predicted sequence identity, but differ by scattered single nucleotide substitution. Their sequences contain either the antigenic peptide YYWPRPRRY or YRPRPRRY which is recognized by cytotoxic T-cells.

Similarity. Belongs to the GAGE family.

RefSeq proteins (0): (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008625	GAGE_fam	Family
IPR031320	GAGE	Domain

Pfam: PF05831

UniProt features (5 total): compositionally biased region 3, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13066-F1	65.80	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

10 interactions, top by confidence:

A	B	Type	Score
GAGE2B	GMCL1	psi-mi:“MI:0915”(physical association)	0.560
GAGE2B	GNMT	psi-mi:“MI:0915”(physical association)	0.560
GAGE2B	GMCL1	psi-mi:“MI:0915”(physical association)	0.000
GMCL1	GAGE2B	psi-mi:“MI:0915”(physical association)	0.000
GNMT	GAGE2B	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (3): GAGE2C (Positive Genetic), GAGE2B (Positive Genetic), GAGE2C (Two-hybrid)

ESM2 similar proteins: A0A0U1RQG5, A1L429, A6NDE8, A6NER3, A6NGK3, E1AZ71, O08664, O60829, O75459, O76087, P0C2W7, P0CL80, P0CL81, P0CL82, P0DSO3, P0DTW1, P52651, P62521, P86478, P86479, P86480, P86481, P86496, Q13066, Q13069, Q13070, Q17QW4, Q28181, Q2T9P9, Q32PA2, Q4V321, Q4V326, Q5JQC4, Q5U2Y8, Q62100, Q63803, Q64256, Q6NT46, Q6X7S9, Q7Z2X7

Diamond homologs: A1L429, A6NDE8, A6NER3, A6NGK3, O75459, O76087, P0CL80, P0CL81, P0CL82, P0DSO3, P0DTW1, Q13066, Q13069, Q13070, Q4V321, Q4V326, Q6NT46, Q8WTP9, Q96GT9, Q9UEU5, Q8WWM1, Q5JUK9, Q5JRK9, Q7Z2X7, Q9HD64

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

2 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	2
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

Disease associations

OMIM: gene MIM:300595 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.