GAGE12H

Summary

GAGE12H (G antigen 12H, HGNC:31908) is a protein-coding gene on chromosome Xp11.23, encoding G antigen 12H (A6NDE8).

At a glance

• Clinical variants (ClinVar): 55 total
• MANE Select transcript: NM_001098410

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31908
Approved symbol	GAGE12H
Name	G antigen 12H
Location	Xp11.23
Locus type	gene with protein product
Status	Approved
Aliases	OTTHUMG00000024149
Ensembl gene	ENSG00000224902
Ensembl biotype	protein_coding
OMIM	300732
Entrez	729442

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000381722

RefSeq mRNA: 1 — MANE Select: NM_001098410 NM_001098410

CCDS: CCDS43948

Canonical transcript exons

ENST00000381722 — 5 exons

Exon	Start	End
ENSE00001673390	49584596	49584721
ENSE00001676547	49581096	49581187
ENSE00001697844	49581653	49581773
ENSE00001747343	49579949	49580056
ENSE00001793182	49587188	49587301

Expression profiles

Bgee: expression breadth broad, 30 present calls, max score 95.60.

Top tissues by expression

108 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	95.60	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	79.23	silver quality
testis	UBERON:0000473	50.03	gold quality
right testis	UBERON:0004534	46.52	gold quality
left testis	UBERON:0004533	45.99	gold quality
bone marrow cell	CL:0002092	37.92	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
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
bone marrow	UBERON:0002371	32.64	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
right lung	UBERON:0002167	31.32	silver quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.21	gold quality
liver	UBERON:0002107	28.36	gold quality
duodenum	UBERON:0002114	28.14	gold quality
urinary bladder	UBERON:0001255	27.99	silver quality
lymph node	UBERON:0000029	27.57	gold quality
leukocyte	CL:0000738	27.35	gold quality
monocyte	CL:0000576	27.33	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	27.30	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.37	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	884.78
E-GEOD-134144	yes	718.14
E-MTAB-3929	yes	485.98
E-MTAB-6524	yes	18.00
E-ANND-3	no	0.21

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), GAGE12D (ENSG00000227488), PAGE2 (ENSG00000234068), GAGE12F (ENSG00000236362), GAGE12C (ENSG00000237671), PAGE2B (ENSG00000238269), GAGE13 (ENSG00000274274), GAGE2E (ENSG00000275113)

Protein

Protein identifiers

G antigen 12H — A6NDE8 (reviewed: A6NDE8)

All UniProt accessions (1): A6NDE8

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_001091880* (*=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-A6NDE8-F1	63.29	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

1169 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GAGE12H	BNIP5	P0C671	571
GAGE12H	SEL1L2	Q5TEA6	540
GAGE12H	GOLGA6A	Q9NYA3	447
GAGE12H	FAM180B	Q6P0A1	446
GAGE12H	FAM168B	A1KXE4	445
GAGE12H	PPP1R3F	Q6ZSY5	419
GAGE12H	FAM168A	Q92567	403
GAGE12H	C17orf99	Q6UX52	400
GAGE12H	CPPED1	Q9BRF8	379
GAGE12H	PRR4	Q16378	316
GAGE12H	LRP2BP	Q9P2M1	270
GAGE12H	LDLRAD2	Q5SZI1	257
GAGE12H	SSC4D	Q8WTU2	247
GAGE12H	CRYAA	P02489	233
GAGE12H	BSPH1	Q075Z2	231

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	51
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

629 predictions. Top by Δscore:

Variant	Effect	Δscore
X:49581094:A:AG	acceptor_gain	1.0000
X:49581095:G:GG	acceptor_gain	1.0000
X:49581095:GT:G	acceptor_gain	1.0000
X:49581629:T:A	acceptor_gain	1.0000
X:49581632:A:AG	acceptor_gain	1.0000
X:49581633:C:G	acceptor_gain	1.0000
X:49581634:A:AG	acceptor_gain	1.0000
X:49581635:C:G	acceptor_gain	1.0000
X:49581638:A:AG	acceptor_gain	1.0000
X:49581638:ACAC:A	acceptor_gain	1.0000
X:49581639:C:G	acceptor_gain	1.0000
X:49581640:A:AG	acceptor_gain	1.0000
X:49581640:AC:A	acceptor_gain	1.0000
X:49581641:C:CA	acceptor_gain	1.0000
X:49581641:C:G	acceptor_gain	1.0000
X:49581645:T:G	acceptor_gain	1.0000
X:49581755:G:GT	donor_gain	1.0000
X:49581786:G:T	donor_gain	1.0000
X:49584591:TTAA:T	acceptor_loss	1.0000
X:49584592:TAA:T	acceptor_loss	1.0000
X:49584593:A:AG	acceptor_gain	1.0000
X:49584593:AAG:A	acceptor_gain	1.0000
X:49584593:AAGG:A	acceptor_gain	1.0000
X:49584594:A:AG	acceptor_gain	1.0000
X:49584594:AG:A	acceptor_gain	1.0000
X:49584594:AGG:A	acceptor_gain	1.0000
X:49584595:G:A	acceptor_gain	1.0000
X:49584595:G:GA	acceptor_gain	1.0000
X:49584595:GGG:G	acceptor_gain	1.0000
X:49584595:GGGCC:G	acceptor_gain	1.0000

AlphaMissense

765 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:49581662:T:C	F32L	0.858
X:49581664:C:A	F32L	0.858
X:49581664:C:G	F32L	0.858
X:49581112:G:C	W3C	0.728
X:49581112:G:T	W3C	0.728
X:49581110:T:A	W3R	0.693
X:49581110:T:C	W3R	0.693
X:49581121:A:C	R6S	0.663
X:49581121:A:T	R6S	0.663
X:49581111:G:T	W3L	0.650
X:49581116:G:A	G5R	0.631
X:49581116:G:C	G5R	0.631

dbSNP variants (sampled 300 via entrez): RS1158204099 (X:49581812 G>A), RS1160072487 (X:49582023 G>A,T), RS1161438623 (X:49582148 A>G), RS1166352870 (X:49581341 AT>A,ATT), RS1173374548 (X:49581661 G>C), RS1183956410 (X:49581825 C>T), RS1185281807 (X:49582032 C>G,T), RS1192281722 (X:49582344 C>T), RS1197082075 (X:49581691 T>C), RS1198250262 (X:49581892 C>G), RS1208245881 (X:49581524 A>G), RS1214284473 (X:49581560 C>A), RS1215489898 (X:49582036 G>C), RS1219947620 (X:49581619 A>G), RS1224699137 (X:49582059 C>T)

Disease associations

OMIM: gene MIM:300732 | 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.