• Gene id: 161357

Gene Summary

• Gene Symbol: MDGA2   Gene   UCSC   Ensembl
• Aliases: MAMDC1, c14_5286
• Gene name: MAM domain containing glycosylphosphatidylinositol anchor 2
• Alternate names: MAM domain-containing glycosylphosphatidylinositol anchor protein 2, MAM domain containing 1,
• Gene location: 14q21.3 (47675315: 46836517)     Exons: 23     NC_000014.9
• OMIM: 618119

Protein Summary

• Protein general information: Q7Z553  
  • Name: MAM domain containing glycosylphosphatidylinositol anchor protein 2 (MAM domain containing protein 1)
  • Length: 956  
  • Mass: 107436
  • Tissue specificity: Detected in Leydig cells, syncytiotrophoblast, duodenal villi epithelial cells and neutrophils from kidney and cutaneous squamous cell carcinoma (at protein level). {ECO
• Sequence:

  MDLLYGLVWLLTVLLEGISGQGVYAPPTVRIVHSGLACNIEEERYSERVYTIREGETLELTCLVTGHPRPQIRWT
  KTAGSASDRFQDSSVFNETLRITNIQRHQGGRYYCKAENGLGSPAIKSIRVDVYYLDDPVVTVHQSIGEAKEQFY
  YERTVFLRCVANSNPPVRYSWRRGQEVLLQGSDKGVEIYEPFFTQGETKILKLKNLRPQDYANYSCIASVRNVCN
  IPDKMVSFRLSNKTASPSIKLLVDDPIVVNPGEAITLVCVTTGGEPAPSLTWVRSFGTLPEKTVLNGGTLTIPAI
  TSDDAGTYSCIANNNVGNPAKKSTNIIVRALKKGRFWITPDPYHKDDNIQIGREVKISCQVEAVPSEELTFSWFK
  NGRPLRSSERMVITQTDPDVSPGTTNLDIIDLKFTDFGTYTCVASLKGGGISDISIDVNISSSTVPPNLTVPQEK
  SPLVTREGDTIELQCQVTGKPKPIILWSRADKEVAMPDGSMQMESYDGTLRIVNVSREMSGMYRCQTSQYNGFNV
  KPREALVQLIVQYPPAVEPAFLEIRQGQDRSVTMSCRVLRAYPIRVLTYEWRLGNKLLRTGQFDSQEYTEYAVKS
  LSNENYGVYNCSIINEAGAGRCSFLVTGKAYAPEFYYDTYNPVWQNRHRVYSYSLQWTQMNPDAVDRIVAYRLGI
  RQAGQQRWWEQEIKINGNIQKGELITYNLTELIKPEAYEVRLTPLTKFGEGDSTIRVIKYSAPVNPHLREFHCGF
  EDGNICLFTQDDTDNFDWTKQSTATRNTKYTPNTGPNADRSGSKEGFYMYIETSRPRLEGEKARLLSPVFSIAPK
  NPYGPTNTAYCFSFFYHMYGQHIGVLNVYLRLKGQTTIENPLWSSSGNKGQRWNEAHVNIYPITSFQLIFEGIRG
  PGIEGDIAIDDVSIAEGECAKQDLATKNSVDGAVGILVHIWLFPIIVLISILSPRR

• Structural information:
  • Protein Domains: (27..12-)
    (/note="Ig-like-1)
    (134..23-)
    (/note="Ig-like-2)
    (242..32-)
    (/note="Ig-like-3)
    (340..43-)
    (/note="Ig-like-4)
    (442..53-)
    (/note="Ig-like-5)
    (540..62-)
    (/note="Ig-like-6)
    (638..73-)
    (/note="Fibronect-)
  • Interpro: IPR013320  IPR003961  IPR036116  IPR007110  IPR036179   IPR013783  IPR013098  IPR003599  IPR003598  IPR000998  
  • Prosite: PS50853 PS50835 PS50060
  • CDD: cd06263
  • STRING: ENSP00000382178
• Other Databases: GeneCards:  MDGA2  Malacards:  MDGA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0021522	spinal cord motor neuron differentiation	ISS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq