• Gene id: 81792

Gene Summary

• Gene Symbol: ADAMTS12   Gene   UCSC   Ensembl
• Aliases: PRO4389
• Gene name: ADAM metallopeptidase with thrombospondin type 1 motif 12
• Alternate names: A disintegrin and metalloproteinase with thrombospondin motifs 12, ADAM-TS 12, ADAM-TS12, ADAMTS-12, a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12,
• Gene location: 5p13.3-p13.2 (33892179: 33523534)     Exons: 27     NC_000005.10
• Gene summary(Entrez): This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegri

Protein Summary

• Protein general information: P58397  
  • Name: A disintegrin and metalloproteinase with thrombospondin motifs 12 (ADAM TS 12) (ADAM TS12) (ADAMTS 12) (EC 3.4.24. )
  • Length: 1594  
  • Mass: 177676
  • Tissue specificity: Expressed in skeletal muscle and fat. Detected at significant levels in fetal lung. Widely expressed in gastric carcinomas and in cancer cells of diverse origin. {ECO
• Sequence:

  MPCAQRSWLANLSVVAQLLNFGALCYGRQPQPGPVRFPDRRQEHFIKGLPEYHVVGPVRVDASGHFLSYGLHYPI
  TSSRRKRDLDGSEDWVYYRISHEEKDLFFNLTVNQGFLSNSYIMEKRYGNLSHVKMMASSAPLCHLSGTVLQQGT
  RVGTAALSACHGLTGFFQLPHGDFFIEPVKKHPLVEGGYHPHIVYRRQKVPETKEPTCGLKDSVNISQKQELWRE
  KWERHNLPSRSLSRRSISKERWVETLVVADTKMIEYHGSENVESYILTIMNMVTGLFHNPSIGNAIHIVVVRLIL
  LEEEEQGLKIVHHAEKTLSSFCKWQKSINPKSDLNPVHHDVAVLLTRKDICAGFNRPCETLGLSHLSGMCQPHRS
  CNINEDSGLPLAFTIAHELGHSFGIQHDGKENDCEPVGRHPYIMSRQLQYDPTPLTWSKCSEEYITRFLDRGWGF
  CLDDIPKKKGLKSKVIAPGVIYDVHHQCQLQYGPNATFCQEVENVCQTLWCSVKGFCRSKLDAAADGTQCGEKKW
  CMAGKCITVGKKPESIPGGWGRWSPWSHCSRTCGAGVQSAERLCNNPEPKFGGKYCTGERKRYRLCNVHPCRSEA
  PTFRQMQCSEFDTVPYKNELYHWFPIFNPAHPCELYCRPIDGQFSEKMLDAVIDGTPCFEGGNSRNVCINGICKM
  VGCDYEIDSNATEDRCGVCLGDGSSCQTVRKMFKQKEGSGYVDIGLIPKGARDIRVMEIEGAGNFLAIRSEDPEK
  YYLNGGFIIQWNGNYKLAGTVFQYDRKGDLEKLMATGPTNESVWIQLLFQVTNPGIKYEYTIQKDGLDNDVEQQM
  YFWQYGHWTECSVTCGTGIRRQTAHCIKKGRGMVKATFCDPETQPNGRQKKCHEKACPPRWWAGEWEACSATCGP
  HGEKKRTVLCIQTMVSDEQALPPTDCQHLLKPKTLLSCNRDILCPSDWTVGNWSECSVSCGGGVRIRSVTCAKNH
  DEPCDVTRKPNSRALCGLQQCPSSRRVLKPNKGTISNGKNPPTLKPVPPPTSRPRMLTTPTGPESMSTSTPAISS
  PSPTTASKEGDLGGKQWQDSSTQPELSSRYLISTGSTSQPILTSQSLSIQPSEENVSSSDTGPTSEGGLVATTTS
  GSGLSSSRNPITWPVTPFYNTLTKGPEMEIHSGSGEEREQPEDKDESNPVIWTKIRVPGNDAPVESTEMPLAPPL
  TPDLSRESWWPPFSTVMEGLLPSQRPTTSETGTPRVEGMVTEKPANTLLPLGGDHQPEPSGKTANRNHLKLPNNM
  NQTKSSEPVLTEEDATSLITEGFLLNASNYKQLTNGHGSAHWIVGNWSECSTTCGLGAYWRRVECSTQMDSDCAA
  IQRPDPAKRCHLRPCAGWKVGNWSKCSRNCSGGFKIREIQCVDSRDHRNLRPFHCQFLAGIPPPLSMSCNPEPCE
  AWQVEPWSQCSRSCGGGVQERGVFCPGGLCDWTKRPTSTMSCNEHLCCHWATGNWDLCSTSCGGGFQKRTVQCVP
  SEGNKTEDQDQCLCDHKPRPPEFKKCNQQACKKSADLLCTKDKLSASFCQTLKAMKKCSVPTVRAECCFSCPQTH
  ITHTQRQRRQRLLQKSKEL

• Structural information:
  • Protein Domains: (246..45-)
    (/note="Peptidase-M12B)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00276-)
    (465..54-)
    (/note="Disintegrin-)
    (542..59-)
    1 (/note="TSP-type-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00210-)
    (823..88-)
    (/note="TSP-typ)
  • Interpro: IPR041645  IPR010294  IPR013273  IPR024079  IPR001590   IPR002870  IPR010909  IPR000884  IPR036383  
  • Prosite: PS50215 PS50900 PS50092 PS00142
  • STRING: ENSP00000422554
• Other Databases: GeneCards:  ADAMTS12  Malacards:  ADAMTS12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0008237	metallopeptidase activity	IEA	molecular function
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004222	metalloendopeptidase activity	IDA	molecular function
GO:0004222	metalloendopeptidase activity	IDA	molecular function
GO:0004222	metalloendopeptidase activity	IDA	molecular function
GO:0050727	regulation of inflammatory response	IDA	biological process
GO:0051603	proteolysis involved in cellular protein catabolic process	IDA	biological process
GO:0071773	cellular response to BMP stimulus	IDA	biological process
GO:1901509	regulation of endothelial tube morphogenesis	IDA	biological process
GO:1902203	negative regulation of hepatocyte growth factor receptor signaling pathway	IDA	biological process
GO:1902548	negative regulation of cellular response to vascular endothelial growth factor stimulus	IDA	biological process
GO:2001113	negative regulation of cellular response to hepatocyte growth factor stimulus	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030167	proteoglycan catabolic process	IDA	biological process
GO:0032331	negative regulation of chondrocyte differentiation	IDA	biological process
GO:0007160	cell-matrix adhesion	IMP	biological process
GO:0016477	cell migration	IMP	biological process
GO:0051603	proteolysis involved in cellular protein catabolic process	IMP	biological process
GO:0071356	cellular response to tumor necrosis factor	IMP	biological process
GO:0071347	cellular response to interleukin-1	IMP	biological process

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