GAGE12I

Summary

GAGE12I (G antigen 12I, HGNC:4105) is a protein-coding gene on chromosome Xp11.23 not on reference assembly, encoding G antigen 12I (P0CL82).

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 YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes.

Source: NCBI Gene 26748 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 12 total

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4105
Approved symbol	GAGE12I
Name	G antigen 12I
Location	Xp11.23 not on reference assembly
Locus type	gene with protein product
Status	Approved
Aliases	OTTHUMG00000067390
OMIM	300637
Entrez	26748

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 2)

• The metazoan transcriptional regulator, Germ cell-less (GCL), as an interaction partner of GAGE12I. (PMID:23029259)
• GAGE7B significantly promotes gastric cancer progression by upregulating the p38delta/pMAPKAPK2/pHSP27 pathway, but it is negatively regulated by miR-30c. (PMID:30871606)

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

G antigen 12I — P0CL82 (reviewed: P0CL82)

All UniProt accessions (0):

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Forms tetramers.

Miscellaneous. This gene belongs to a multigene family expressed in a large variety of tumors whereas in normal tissues, expression is restricted to germ cells. These genes organized in clustered repeats, 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-P0CL82-F1	63.17	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

7 interactions, top by confidence:

A	B	Type	Score
FLJ13057	GAGE12I	psi-mi:“MI:0915”(physical association)	0.560
GMCL2	GAGE12I	psi-mi:“MI:0915”(physical association)	0.560
GAGE12I	FLJ13057	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (13): GMCL1 (Two-hybrid), GMCL1P1 (Two-hybrid), GAGE7 (Positive Genetic), GAGE12I (Positive Genetic), GAGE12G (Positive Genetic), GAGE12F (Positive Genetic), GAGE12G (Two-hybrid), GAGE12G (Two-hybrid), GAGE12G (Two-hybrid), EXOC3L2 (Two-hybrid), GAGE12G (Affinity Capture-MS), GMCL1 (Two-hybrid), GMCL1 (Affinity Capture-Luminescence)

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	11
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

Disease associations

OMIM: gene MIM:300637 | 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)

CTD chemical–gene interactions

1 total (human), top 1 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cadmium	decreases expression	1

Clinical trials (associated diseases)

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