GAGE12F

Summary

GAGE12F (G antigen 12F, HGNC:31906) is a protein-coding gene on chromosome Xp11.23, encoding G antigen 12F (P0CL80).

At a glance

• MANE Select transcript: NM_001098405

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31906
Approved symbol	GAGE12F
Name	G antigen 12F
Location	Xp11.23
Locus type	gene with protein product
Status	Approved
Aliases	OTTHUMG00000024147
Ensembl gene	ENSG00000236362
Ensembl biotype	protein_coding
OMIM	300730
Entrez	100008586

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000440137, ENST00000639028, ENST00000931564

RefSeq mRNA: 8 — MANE Select: NM_001098405 NM_001098405, NM_001421785, NM_001421786, NM_001421787, NM_001421794, NM_001421804, NM_001474, NM_021123

CCDS: CCDS43946

Canonical transcript exons

ENST00000440137 — 5 exons

Exon	Start	End
ENSE00001617845	49568092	49568205
ENSE00001661272	49565495	49565620
ENSE00001714427	49560842	49560949
ENSE00001734198	49561989	49562080
ENSE00001738117	49562546	49562666

Expression profiles

Bgee: expression breadth broad, 98 present calls, max score 99.03.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	99.03	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	98.95	gold quality
left testis	UBERON:0004533	98.69	gold quality
testis	UBERON:0000473	98.55	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	96.99	gold quality
apex of heart	UBERON:0002098	50.19	gold quality
endocervix	UBERON:0000458	45.43	gold quality
lower esophagus mucosa	UBERON:0035834	44.53	silver quality
ectocervix	UBERON:0012249	43.98	gold quality
uterine cervix	UBERON:0000002	42.33	gold quality
right adrenal gland	UBERON:0001233	41.07	gold quality
fundus of stomach	UBERON:0001160	41.00	gold quality
blood	UBERON:0000178	40.94	gold quality
descending thoracic aorta	UBERON:0002345	38.99	gold quality
gastrocnemius	UBERON:0001388	37.62	gold quality
left adrenal gland cortex	UBERON:0035825	37.23	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
right uterine tube	UBERON:0001302	37.13	silver quality
right lobe of liver	UBERON:0001114	36.93	gold quality
right adrenal gland cortex	UBERON:0035827	36.65	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
muscle of leg	UBERON:0001383	36.31	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
liver	UBERON:0002107	35.59	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
left adrenal gland	UBERON:0001234	34.81	gold quality
adrenal gland	UBERON:0002369	34.59	gold quality
pituitary gland	UBERON:0000007	34.47	gold quality
monocyte	CL:0000576	34.36	gold quality

Single-cell (SCXA)

Detected in 9 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-GEOD-124263	yes	8445.90
E-GEOD-134144	yes	7157.09
E-GEOD-81383	yes	1428.86
E-MTAB-6308	yes	807.84
E-MTAB-7249	yes	360.94
E-CURD-11	yes	259.59
E-MTAB-6524	yes	28.73
E-CURD-53	no	4766.13
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• GAGE7B significantly promotes gastric cancer progression by upregulating the p38delta/pMAPKAPK2/pHSP27 pathway, but it is negatively regulated by miR-30c. (PMID:30871606)

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), GAGE12C (ENSG00000237671), PAGE2B (ENSG00000238269), GAGE13 (ENSG00000274274), GAGE2E (ENSG00000275113)

Protein

Protein identifiers

G antigen 12F — P0CL80 (reviewed: P0CL80)

All UniProt accessions (3): P0CL80, 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.

Isoforms (2)

UniProt ID	Names	Canonical?
P0CL80-1	1	yes
P0CL80-2	2

RefSeq proteins (8): NP_001091875, 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 (6 total): compositionally biased region 3, chain 1, region of interest 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0CL80-F1	62.42	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 32 (showing top): MODULE_52, SATO_SILENCED_BY_DEACETYLATION_IN_PANCREATIC_CANCER, MODULE_16, SARRIO_EPITHELIAL_MESENCHYMAL_TRANSITION_DN, HERNANDEZ_ABERRANT_MITOSIS_BY_DOCETACEL_4NM_UP, HERNANDEZ_MITOTIC_ARREST_BY_DOCETAXEL_1_UP, HERNANDEZ_MITOTIC_ARREST_BY_DOCETAXEL_2_UP, MODULE_66, MODULE_118, MODULE_88, MODULE_6, MODULE_18, MODULE_11, MODULE_60, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN

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

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

1323 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

764 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1175142073 (X:49568576 C>T), RS1178070913 (X:49567095 G>A), RS1194218066 (X:49563028 C>G), RS1201922657 (X:49566697 T>C), RS1203425832 (X:49568661 A>G), RS1211354024 (X:49568677 A>C), RS1213166088 (X:49566443 G>A), RS1219870308 (X:49566775 G>A), RS1223382700 (X:49563623 A>G), RS1223491571 (X:49566754 C>T), RS1231969496 (X:49566690 G>C), RS1239211880 (X:49568628 G>A,C), RS1258296171 (X:49568674 G>C,T), RS1259054707 (X:49566744 A>G,T), RS1265224785 (X:49563014 A>C)

Disease associations

OMIM: gene MIM:300730 | 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

1 total (human), top 1 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation	1

Clinical trials (associated diseases)

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