BAGE

Summary

BAGE (B melanoma antigen, HGNC:942) is a protein-coding gene on chromosome 21p11.1 not on reference assembly, encoding B melanoma antigen 1 (Q13072). Unknown.

This gene encodes a tumor antigen recognized by autologous cytolytic lymphocytes (CTL).

Source: NCBI Gene 574 — RefSeq curated summary.

At a glance

• GWAS associations: 1

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:942
Approved symbol	BAGE
Name	B melanoma antigen
Location	21p11.1 not on reference assembly
Locus type	gene with protein product
Status	Approved
Aliases	CT2.1, BAGE1
OMIM	605167
Entrez	574

Gene structure

Transcript identifiers

Ensembl transcripts: 0

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

None — 0 exons

Expression profiles

Top tissues by expression

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

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 3)

• five new BAGE genes mapping to the juxtacentromeric regions of human chromosomes 13 and 21 and nine BAGE gene fragments mapping to the juxtacentromeric regions of chromosomes 9, 13, 18, and 21 (PMID:12461691)
• BAGE loci were hypomethylated in 81% of colorectal carcinoma samples. (PMID:18541613)
• Tumor-specific antigen BAGE may play a role in the occurrence and development of ovarian cancer and can be used as one of the important indicators for early diagnosis, efficacy evaluation and prognostic determination of ovarian cancer. (PMID:20423514)

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

B melanoma antigen 1 — Q13072 (reviewed: Q13072)

Alternative names: Antigen MZ2-BA, Cancer/testis antigen 2.1

All UniProt accessions (0):

UniProt curated annotations — full annotation on UniProt →

Function. Unknown. Antigen recognized on a melanoma by autologous cytolytic T-lymphocytes.

Subcellular location. Secreted.

Tissue specificity. Not expressed in normal tissues, except in testis. Expressed with significant proportion in melanomas, but also in tumors of various histological origins, such as bladder carcinomas, head and neck squamous cell carcinomas, lung and breast carcinomas. Not expressed in renal, colorectal and prostatic carcinomas, leukemias and lymphomas. More frequently expressed in metastatic melanomas than in primary melanomas.

Miscellaneous. The ancestral BAGE gene was generated by juxtacentromeric reshuffling of the KMT2C/MLL3 gene. The BAGE family was expanded by juxtacentromeric movement and/or acrocentric exchanges. BAGE family is composed of expressed genes that map to the juxtacentromeric regions of chromosomes 13 and 21 and of unexpressed gene fragments that scattered in the juxtacentromeric regions of several chromosomes, including chromosomes 9, 13, 18 and 21.

Similarity. Belongs to the BAGE family.

Isoforms (1)

UniProt ID	Names	Canonical?
Q13072-1	1, BAGE1a	yes

RefSeq proteins (0): (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR012530	BAGE-like	Family

Pfam: PF08180

UniProt features (2 total): signal peptide 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13072-F1	71.00	0.14

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

17 interactions, top by confidence:

A	B	Type	Score
PRKCA	BAGE	psi-mi:“MI:0915”(physical association)	0.560
BAGE	YWHAG	psi-mi:“MI:0915”(physical association)	0.560
BAGE	SETDB1	psi-mi:“MI:0915”(physical association)	0.560
KAT5	BAGE	psi-mi:“MI:0915”(physical association)	0.560
LMO3	BAGE	psi-mi:“MI:0915”(physical association)	0.560
ECE1	BAGE	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (1): BAGE (Affinity Capture-RNA)

ESM2 similar proteins: A1X8B6, A4IFR0, A6NNL5, B3H4Y2, C0HM02, L7N648, O09800, O19098, P03165, P0C689, P0C6L2, P0CJ76, P0DO60, P12912, P16791, P40932, P45440, P47909, P85439, Q0JDA2, Q0VG49, Q13072, Q2I2R7, Q338P6, Q3E7A3, Q4R1S1, Q4R1S9, Q5AV05, Q64902, Q6J1A5, Q6NNL9, Q6REU5, Q6SW81, Q6ZH92, Q84VK7, Q89448, Q8JMY3, Q8NG41, Q8S8K8, Q8TGJ3

Diamond homologs: Q13072, Q86Y27, Q86Y28, Q86Y29, Q86Y30

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

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

Disease associations

OMIM: gene MIM:605167 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST002112_7	Celiac disease	2.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression	3
Cadmium	decreases expression, increases abundance	1
Formaldehyde	decreases expression	1
Valproic Acid	increases methylation	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	affects expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	decreases expression, increases abundance	1
Copper Sulfate	increases expression	1

Clinical trials (associated diseases)

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