GAGE12B

Summary

GAGE12B (G antigen 12B, HGNC:26779) is a protein-coding gene on chromosome Xp11.23, encoding G antigen 12B/C/D/E (A1L429).

At a glance

• Clinical variants (ClinVar): 1 total

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26779
Approved symbol	GAGE12B
Name	G antigen 12B
Location	Xp11.23
Locus type	gene with protein product
Status	Approved
Aliases	OTTHUMG00000024142
Ensembl gene	ENSG00000236737
Ensembl biotype	protein_coding
Entrez	729428

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000361446

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000361446 — 1 exons

Exon	Start	End
ENSE00001715199	49529869	49529985

Expression profiles

Bgee: expression breadth broad, 99 present calls, max score 86.11.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.11	gold quality
right coronary artery	UBERON:0001625	58.46	gold quality
left uterine tube	UBERON:0001303	41.57	gold quality
urinary bladder	UBERON:0001255	40.55	gold quality
duodenum	UBERON:0002114	39.65	gold quality
descending thoracic aorta	UBERON:0002345	38.26	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
left ovary	UBERON:0002119	35.48	gold quality
right adrenal gland cortex	UBERON:0035827	35.33	gold quality
right lobe of liver	UBERON:0001114	34.25	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
putamen	UBERON:0001874	33.35	gold quality
liver	UBERON:0002107	32.64	gold quality
ovary	UBERON:0000992	32.58	gold quality
lower esophagus muscularis layer	UBERON:0035833	32.43	gold quality
metanephros cortex	UBERON:0010533	32.40	gold quality
lower esophagus	UBERON:0013473	32.25	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
endocervix	UBERON:0000458	32.01	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
tibial artery	UBERON:0007610	31.52	gold quality
fallopian tube	UBERON:0003889	31.47	gold quality
substantia nigra	UBERON:0002038	31.44	gold quality
popliteal artery	UBERON:0002250	31.40	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• GAGE mediates radio resistance in cervical cancers via the regulation of chromatin accessibility. (PMID:34469741)

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

G antigen 12B/C/D/E — A1L429 (reviewed: A1L429)

All UniProt accessions (1): A0A1Y8ELK0

UniProt curated annotations — full annotation on UniProt →

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-A1L429-F1	63.26	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 1 (showing top): chrXp11

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

1205 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GAGE12B	SEL1L2	Q5TEA6	474
GAGE12B	CT45A10	P0DMU9	398
GAGE12B	PNLIPRP3	Q17RR3	393
GAGE12B	FAM180B	Q6P0A1	391
GAGE12B	CT45A5	P0DMU8	390
GAGE12B	FAM168B	A1KXE4	380
GAGE12B	C9J5N1	C9J5N1	371
GAGE12B	AARSD1	Q9BTE6	370
GAGE12B	PLGLB1	Q02325	368
GAGE12B	IQCF2	Q8IXL9	357
GAGE12B	FAM168A	Q92567	353
GAGE12B	CYYR1	Q96J86	348
GAGE12B	SPANXB1	Q9NS25	322
GAGE12B	ADGRG4	Q8IZF6	311
GAGE12B	XAGE1B	Q9HD64	290

IntAct

7 interactions, top by confidence:

A	B	Type	Score
GAGE12B	FLJ13057	psi-mi:“MI:0915”(physical association)	0.560
GAGE12B	GMCL2	psi-mi:“MI:0915”(physical association)	0.560
FLJ13057	GAGE12B	psi-mi:“MI:0915”(physical association)	0.560
GMCL2	GAGE12B	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (6): GAGE12B (Two-hybrid), GAGE12B (Two-hybrid), GAGE12C (Positive Genetic), GAGE12B (Positive Genetic), GAGE12D (Positive Genetic), GAGE12E (Positive Genetic)

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

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

10 predictions. Top by Δscore:

Variant	Effect	Δscore
X:49529872:A:G	acceptor_gain	0.3600
X:49529933:A:T	donor_gain	0.2800
X:49529895:A:T	acceptor_loss	0.2500
X:49529932:G:GT	donor_gain	0.2500
X:49529959:TAAAG:T	acceptor_gain	0.2400
X:49529960:AAAG:A	acceptor_gain	0.2300
X:49529917:GC:G	donor_gain	0.2200
X:49529963:G:T	acceptor_gain	0.2200
X:49529927:T:G	donor_gain	0.2100
X:49529961:AAGC:A	acceptor_gain	0.2100

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS112925514 (X:49347198 T>C), RS1156772156 (X:49346385 G>A), RS1157658445 (X:49344808 G>A,C,T), RS1157779697 (X:49339963 G>T), RS1157946584 (X:49341811 C>G), RS1159209115 (X:49342413 G>A), RS1159411142 (X:49343681 G>A), RS1159737756 (X:49340068 T>G), RS1160385500 (X:49342792 T>A), RS1160454948 (X:49344959 T>G), RS1160794565 (X:49340416 A>G), RS1161526004 (X:49343945 C>G,T), RS1161549977 (X:49341113 C>T), RS1161972556 (X:49339337 C>G), RS1162369180 (X:49347081 G>A)

Disease associations

OMIM: gene `` | 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

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Resveratrol	affects cotreatment, decreases expression	1
Cadmium	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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