GAGE12E

Summary

GAGE12E (G antigen 12E, HGNC:31905) is a protein-coding gene on chromosome Xp11.23, encoding G antigen 12B/C/D/E (A1L429).

At a glance

• Clinical variants (ClinVar): 8 total
• MANE Select transcript: NM_001098418

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31905
Approved symbol	GAGE12E
Name	G antigen 12E
Location	Xp11.23
Locus type	gene with protein product
Status	Approved
Aliases	OTTHUMG00000024146
Ensembl gene	ENSG00000216649
Ensembl biotype	protein_coding
OMIM	300729
Entrez	729431

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000381698

RefSeq mRNA: 1 — MANE Select: NM_001098418 NM_001098418

CCDS: CCDS43945

Canonical transcript exons

ENST00000381698 — 5 exons

Exon	Start	End
ENSE00001666356	49551289	49551396
ENSE00001689698	49555936	49556061
ENSE00001693434	49552993	49553113
ENSE00001720450	49552436	49552527
ENSE00001739511	49558533	49558645

Expression profiles

Bgee: expression breadth broad, 76 present calls, max score 86.14.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.14	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	80.17	gold quality
cortical plate	UBERON:0005343	41.71	gold quality
granulocyte	CL:0000094	41.39	silver quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	35.23	gold quality
muscle tissue	UBERON:0002385	34.62	silver quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
liver	UBERON:0002107	30.36	silver quality
prefrontal cortex	UBERON:0000451	30.02	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
blood	UBERON:0000178	29.77	gold quality
leukocyte	CL:0000738	29.35	gold quality
monocyte	CL:0000576	28.73	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	28.15	gold quality
duodenum	UBERON:0002114	28.14	gold quality
muscle of leg	UBERON:0001383	27.92	gold quality
islet of Langerhans	UBERON:0000006	27.62	silver quality
lymph node	UBERON:0000029	27.57	gold quality
right lobe of liver	UBERON:0001114	27.54	gold quality
gastrocnemius	UBERON:0001388	27.38	gold quality
tonsil	UBERON:0002372	27.05	gold quality
kidney	UBERON:0002113	26.51	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
gall bladder	UBERON:0002110	25.98	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-CURD-53	yes	1311.63
E-MTAB-3929	yes	922.84
E-GEOD-134144	yes	719.17
E-MTAB-6524	yes	43.46
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (22): PAGE1 (ENSG00000068985), PAGE4 (ENSG00000101951), XAGE2 (ENSG00000155622), PAGE5 (ENSG00000158639), XAGE3 (ENSG00000171402), XAGE5 (ENSG00000171405), GAGE2A (ENSG00000189064), PAGE3 (ENSG00000204279), XAGE1A (ENSG00000204379), XAGE1B (ENSG00000204382), GAGE1 (ENSG00000205777), GAGE12G (ENSG00000215269), GAGE10 (ENSG00000215274), GAGE12J (ENSG00000224659), GAGE12H (ENSG00000224902), GAGE12D (ENSG00000227488), PAGE2 (ENSG00000234068), GAGE12F (ENSG00000236362), GAGE12C (ENSG00000237671), PAGE2B (ENSG00000238269), GAGE13 (ENSG00000274274), GAGE2E (ENSG00000275113)

Protein

Protein identifiers

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

All UniProt accessions (1): A1L429

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 (1): NP_001091888* (*=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 (1): protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

1205 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GAGE12E	SEL1L2	Q5TEA6	474
GAGE12E	CT45A10	P0DMU9	398
GAGE12E	PNLIPRP3	Q17RR3	393
GAGE12E	FAM180B	Q6P0A1	391
GAGE12E	CT45A5	P0DMU8	390
GAGE12E	FAM168B	A1KXE4	380
GAGE12E	C9J5N1	C9J5N1	371
GAGE12E	AARSD1	Q9BTE6	370
GAGE12E	PLGLB1	Q02325	368
GAGE12E	IQCF2	Q8IXL9	357
GAGE12E	FAM168A	Q92567	353
GAGE12E	CYYR1	Q96J86	348
GAGE12E	SPANXB1	Q9NS25	322
GAGE12E	ADGRG4	Q8IZF6	311
GAGE12E	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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	6
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

661 predictions. Top by Δscore:

Variant	Effect	Δscore
X:49552434:A:AG	acceptor_gain	1.0000
X:49552435:G:GA	acceptor_gain	1.0000
X:49552435:GT:G	acceptor_gain	1.0000
X:49552435:GTGT:G	acceptor_gain	1.0000
X:49552524:GCGG:G	donor_gain	1.0000
X:49552525:CGGG:C	donor_loss	1.0000
X:49552526:GG:G	donor_gain	1.0000
X:49552526:GGGT:G	donor_loss	1.0000
X:49552527:GG:G	donor_gain	1.0000
X:49552528:G:GG	donor_gain	1.0000
X:49552529:T:A	donor_loss	1.0000
X:49552966:A:AG	acceptor_gain	1.0000
X:49552966:ATTT:A	acceptor_gain	1.0000
X:49552967:T:G	acceptor_gain	1.0000
X:49552969:T:A	acceptor_gain	1.0000
X:49552972:A:AG	acceptor_gain	1.0000
X:49552973:C:G	acceptor_gain	1.0000
X:49552974:A:AG	acceptor_gain	1.0000
X:49552975:C:G	acceptor_gain	1.0000
X:49552978:A:AG	acceptor_gain	1.0000
X:49552978:ACAC:A	acceptor_gain	1.0000
X:49552979:C:G	acceptor_gain	1.0000
X:49552980:A:AG	acceptor_gain	1.0000
X:49552980:AC:A	acceptor_gain	1.0000
X:49552981:C:CA	acceptor_gain	1.0000
X:49552981:C:G	acceptor_gain	1.0000
X:49552984:A:AG	acceptor_gain	1.0000
X:49552985:T:G	acceptor_gain	1.0000
X:49552988:CCCA:C	acceptor_loss	1.0000
X:49552989:CCAG:C	acceptor_loss	1.0000

AlphaMissense

765 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:49553002:T:C	F32L	0.851
X:49553004:C:A	F32L	0.851
X:49553004:C:G	F32L	0.851
X:49552452:G:C	W3C	0.722
X:49552452:G:T	W3C	0.722
X:49552450:T:A	W3R	0.679
X:49552450:T:C	W3R	0.679
X:49552461:A:C	R6S	0.655
X:49552461:A:T	R6S	0.655
X:49552451:G:T	W3L	0.643
X:49552456:G:A	G5R	0.643
X:49552456:G:C	G5R	0.643
X:49552447:A:C	S2R	0.577
X:49552449:T:A	S2R	0.577
X:49552449:T:G	S2R	0.577
X:49552457:G:A	G5E	0.569

dbSNP variants (sampled 300 via entrez): RS1064628 (X:49558562 A>G), RS113686575 (X:49551472 G>A), RS1156380167 (X:49549947 G>A,C), RS1158443204 (X:49557381 T>A), RS1162347300 (X:49553672 A>C,G), RS1165739713 (X:49557919 G>T), RS1170063604 (X:49557315 A>G), RS1174944345 (X:49557329 C>G,T), RS1179524619 (X:49557385 T>C), RS11798010 (X:49553056 T>A,C), RS1181130841 (X:49557330 T>C,G), RS1182627384 (X:49550190 G>A), RS1183762963 (X:49553736 G>A,T), RS1185590573 (X:49557521 T>C), RS1188824924 (X:49553766 A>C,T)

Disease associations

OMIM: gene MIM:300729 | 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.