ADAMTS12 (ADAM metallopeptidase with thrombospondin type 1 motif 12)

Gene

• Entrez ID: 81792
• Gene name: ADAM metallopeptidase with thrombospondin type 1 motif 12
• Gene symbol: ADAMTS12
• Synonyms: PRO4389
• Chromosome: 5
• Chromosome location: 5p13.3-p13.2
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018249	hsa-miR-335-5p	Microarray	18185580
MIRT029674	hsa-miR-26b-5p	Microarray	19088304

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004222	Function	Metalloendopeptidase activity	IBA	21873635
GO:0004222	Function	Metalloendopeptidase activity	IDA	16611630, 17895370, 18485748
GO:0005515	Function	Protein binding	IPI	16611630, 18485748, 25416956, 31515488
GO:0007160	Process	Cell-matrix adhesion	IMP	21494557
GO:0016477	Process	Cell migration	IMP	21494557
GO:0030167	Process	Proteoglycan catabolic process	IDA	17895370
GO:0030198	Process	Extracellular matrix organization	IBA	21873635
GO:0031012	Component	Extracellular matrix	IBA	21873635
GO:0032331	Process	Negative regulation of chondrocyte differentiation	IDA	22247065
GO:0046872	Function	Metal ion binding	IEA
GO:0050727	Process	Regulation of inflammatory response	IDA	23019333
GO:0051603	Process	Proteolysis involved in cellular protein catabolic process	IDA	16611630
GO:0051603	Process	Proteolysis involved in cellular protein catabolic process	IMP	18485748
GO:0071347	Process	Cellular response to interleukin-1	IMP	18485748
GO:0071356	Process	Cellular response to tumor necrosis factor	IMP	18485748
GO:0071773	Process	Cellular response to BMP stimulus	IDA	22247065
GO:1901509	Process	Regulation of endothelial tube morphogenesis	IDA	17895370
GO:1902203	Process	Negative regulation of hepatocyte growth factor receptor signaling pathway	IDA	17895370
GO:1902548	Process	Negative regulation of cellular response to vascular endothelial growth factor stimulus	IDA	17895370
GO:2001113	Process	Negative regulation of cellular response to hepatocyte growth factor stimulus	IDA	17895370

Other IDs

• MIM: 606184
• HGNC: 14605
• e!Ensembl: ENSG00000151388

Protein

• UniProt ID: P58397
• Protein name: A disintegrin and metalloproteinase with thrombospondin motifs 12 (ADAM-TS 12) (ADAM-TS12) (ADAMTS-12) (EC 3.4.24.-)
• Protein function: Metalloprotease that may play a role in the degradation of COMP. Also cleaves alpha-2 macroglobulin and aggregan. Has anti-tumorigenic properties.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01562	Pep_M12B_propep	53 → 195	Reprolysin family propeptide	Family
  PF01421	Reprolysin	246 → 456	Reprolysin (M12B) family zinc metalloprotease	Domain
  PF17771	ADAM_CR_2	468 → 532	ADAM cysteine-rich domain	Domain
  PF00090	TSP_1	546 → 596	Thrombospondin type 1 domain	Domain
  PF05986	ADAM_spacer1	702 → 813	ADAM-TS Spacer 1	Family
  PF19030	TSP1_ADAMTS	828 → 882		Domain
  PF19030	TSP1_ADAMTS	886 → 943		Domain
  PF19030	TSP1_ADAMTS	948 → 996		Domain
  PF19030	TSP1_ADAMTS	1317 → 1365		Domain
  PF19030	TSP1_ADAMTS	1368 → 1424		Domain
  PF19030	TSP1_ADAMTS	1427 → 1472		Domain
  PF19030	TSP1_ADAMTS	1475 → 1531		Domain

• Sequence:

  MPCAQRSWLANLSVVAQLLNFGALCYGRQPQPGPVRFPDRRQEHFIKGLPEYHVVGPVRV
  DASGHFLSYGLHYPITSSRRKRDLDGSEDWVYYRISHEEKDLFFNLTVNQGFLSNSYIME
  KRYGNLSHVKMMASSAPLCHLSGTVLQQGTRVGTAALSACHGLTGFFQLPHGDFFIEPVK
  KHPLVEGGYHPHIVYRRQKVPETKEPTCGLKDSVNISQKQELWREKWERHNLPSRSLSRR
  SISKERWVETLVVADTKMIEYHGSENVESYILTIMNMVTGLFHNPSIGNAIHIVVVRLIL
  LEEEEQGLKIVHHAEKTLSSFCKWQKSINPKSDLNPVHHDVAVLLTRKDICAGFNRPCET
  LGLSHLSGMCQPHRSCNINEDSGLPLAFTIAHELGHSFGIQHDGKENDCEPVGRHPYIMS
  RQLQYDPTPLTWSKCSEEYITRFLDRGWGFCLDDIPKKKGLKSKVIAPGVIYDVHHQCQL
  QYGPNATFCQEVENVCQTLWCSVKGFCRSKLDAAADGTQCGEKKWCMAGKCITVGKKPES
  IPGGWGRWSPWSHCSRTCGAGVQSAERLCNNPEPKFGGKYCTGERKRYRLCNVHPCRSEA
  PTFRQMQCSEFDTVPYKNELYHWFPIFNPAHPCELYCRPIDGQFSEKMLDAVIDGTPCFE
  GGNSRNVCINGICKMVGCDYEIDSNATEDRCGVCLGDGSSCQTVRKMFKQKEGSGYVDIG
  LIPKGARDIRVMEIEGAGNFLAIRSEDPEKYYLNGGFIIQWNGNYKLAGTVFQYDRKGDL
  EKLMATGPTNESVWIQLLFQVTNPGIKYEYTIQKDGLDNDVEQQMYFWQYGHWTECSVTC
  GTGIRRQTAHCIKKGRGMVKATFCDPETQPNGRQKKCHEKACPPRWWAGEWEACSATCGP
  HGEKKRTVLCIQTMVSDEQALPPTDCQHLLKPKTLLSCNRDILCPSDWTVGNWSECSVSC
  GGGVRIRSVTCAKNHDEPCDVTRKPNSRALCGLQQCPSSRRVLKPNKGTISNGKNPPTLK
  PVPPPTSRPRMLTTPTGPESMSTSTPAISSPSPTTASKEGDLGGKQWQDSSTQPELSSRY
  LISTGSTSQPILTSQSLSIQPSEENVSSSDTGPTSEGGLVATTTSGSGLSSSRNPITWPV
  TPFYNTLTKGPEMEIHSGSGEEREQPEDKDESNPVIWTKIRVPGNDAPVESTEMPLAPPL
  TPDLSRESWWPPFSTVMEGLLPSQRPTTSETGTPRVEGMVTEKPANTLLPLGGDHQPEPS
  GKTANRNHLKLPNNMNQTKSSEPVLTEEDATSLITEGFLLNASNYKQLTNGHGSAHWIVG
  NWSECSTTCGLGAYWRRVECSTQMDSDCAAIQRPDPAKRCHLRPCAGWKVGNWSKCSRNC
  SGGFKIREIQCVDSRDHRNLRPFHCQFLAGIPPPLSMSCNPEPCEAWQVEPWSQCSRSCG
  GGVQERGVFCPGGLCDWTKRPTSTMSCNEHLCCHWATGNWDLCSTSCGGGFQKRTVQCVP
  SEGNKTEDQDQCLCDHKPRPPEFKKCNQQACKKSADLLCTKDKLSASFCQTLKAMKKCSV
  PTVRAECCFSCPQTHITHTQRQRRQRLLQKSKEL

• Sequence length: 1594

Pathways

Reactome:

Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	22322903