• Gene id: 4111

Gene Summary

• Gene Symbol: MAGEA12   Gene   UCSC   Ensembl
• Aliases: CT1.12, MAGE12
• Gene name: MAGE family member A12
• Alternate names: melanoma-associated antigen 12, MAGE12F antigen, cancer/testis antigen 1.12, cancer/testis antigen family 1, member 12, melanoma antigen family A, 12, melanoma antigen family A12,
• Gene location: Xq28 (152733756: 152737668)     Exons: 24     NC_000023.11
• Gene summary(Entrez): This gene is closely related to several other genes clustered on chromosome X. These genes may be overexpressed in tumors. Multiple alternatively spliced variants encoding the same protein have been identified. [provided by RefSeq, Jun 2014]
• OMIM: 300177

Protein Summary

• Protein general information: P43365  
  • Name: Melanoma associated antigen 12 (Cancer/testis antigen 1.12) (CT1.12) (MAGE 12 antigen) (MAGE12F antigen)
  • Length: 314  
  • Mass: 34836
  • Tissue specificity: Expressed in many tumors of several types, such as melanoma, head and neck squamous cell carcinoma, lung carcinoma and breast carcinoma, but not in normal tissues except for testes.
• Sequence:

  MPLEQRSQHCKPEEGLEAQGEALGLVGAQAPATEEQETASSSSTLVEVTLREVPAAESPSPPHSPQGASTLPTTI
  NYTLWSQSDEGSSNEEQEGPSTFPDLETSFQVALSRKMAELVHFLLLKYRAREPFTKAEMLGSVIRNFQDFFPVI
  FSKASEYLQLVFGIEVVEVVRIGHLYILVTCLGLSYDGLLGDNQIVPKTGLLIIVLAIIAKEGDCAPEEKIWEEL
  SVLEASDGREDSVFAHPRKLLTQDLVQENYLEYRQVPGSDPACYEFLWGPRALVETSYVKVLHHLLKISGGPHIS
  YPPLHEWAFREGEE

• Structural information:
  • Protein Domains: (109..30-)
    (/note="MAGE-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00127"-)
  • Interpro: IPR037445  IPR021072  IPR041898  IPR041899  IPR002190  
  • Prosite: PS50838
  • STRING: ENSP00000377478
• Other Databases: GeneCards:  MAGEA12  Malacards:  MAGEA12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008150	biological_process	ND	biological process
GO:0005575	cellular_component	ND	cellular component
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 21412036
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21412036	Cryptorchidism			23 (4 controls, 19 cases)	Male infertility	GSE25518 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray