• Gene id: 10916

Gene Summary

• Gene Symbol: MAGED2   Gene   UCSC   Ensembl
• Aliases: 11B6, BARTS5, BCG-1, BCG1, HCA10, MAGE-D2
• Gene name: MAGE family member D2
• Alternate names: melanoma-associated antigen D2, MAGE-D2 antigen, breast cancer-associated gene 1 protein, hepatocellular carcinoma-associated protein JCL-1, melanoma antigen family D, 2, melanoma antigen family D2,
• Gene location: Xp11.21 (54807744: 54816014)     Exons: 15     NC_000023.11
• Gene summary(Entrez): This gene is a member of the MAGED gene family. The MAGED genes are clustered on chromosome Xp11. This gene is located in Xp11.2, a hot spot for X-linked intellectual disability (XLID). Mutations in this gene cause a form of transient antenatal Bartter's
• OMIM: 300470

Protein Summary

• Protein general information: Q9UNF1  
  • Name: Melanoma associated antigen D2 (11B6) (Breast cancer associated gene 1 protein) (BCG 1) (Hepatocellular carcinoma associated protein JCL 1) (MAGE D2 antigen)
  • Length: 606  
  • Mass: 64954
  • Tissue specificity: Widely expressed. In the developing and adult kidney, expressed in the thick ascending limb of the loop of Henle and the distal convoluted tubules outside the loop. {ECO
• Sequence:

  MSDTSESGAGLTRFQAEASEKDSSSMMQTLLTVTQNVEVPETPKASKALEVSEDVKVSKASGVSKATEVSKTPEA
  REAPATQASSTTQLTDTQVLAAENKSLAADTKKQNADPQAVTMPATETKKVSHVADTKVNTKAQETEAAPSQAPA
  DEPEPESAAAQSQENQDTRPKVKAKKARKVKHLDGEEDGSSDQSQASGTTGGRRVSKALMASMARRASRGPIAFW
  ARRASRTRLAAWARRALLSLRSPKARRGKARRRAAKLQSSQEPEAPPPRDVALLQGRANDLVKYLLAKDQTKIPI
  KRSDMLKDIIKEYTDVYPEIIERAGYSLEKVFGIQLKEIDKNDHLYILLSTLEPTDAGILGTTKDSPKLGLLMVL
  LSIIFMNGNRSSEAVIWEVLRKLGLRPGIHHSLFGDVKKLITDEFVKQKYLDYARVPNSNPPEYEFFWGLRSYYE
  TSKMKVLKFACKVQKKDPKEWAAQYREAMEADLKAAAEAAAEAKARAEIRARMGIGLGSENAAGPCNWDEADIGP
  WAKARIQAGAEAKAKAQESGSASTGASTSTNNSASASASTSGGFSAGASLTATLTFGLFAGLGGAGASTSGSSGA
  CGFSYK

• Structural information:
  • Protein Domains: (279..47-)
    (/note="MAGE-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00127"-)
  • Interpro: IPR037445  IPR041898  IPR041899  IPR028810  IPR002190  
  • Prosite: PS50838
  • DIP: 50722
  • STRING: ENSP00000364209
• Other Databases: GeneCards:  MAGED2  Malacards:  MAGED2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007565	female pregnancy	IMP	biological process
GO:0070294	renal sodium ion absorption	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0002576	platelet degranulation	TAS	biological process
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Bartter syndrome	KEGG:H00239
Bartter syndrome	KEGG:H00239
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R