GAGE2E

Summary

GAGE2E (G antigen 2E, HGNC:31960) is a protein-coding gene on chromosome Xp11.23, encoding G antigen 2E (Q4V326).

At a glance

• Clinical variants (ClinVar): 1 total — 1 pathogenic

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31960
Approved symbol	GAGE2E
Name	G antigen 2E
Location	Xp11.23
Locus type	gene with protein product
Status	Approved
Aliases	GAGE8
Ensembl gene	ENSG00000275113
Ensembl biotype	protein_coding
OMIM	300736
Entrez	26749

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000621907

RefSeq mRNA: 1 — MANE Select: None NM_001127345

Canonical transcript exons

ENST00000621907 — 4 exons

Exon	Start	End
ENSE00003737439	49342853	49342973
ENSE00003738927	49345797	49345922
ENSE00003744676	49341192	49341255
ENSE00003746477	49342296	49342387

Expression profiles

Bgee: expression breadth ubiquitous, 107 present calls, max score 90.19.

Top tissues by expression

134 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	90.19	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.12	gold quality
sural nerve	UBERON:0015488	57.36	silver quality
lower esophagus mucosa	UBERON:0035834	51.15	gold quality
right coronary artery	UBERON:0001625	46.88	gold quality
left coronary artery	UBERON:0001626	41.50	gold quality
bone marrow cell	CL:0002092	41.29	gold quality
gastrocnemius	UBERON:0001388	40.98	gold quality
primary visual cortex	UBERON:0002436	39.61	gold quality
urinary bladder	UBERON:0001255	39.42	gold quality
muscle of leg	UBERON:0001383	39.14	gold quality
heart left ventricle	UBERON:0002084	37.90	gold quality
testis	UBERON:0000473	37.89	gold quality
ascending aorta	UBERON:0001496	37.80	gold quality
ectocervix	UBERON:0012249	37.64	gold quality
right ovary	UBERON:0002118	37.32	gold quality
thoracic aorta	UBERON:0001515	37.30	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
tibial artery	UBERON:0007610	37.12	gold quality
popliteal artery	UBERON:0002250	37.09	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
right lobe of liver	UBERON:0001114	36.47	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
liver	UBERON:0002107	36.28	gold quality
skeletal muscle tissue	UBERON:0001134	36.18	gold quality
body of pancreas	UBERON:0001150	36.12	gold quality
lower esophagus	UBERON:0013473	35.90	gold quality
lower esophagus muscularis layer	UBERON:0035833	35.67	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
monocyte	CL:0000576	35.44	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.97

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), GAGE12E (ENSG00000216649), GAGE12J (ENSG00000224659), GAGE12H (ENSG00000224902), GAGE12D (ENSG00000227488), PAGE2 (ENSG00000234068), GAGE12F (ENSG00000236362), GAGE12C (ENSG00000237671), PAGE2B (ENSG00000238269), GAGE13 (ENSG00000274274)

Protein

Protein identifiers

G antigen 2E — Q4V326 (reviewed: Q4V326)

All UniProt accessions (1): Q4V326

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_001120817 (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008625	GAGE_fam	Family
IPR031320	GAGE	Domain

Pfam: PF05831

UniProt features (6 total): compositionally biased region 2, sequence conflict 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q4V326-F1	63.47	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 2 (showing top): ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, chrXp11

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

3 interactions, top by confidence:

A	B	Type	Score
GAGE2E	PPIB	psi-mi:“MI:0915”(physical association)	0.400
GAGE2E	WDR46	psi-mi:“MI:0914”(association)	0.350

BioGRID (39): GMCL1 (Two-hybrid), GMCL1P1 (Two-hybrid), GMCL1P1 (Two-hybrid), GMCL1P1 (Affinity Capture-Western), GAGE2E (Positive Genetic), GAGE2E (Two-hybrid), GAGE2E (Two-hybrid), GAGE2E (Two-hybrid), EXOC3L2 (Two-hybrid), GAGE2E (Proximity Label-MS), ZC3H13 (Affinity Capture-MS), ESF1 (Affinity Capture-MS), DIDO1 (Affinity Capture-MS), GTF2F2 (Affinity Capture-MS), GMCL1 (Affinity Capture-MS)

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	1
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
992647	GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1	Pathogenic

SpliceAI

544 predictions. Top by Δscore:

Variant	Effect	Δscore
X:49342294:A:AG	acceptor_gain	1.0000
X:49342295:G:GA	acceptor_gain	1.0000
X:49342295:G:GG	acceptor_gain	1.0000
X:49342295:GT:G	acceptor_gain	1.0000
X:49342384:GCGG:G	donor_gain	1.0000
X:49342385:CGGG:C	donor_loss	1.0000
X:49342386:GG:G	donor_gain	1.0000
X:49342387:GG:G	donor_gain	1.0000
X:49342388:G:GG	donor_gain	1.0000
X:49342388:GTG:G	donor_loss	1.0000
X:49342389:T:A	donor_loss	1.0000
X:49342829:T:A	acceptor_gain	1.0000
X:49342832:A:AG	acceptor_gain	1.0000
X:49342833:C:G	acceptor_gain	1.0000
X:49342834:A:AG	acceptor_gain	1.0000
X:49342835:C:G	acceptor_gain	1.0000
X:49342838:A:AG	acceptor_gain	1.0000
X:49342838:ACAC:A	acceptor_gain	1.0000
X:49342839:C:G	acceptor_gain	1.0000
X:49342840:A:AG	acceptor_gain	1.0000
X:49342840:AC:A	acceptor_gain	1.0000
X:49342841:C:CA	acceptor_gain	1.0000
X:49342841:C:G	acceptor_gain	1.0000
X:49342844:A:AG	acceptor_gain	1.0000
X:49342845:T:G	acceptor_gain	1.0000
X:49342851:A:AG	acceptor_gain	1.0000
X:49342852:G:GG	acceptor_gain	1.0000
X:49342940:G:GT	donor_gain	1.0000
X:49342955:G:GT	donor_gain	1.0000
X:49342986:G:T	donor_gain	1.0000

AlphaMissense

712 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:49342862:T:C	F32L	0.816
X:49342864:C:A	F32L	0.816
X:49342864:C:G	F32L	0.816
X:49342312:G:C	W3C	0.726
X:49342312:G:T	W3C	0.726
X:49342310:T:A	W3R	0.678
X:49342310:T:C	W3R	0.678
X:49342321:A:C	R6S	0.657
X:49342321:A:T	R6S	0.657
X:49342311:G:T	W3L	0.649
X:49342316:G:A	G5R	0.644
X:49342316:G:C	G5R	0.644
X:49342307:A:C	S2R	0.569
X:49342309:T:A	S2R	0.569
X:49342309:T:G	S2R	0.569

Disease associations

OMIM: gene MIM:300736 | 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

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
Benzo(a)pyrene	decreases methylation	1
Methapyrilene	increases methylation	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

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