• Gene id: 2515

Gene Summary

• Gene Symbol: ADAM2   Gene   UCSC   Ensembl
• Aliases: CRYN1, CRYN2, CT15, FTNB, PH-30b, PH30, PH30-beta
• Gene name: ADAM metallopeptidase domain 2
• Alternate names: disintegrin and metalloproteinase domain-containing protein 2, cancer/testis antigen 15, fertilin subunit beta,
• Gene location: 8p11.22 (39838226: 39743734)     Exons: 21     NC_000008.11
• Gene summary(Entrez): This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes
• OMIM: 601533

Protein Summary

• Protein general information: Q99965  
  • Name: Disintegrin and metalloproteinase domain containing protein 2 (ADAM 2) (Cancer/testis antigen 15) (CT15) (Fertilin subunit beta) (PH 30) (PH30) (PH30 beta)
  • Length: 735  
  • Mass: 82457
  • Tissue specificity: Expressed specifically in spermatogenic cells in the seminiferous cells. Not detected in fetal tissues.
• Sequence:

  MWRVLFLLSGLGGLRMDSNFDSLPVQITVPEKIRSIIKEGIESQASYKIVIEGKPYTVNLMQKNFLPHNFRVYSY
  SGTGIMKPLDQDFQNFCHYQGYIEGYPKSVVMVSTCTGLRGVLQFENVSYGIEPLESSVGFEHVIYQVKHKKADV
  SLYNEKDIESRDLSFKLQSVEPQQDFAKYIEMHVIVEKQLYNHMGSDTTVVAQKVFQLIGLTNAIFVSFNITIIL
  SSLELWIDENKIATTGEANELLHTFLRWKTSYLVLRPHDVAFLLVYREKSNYVGATFQGKMCDANYAGGVVLHPR
  TISLESLAVILAQLLSLSMGITYDDINKCQCSGAVCIMNPEAIHFSGVKIFSNCSFEDFAHFISKQKSQCLHNQP
  RLDPFFKQQAVCGNAKLEAGEECDCGTEQDCALIGETCCDIATCRFKAGSNCAEGPCCENCLFMSKERMCRPSFE
  ECDLPEYCNGSSASCPENHYVQTGHPCGLNQWICIDGVCMSGDKQCTDTFGKEVEFGPSECYSHLNSKTDVSGNC
  GISDSGYTQCEADNLQCGKLICKYVGKFLLQIPRATIIYANISGHLCIAVEFASDHADSQKMWIKDGTSCGSNKV
  CRNQRCVSSSYLGYDCTTDKCNDRGVCNNKKHCHCSASYLPPDCSVQSDLWPGGSIDSGNFPPVAIPARLPERRY
  IENIYHSKPMRWPFFLFIPFFIIFCVLIAIMVKVNFQRKKWRTEDYSSDEQPESESEPKG

• Structural information:
  • Protein Domains: (178..37-)
    (/note="Peptidase-M12B)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00276-)
    (384..47-)
    (/note="Disintegrin-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00068-)
    (612..64-)
    (/note="EGF-like"-)
  • Interpro: IPR033958  IPR006586  IPR018358  IPR001762  IPR036436   IPR024079  IPR001590  IPR002870  IPR034027  
  • Prosite: PS50215 PS00427 PS50214
  • CDD: cd04269
  • STRING: ENSP00000265708
• Other Databases: GeneCards:  ADAM2  Malacards:  ADAM2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006508	proteolysis	IEA	biological process
GO:0007338	single fertilization	IEA	biological process
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0005178	integrin binding	TAS	molecular function
GO:0008237	metallopeptidase activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007342	fusion of sperm to egg plasma membrane involved in single fertilization	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0007339	binding of sperm to zona pellucida	TAS	biological process
GO:0032991	protein-containing complex	IEA	cellular component
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0030534	adult behavior	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0008542	visual learning	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Alzheimer's disease	PMID:10686596
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Associated with spermatogenesis and epigenetic regulation	MIK: 21674046
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)
21674046	Associated with spermatogenesis and epigenetic regulation			18	Male infertility	GSE26881
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray