• Gene id: 256691

Gene Summary

• Gene Symbol: MAMDC2   Gene   UCSC   Ensembl
• Gene name: MAM domain containing 2
• Alternate names: MAM domain-containing protein 2, MAM domain-containing proteoglycan, mamcan,
• Gene location: 9q21.12 (70043580: 70226971)     Exons: 16     NC_000009.12
• OMIM: 612879

Protein Summary

• Protein general information: Q7Z304  
  • Name: MAM domain containing protein 2 (MAM domain containing proteoglycan) (Mamcan)
  • Length: 686  
  • Mass: 77556
• Sequence:

  MLLRGVLLALQALQLAGALDLPAGSCAFEESTCGFDSVLASLPWILNEEGHYIYVDTSFGKQGEKAVLLSPDLQA
  EEWSCLRLVYQITTSSESLSDPSQLNLYMRFEDESFDRLLWSAKEPSDSWLIASLDLQNSSKKFKILIEGVLGQG
  NTASIALFEIKMTTGYCIECDFEENHLCGFVNRWNPNVNWFVGGGSIRNVHSILPQDHTFKSELGHYMYVDSVYV
  KHFQEVAQLISPLTTAPMAGCLSFYYQIQQGNDNVFSLYTRDVAGLYEEIWKADRPGNAAWNLAEVEFSAPYPME
  VIFEVAFNGPKGGYVALDDISFSPVHCQNQTELLFSAVEASCNFEQDLCNFYQDKEGPGWTRVKVKPNMYRAGDH
  TTGLGYYLLANTKFTSQPGYIGRLYGPSLPGNLQYCLRFHYAIYGFLKMSDTLAVYIFEENHVVQEKIWSVLESP
  RGVWMQAEITFKKPMPTKVVFMSLCKSFWDCGLVALDDITIQLGSCSSSEKLPPPPGECTFEQDECTFTQEKRNR
  SSWHRRRGETPTSYTGPKGDHTTGVGYYMYIEASHMVYGQKARLLSRPLRGVSGKHCLTFFYHMYGGGTGLLSVY
  LKKEEDSEESLLWRRRGEQSISWLRALIEYSCERQHQIIFEAIRGVSIRSDIAIDDVKFQAGPCGEMEDTTQQSS
  GYSEDLNEIEY

• Structural information:
  • Protein Domains: (24..16-)
    (/note="MAM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00128-)
    (168..32-)
    (/note="MAM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00128-)
    (340..49-)
    (/note="MAM-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00128-)
    (-)
  • Interpro: IPR013320  IPR000998  
  • Prosite: PS00740 PS50060
  • CDD: cd06263
  • STRING: ENSP00000366387
• Other Databases: GeneCards:  MAMDC2  Malacards:  MAMDC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R