GAGE13

Summary

GAGE13 (G antigen 13, HGNC:29081) is a protein-coding gene on chromosome Xp11.23, encoding G antigen 13 (Q4V321).

At a glance

• Clinical variants (ClinVar): 32 total
• MANE Select transcript: NM_001098412

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29081
Approved symbol	GAGE13
Name	G antigen 13
Location	Xp11.23
Locus type	gene with protein product
Status	Approved
Aliases	OTTHUMG00000024138
Ensembl gene	ENSG00000274274
Ensembl biotype	protein_coding
OMIM	300734
Entrez	645051

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000612958, ENST00000932315

RefSeq mRNA: 1 — MANE Select: NM_001098412 NM_001098412

CCDS: CCDS48110

Canonical transcript exons

ENST00000612958 — 5 exons

Exon	Start	End
ENSE00003729866	49336247	49336372
ENSE00003731038	49331582	49331689
ENSE00003737371	49333287	49333407
ENSE00003751336	49338836	49338949
ENSE00003753082	49332730	49332821

Expression profiles

Bgee: expression breadth broad, 89 present calls, max score 95.74.

Top tissues by expression

124 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	95.74	gold quality
right testis	UBERON:0004534	94.24	gold quality
left testis	UBERON:0004533	93.26	gold quality
testis	UBERON:0000473	92.43	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.39	gold quality
sural nerve	UBERON:0015488	48.87	gold quality
mucosa of stomach	UBERON:0001199	41.15	silver quality
endocervix	UBERON:0000458	40.30	gold quality
mucosa of transverse colon	UBERON:0004991	40.02	silver quality
descending thoracic aorta	UBERON:0002345	37.44	silver quality
colonic epithelium	UBERON:0000397	37.20	gold quality
uterine cervix	UBERON:0000002	36.71	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
right uterine tube	UBERON:0001302	35.91	gold quality
urinary bladder	UBERON:0001255	35.53	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
ectocervix	UBERON:0012249	35.21	gold quality
right coronary artery	UBERON:0001625	34.96	gold quality
right lung	UBERON:0002167	34.68	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
gastrocnemius	UBERON:0001388	32.01	gold quality
muscle of leg	UBERON:0001383	31.88	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
liver	UBERON:0002107	31.34	silver quality
putamen	UBERON:0001874	31.16	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
blood	UBERON:0000178	30.69	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-GEOD-124263	yes	5295.47
E-GEOD-134144	yes	781.93
E-MTAB-6308	yes	442.71
E-MTAB-7249	yes	425.77
E-GEOD-81383	yes	410.82
E-CURD-53	no	1978.34
E-GEOD-99795	no	68.87
E-ANND-3	no	0.24

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), GAGE2E (ENSG00000275113)

Protein

Protein identifiers

G antigen 13 — Q4V321 (reviewed: Q4V321)

Alternative names: G antigen 12A

All UniProt accessions (1): Q4V321

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_001091882* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008625	GAGE_fam	Family
IPR031320	GAGE	Domain

Pfam: PF05831

UniProt features (8 total): compositionally biased region 3, sequence conflict 3, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q4V321-F1	62.52	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 4 (showing top): BECKER_TAMOXIFEN_RESISTANCE_UP, chrXp11, KAAB_FAILED_HEART_ATRIUM_UP, LEI_MYB_TARGETS

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

1129 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GAGE13	LHX3	Q9UBR4	372
GAGE13	EVC2	Q86UK5	290
GAGE13	FRMD4A	Q9P2Q2	290
GAGE13	RPP30	P78346	290
GAGE13	HEPACAM	Q14CZ8	288
GAGE13	CNNM2	Q9H8M5	271
GAGE13	AS3MT	Q9HBK9	271
GAGE13	FAU	P35544	209
GAGE13	HAVCR2	Q8TDQ0	200
GAGE13	RPL19	P14118	172
GAGE13	RPL15	P39030	172
GAGE13	RPL21	P46778	172
GAGE13	RPS6	P08227	172
GAGE13	RPL24	P38663	172
GAGE13	RPL31	P12947	172
GAGE13	UBB	P02248	172
GAGE13	RPS24	P16632	172
GAGE13	RPL37A	P12751	172
GAGE13	RPL18	Q07020	172

IntAct

0 interactions, top by confidence:

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	28
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

621 predictions. Top by Δscore:

Variant	Effect	Δscore
X:49332728:A:AG	acceptor_gain	1.0000
X:49332729:G:GA	acceptor_gain	1.0000
X:49332729:G:GT	acceptor_gain	1.0000
X:49332729:GT:G	acceptor_gain	1.0000
X:49332729:GTGT:G	acceptor_gain	1.0000
X:49332818:GCGG:G	donor_gain	1.0000
X:49332820:GG:G	donor_gain	1.0000
X:49332820:GGGT:G	donor_loss	1.0000
X:49332821:GG:G	donor_gain	1.0000
X:49332821:GGTG:G	donor_loss	1.0000
X:49332822:G:GA	donor_loss	1.0000
X:49332822:G:GG	donor_gain	1.0000
X:49332823:T:A	donor_loss	1.0000
X:49332823:T:G	donor_loss	1.0000
X:49333260:A:AG	acceptor_gain	1.0000
X:49333260:ATTT:A	acceptor_gain	1.0000
X:49333261:T:G	acceptor_gain	1.0000
X:49333263:T:TA	acceptor_gain	1.0000
X:49333266:A:AG	acceptor_gain	1.0000
X:49333267:C:G	acceptor_gain	1.0000
X:49333268:A:AG	acceptor_gain	1.0000
X:49333269:C:G	acceptor_gain	1.0000
X:49333272:A:AG	acceptor_gain	1.0000
X:49333272:ACAC:A	acceptor_gain	1.0000
X:49333273:C:G	acceptor_gain	1.0000
X:49333274:A:AG	acceptor_gain	1.0000
X:49333274:AC:A	acceptor_gain	1.0000
X:49333275:C:CA	acceptor_gain	1.0000
X:49333275:C:G	acceptor_gain	1.0000
X:49333278:A:AG	acceptor_gain	1.0000

AlphaMissense

763 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:49333296:T:C	F32L	0.851
X:49333298:C:A	F32L	0.851
X:49333298:C:G	F32L	0.851
X:49332746:G:C	W3C	0.731
X:49332746:G:T	W3C	0.731
X:49332744:T:A	W3R	0.697
X:49332744:T:C	W3R	0.697
X:49332755:A:C	R6S	0.693
X:49332755:A:T	R6S	0.693
X:49332745:G:T	W3L	0.688
X:49332750:G:A	G5R	0.673
X:49332750:G:C	G5R	0.673
X:49332751:G:A	G5E	0.602
X:49332741:A:C	S2R	0.586
X:49332743:T:A	S2R	0.586
X:49332743:T:G	S2R	0.586

dbSNP variants (sampled 300 via entrez): RS112750640 (X:49338051 T>C), RS1157074814 (X:49335008 C>A,G,T), RS1157248843 (X:49335473 A>G), RS1157349418 (X:49332073 T>C), RS1157511343 (X:49333461 TGTGTGTGTGTGCAC>T), RS1157676162 (X:49333475 C>A,G,T), RS1158173120 (X:49331523 C>A), RS1159228658 (X:49337740 T>A,C), RS1159823613 (X:49334437 A>G), RS1160075231 (X:49336532 A>C), RS1160918376 (X:49333027 G>A,C), RS1161023242 (X:49338586 A>C), RS1161076761 (X:49331743 G>C), RS1161153650 (X:49334730 A>G,T), RS1161222536 (X:49335257 C>T)

Disease associations

OMIM: gene MIM:300734 | 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.