• Gene id: 8038

Gene Summary

• Gene Symbol: ADAM12   Gene   UCSC   Ensembl
• Aliases: ADAM12-OT1, CAR10, MCMP, MCMPMltna, MLTN, MLTNA
• Gene name: ADAM metallopeptidase domain 12
• Alternate names: disintegrin and metalloproteinase domain-containing protein 12, meltrin-alpha, metalloprotease-disintegrin 12 transmembrane,
• Gene location: 10q26.2 (126388476: 126012390)     Exons: 27     NC_000010.11
• Gene summary(Entrez): This gene encodes a member of a family of proteins that are structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle de

SNPs

rs12339229

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.28093234C>T
NC_000009.11   g.28093232C>T|SEQ=[C/T]|GENE=LINGO2

Protein Summary

• Protein general information: O43184  
  • Name: Disintegrin and metalloproteinase domain containing protein 12 (ADAM 12) (EC 3.4.24. ) (Meltrin alpha)
  • Length: 909  
  • Mass: 99542
  • Tissue specificity: Isoform 1 is expressed in placenta and skeletal, cardiac, and smooth muscle. Isoform 2 seems to be expressed only in placenta or in embryo and fetus. Both forms were expressed in some tumor cells lines. Not detected in brain, lung, liv
• Sequence:

  MAARPLPVSPARALLLALAGALLAPCEARGVSLWNQGRADEVVSASVGSGDLWIPVKSFDSKNHPEVLNIRLQRE
  SKELIINLERNEGLIASSFTETHYLQDGTDVSLARNYTVILGHCYYHGHVRGYSDSAVSLSTCSGLRGLIVFENE
  SYVLEPMKSATNRYKLFPAKKLKSVRGSCGSHHNTPNLAAKNVFPPPSQTWARRHKRETLKATKYVELVIVADNR
  EFQRQGKDLEKVKQRLIEIANHVDKFYRPLNIRIVLVGVEVWNDMDKCSVSQDPFTSLHEFLDWRKMKLLPRKSH
  DNAQLVSGVYFQGTTIGMAPIMSMCTADQSGGIVMDHSDNPLGAAVTLAHELGHNFGMNHDTLDRGCSCQMAVEK
  GGCIMNASTGYPFPMVFSSCSRKDLETSLEKGMGVCLFNLPEVRESFGGQKCGNRFVEEGEECDCGEPEECMNRC
  CNATTCTLKPDAVCAHGLCCEDCQLKPAGTACRDSSNSCDLPEFCTGASPHCPANVYLHDGHSCQDVDGYCYNGI
  CQTHEQQCVTLWGPGAKPAPGICFERVNSAGDPYGNCGKVSKSSFAKCEMRDAKCGKIQCQGGASRPVIGTNAVS
  IETNIPLQQGGRILCRGTHVYLGDDMPDPGLVLAGTKCADGKICLNRQCQNISVFGVHECAMQCHGRGVCNNRKN
  CHCEAHWAPPFCDKFGFGGSTDSGPIRQADNQGLTIGILVTILCLLAAGFVVYLKRKTLIRLLFTNKKTTIEKLR
  CVRPSRPPRGFQPCQAHLGHLGKGLMRKPPDSYPPKDNPRRLLQCQNVDISRPLNGLNVPQPQSTQRVLPPLHRA
  PRAPSVPARPLPAKPALRQAQGTCKPNPPQKPLPADPLARTTRLTHALARTPGQWETGLRLAPLRPAPQYPHQVP
  RSTHTAYIK

• Structural information:
  • Protein Domains: (214..41-)
    (/note="Peptidase-M12B)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00276-)
    (424..51-)
    (/note="Disintegrin-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00068-)
    (656..68-)
    (/note="EGF-like-)
    (/evidence="ECO:0000255|PROSITE-ProR-)
  • Interpro: IPR006586  IPR018358  IPR001762  IPR036436  IPR000742   IPR024079  IPR001590  IPR002870  IPR034027  
  • Prosite: PS50215 PS00427 PS50214 PS50026 PS00142
  • CDD: cd04269
  • STRING: ENSP00000357668
• Other Databases: GeneCards:  ADAM12  Malacards:  ADAM12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006508	proteolysis	IEA	biological process
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0008237	metallopeptidase activity	TAS	molecular function
GO:0007520	myoblast fusion	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0030198	extracellular matrix organization	TAS	biological process
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:0017124	SH3 domain binding	IPI	molecular function
GO:0017124	SH3 domain binding	IPI	molecular function
GO:0017124	SH3 domain binding	IPI	molecular function
GO:0017124	SH3 domain binding	IPI	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0045766	positive regulation of angiogenesis	IMP	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component

Diseases

Associated diseases	References
Osteoarthritis	PMID:15334463
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