GAGE12G

Summary

GAGE12G (G antigen 12G, HGNC:31907) is a protein-coding gene on chromosome Xp11.23, encoding G antigen 12G (P0CL81).

At a glance

• Clinical variants (ClinVar): 8 total — 1 pathogenic
• MANE Select transcript: NM_001098409

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31907
Approved symbol	GAGE12G
Name	G antigen 12G
Location	Xp11.23
Locus type	gene with protein product
Status	Approved
Aliases	OTTHUMG00000024148
Ensembl gene	ENSG00000215269
Ensembl biotype	protein_coding
OMIM	300731
Entrez	645073

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000445148

RefSeq mRNA: 9 — MANE Select: NM_001098409 NM_001098409, NM_001354422, NM_001421785, NM_001421786, NM_001421787, NM_001421794, NM_001421804, NM_001474, NM_021123

CCDS: CCDS43947

Canonical transcript exons

ENST00000445148 — 5 exons

Exon	Start	End
ENSE00001744474	49577641	49577754
ENSE00001755745	49570400	49570507
ENSE00001767377	49572104	49572224
ENSE00001805890	49575048	49575173
ENSE00002447533	49571547	49571638

Expression profiles

Bgee: expression breadth broad, 64 present calls, max score 92.55.

Top tissues by expression

109 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	92.55	gold quality
apex of heart	UBERON:0002098	50.19	gold quality
lower esophagus mucosa	UBERON:0035834	44.53	silver quality
ectocervix	UBERON:0012249	39.35	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
uterine cervix	UBERON:0000002	34.23	gold quality
fundus of stomach	UBERON:0001160	33.46	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
blood	UBERON:0000178	31.62	gold quality
mucosa of stomach	UBERON:0001199	31.44	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
left adrenal gland cortex	UBERON:0035825	29.92	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
descending thoracic aorta	UBERON:0002345	29.51	silver quality
prefrontal cortex	UBERON:0000451	29.19	gold quality
muscle of leg	UBERON:0001383	28.80	gold quality
endocervix	UBERON:0000458	28.50	gold quality
gastrocnemius	UBERON:0001388	28.45	gold quality
right lobe of liver	UBERON:0001114	28.35	silver quality
duodenum	UBERON:0002114	28.14	gold quality
right coronary artery	UBERON:0001625	27.96	gold quality
lymph node	UBERON:0000029	27.57	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	27.29	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-81383	yes	1034.52
E-MTAB-3929	yes	119.68
E-CURD-11	yes	79.75
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), GAGE10 (ENSG00000215274), GAGE12E (ENSG00000216649), GAGE12J (ENSG00000224659), GAGE12H (ENSG00000224902), GAGE12D (ENSG00000227488), PAGE2 (ENSG00000234068), GAGE12F (ENSG00000236362), GAGE12C (ENSG00000237671), PAGE2B (ENSG00000238269), GAGE13 (ENSG00000274274), GAGE2E (ENSG00000275113)

Protein

Protein identifiers

G antigen 12G — P0CL81 (reviewed: P0CL81)

All UniProt accessions (3): P0CL81, O76087, P0CL82

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Forms tetramers.

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 (9): NP_001091879, NP_001341351, NP_001408714, NP_001408715, NP_001408716, NP_001408723, NP_001408733, NP_001465, NP_066946 (=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-P0CL81-F1	63.00	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 21 (showing top): MODULE_52, SATO_SILENCED_BY_DEACETYLATION_IN_PANCREATIC_CANCER, MODULE_379, MODULE_99, MODULE_6, MODULE_242, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, RAY_TARGETS_OF_P210_BCR_ABL_FUSION_UP, MODULE_104, MODULE_7, MODULE_181, chrXp11, MODULE_41, DALESSIO_TSA_RESPONSE, MODULE_17

GO Biological Process (1): biological_process (GO:0008150)

GO Molecular Function (2): molecular_function (GO:0003674), protein binding (GO:0005515)

GO Cellular Component (1): cellular_component (GO:0005575)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

BioGRID (13): GMCL1 (Two-hybrid), GMCL1P1 (Two-hybrid), GAGE7 (Positive Genetic), GAGE12I (Positive Genetic), GAGE12G (Positive Genetic), GAGE12F (Positive Genetic), GAGE12G (Two-hybrid), GAGE12G (Two-hybrid), GAGE12G (Two-hybrid), EXOC3L2 (Two-hybrid), GAGE12G (Affinity Capture-MS), GMCL1 (Two-hybrid), GMCL1 (Affinity Capture-Luminescence)

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	1
Likely pathogenic	0
Uncertain significance	6
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
57339	GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1	Pathogenic

SpliceAI

625 predictions. Top by Δscore:

Variant	Effect	Δscore
X:49571545:A:AG	acceptor_gain	1.0000
X:49571546:G:GG	acceptor_gain	1.0000
X:49571546:GT:G	acceptor_gain	1.0000
X:49572077:A:AG	acceptor_gain	1.0000
X:49572080:T:A	acceptor_gain	1.0000
X:49572083:A:AG	acceptor_gain	1.0000
X:49572084:C:G	acceptor_gain	1.0000
X:49572085:A:AG	acceptor_gain	1.0000
X:49572086:C:G	acceptor_gain	1.0000
X:49572089:A:AG	acceptor_gain	1.0000
X:49572089:ACAC:A	acceptor_gain	1.0000
X:49572090:C:G	acceptor_gain	1.0000
X:49572091:A:AG	acceptor_gain	1.0000
X:49572091:AC:A	acceptor_gain	1.0000
X:49572092:C:CA	acceptor_gain	1.0000
X:49572092:C:G	acceptor_gain	1.0000
X:49572095:A:AG	acceptor_gain	1.0000
X:49572096:T:G	acceptor_gain	1.0000
X:49572102:A:AG	acceptor_gain	1.0000
X:49572103:G:GG	acceptor_gain	1.0000
X:49572191:G:GT	donor_gain	1.0000
X:49572206:G:GT	donor_gain	1.0000
X:49572237:G:T	donor_gain	1.0000
X:49575044:TAAG:T	acceptor_loss	1.0000
X:49575045:A:AG	acceptor_gain	1.0000
X:49575045:AAG:A	acceptor_gain	1.0000
X:49575045:AAGG:A	acceptor_gain	1.0000
X:49575046:A:G	acceptor_gain	1.0000
X:49575046:AG:A	acceptor_gain	1.0000
X:49575046:AGG:A	acceptor_gain	1.0000

AlphaMissense

764 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:49572113:T:C	F32L	0.825
X:49572115:C:A	F32L	0.825
X:49572115:C:G	F32L	0.825
X:49571563:G:C	W3C	0.694
X:49571563:G:T	W3C	0.694
X:49571561:T:A	W3R	0.666
X:49571561:T:C	W3R	0.666
X:49571567:G:A	G5R	0.656
X:49571567:G:C	G5R	0.656
X:49571572:A:C	R6S	0.655
X:49571572:A:T	R6S	0.655
X:49571562:G:T	W3L	0.651
X:49571568:G:A	G5E	0.569
X:49571558:A:C	S2R	0.565
X:49571560:T:A	S2R	0.565
X:49571560:T:G	S2R	0.565

dbSNP variants (sampled 300 via entrez): RS1156272928 (X:49568794 T>G), RS1156383939 (X:49576467 T>G), RS1158067677 (X:49569448 T>C), RS1161236503 (X:49571917 C>T), RS1162567637 (X:49568979 G>A), RS1164512556 (X:49576533 T>C), RS1165929180 (X:49568991 G>A,T), RS1169896944 (X:49572446 T>G), RS1173485370 (X:49569272 A>G), RS1175142073 (X:49568576 C>T), RS1177148734 (X:49573588 G>A,T), RS1179424962 (X:49569526 G>A), RS1181386074 (X:49569351 T>G), RS1181835269 (X:49576470 T>A), RS1182533330 (X:49568836 G>A)

Disease associations

OMIM: gene MIM:300731 | 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
methylparaben	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Cadmium	decreases expression	1

Clinical trials (associated diseases)

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