Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	81792
Gene name Gene Name - the full gene name approved by the HGNC.	ADAM metallopeptidase with thrombospondin type 1 motif 12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ADAMTS12
Synonyms (NCBI Gene) Gene synonyms aliases	PRO4389
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5p13.3-p13.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(2)

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

Show/Hide all(20)

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

MIM	HGNC	e!Ensembl
606184	14605	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

Tissue specificity

TISSUE SPECIFICITY: Expressed in skeletal muscle and fat. {ECO:0000269|PubMed:16611630}.

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

Interactions

View interactions

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

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	22322903

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Glioblastoma	Glioblastoma	CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587		GWAS, CBGDA

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenocarcinoma of Lung	Associate	39940703
Arthritis Psoriatic	Associate	18485748
Arthritis Rheumatoid	Associate	20506400
Carcinoma Hepatocellular	Associate	37819632
Carcinoma Non Small Cell Lung	Stimulate	39940703
Carcinoma Pancreatic Ductal	Stimulate	32376891
Carcinoma Squamous Cell	Associate	39940703
Complex Regional Pain Syndromes	Associate	31217010
Fibrosis	Associate	37819632
Liver Diseases	Associate	37819632
Neoplasms	Associate	11279086, 34040054, 39940703
Osteoarthritis	Stimulate	14730609
Osteoarthritis	Associate	18485748, 20506400, 27449198, 30903650
Placenta Diseases	Associate	30239759
Prostatic Neoplasms	Associate	34198725
Stomach Neoplasms	Associate	11279086, 34040054
Stroke	Associate	32817637
Urinary Bladder Neoplasms	Associate	37092087
Uterine Diseases	Stimulate	38340595
Venous Thromboembolism	Associate	32817637

ADAMTS12 (ADAM metallopeptidase with thrombospondin type 1 motif 12)