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ADAMTS12 - ADAM metallopeptidase with thrombospondin type 1 motif 12 Gene

Also Known as PRO4389

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 81792

About ADAMTS12

Cytogenetic location: 5p13.3-p13.2 Genomic coordinates (GRCh38): 5:33,523,535-33,891,990 (from NCBI)

This gene has 6 transcripts (splice variants), 1 gene allele, 209 orthologues and 25 paralogues. Broad expression in fat (RPKM 3.5), gall bladder (RPKM 2.0) and 19 other tissues.

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 disintegrin-like domain, and a thrombospondin type 1 (TS-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. [provided by RefSeq, Jul 2008]

ADAMTS12 Products (3)

mRNA	Protein	Name
NM_001324511.2	NP_001311440.1	A disintegrin and metalloproteinase with thrombospondin motifs 12 isoform 2 precursor
NM_001324512.2	NP_001311441.1	A disintegrin and metalloproteinase with thrombospondin motifs 12 isoform 3 precursor
NM_030955.4	NP_112217.2	A disintegrin and metalloproteinase with thrombospondin motifs 12 isoform 1 preproprotein

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables metalloendopeptidase activity	IDA IDA: Inferred from direct assay	16611630	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16611630	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cell migration	IMP IMP: Inferred from mutant phenotype	21494557	GOA
involved in cell-matrix adhesion	IMP IMP: Inferred from mutant phenotype	21494557	GOA
involved in cellular response to BMP stimulus	IDA IDA: Inferred from direct assay	22247065	GOA
involved in cellular response to interleukin-1	IMP IMP: Inferred from mutant phenotype	18485748	GOA
involved in cellular response to tumor necrosis factor	IMP IMP: Inferred from mutant phenotype	18485748	GOA
involved in negative regulation of cellular response to hepatocyte growth factor stimulus	IDA IDA: Inferred from direct assay	17895370	GOA
involved in negative regulation of cellular response to vascular endothelial growth factor stimulus	IDA IDA: Inferred from direct assay	17895370	GOA
involved in negative regulation of chondrocyte differentiation	IDA IDA: Inferred from direct assay	22247065	GOA
involved in negative regulation of hepatocyte growth factor receptor signaling pathway	IDA IDA: Inferred from direct assay	17895370	GOA
involved in proteoglycan catabolic process	IDA IDA: Inferred from direct assay	17895370	GOA
involved in proteolysis involved in protein catabolic process	IDA IDA: Inferred from direct assay	16611630	GOA
involved in proteolysis involved in protein catabolic process	IMP IMP: Inferred from mutant phenotype	18485748	GOA
involved in regulation of endothelial tube morphogenesis	IDA IDA: Inferred from direct assay	17895370	GOA
involved in regulation of inflammatory response	IDA IDA: Inferred from direct assay	23019333	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ADAMTS12 Protein Structure

Pep_M12B_propep

Reprolysin

TSP_1

ADAM_spacer1

TSP_1

0
300
600
900
1200
1500
1594 a.a.

Protein Preferred Names	Protein Names
A disintegrin and metalloproteinase with thrombospondin motifs 12	ADAM-TS 12

ADAMTS12 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ADAMTS12	P58397	HEL-S-72	Homo sapiens	B4DJ51	Y2H Array	25416956
Intra	ADAMTS12	P58397	COMP	Homo sapiens	P49747	Protease Assay	18485748
Intra	ADAMTS12	P58397	COMP	Homo sapiens	P49747	Anti Tag CoIP	16611630
Intra	ADAMTS12	P58397	MYL6	Homo sapiens	P60660	Y2H Array	31515488
Intra	ADAMTS12	P58397	MYL6	Homo sapiens	P60660	Validated Y2H	25416956
Intra	ADAMTS12	P58397	MEOX2	Homo sapiens	P50222	Validated Y2H	25416956
Intra	ADAMTS12	P58397	MEOX2	Homo sapiens	P50222	Y2H Prey Pooling	25416956
Cross	ADAMTS12	P58397	Comp	Mus musculus	Q9R0G6	Y2H	16611630

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Brachydactyly, Type A1, B	BDA1B Brachydactyly Type A1b
Chromosome 5p13 Duplication Syndrome	5p13 Microduplication Syndrome Trisomy 5p13 Dup(5)(P13)
Arthritis	Inflammatory Joint Disease Inflammatory Disorder Of Joint

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-162284	BAY-9835	Antagonist	99.46%	Unkown
HY-RS00293	ADAMTS12 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20662	Adamts12 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27173	Adamts12 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ADAMTS12	VGNC	VGNC:25616
Canis familiaris	ADAMTS12	VGNC	VGNC:50867
Rattus norvegicus	ADAMTS12	RGD	RGD:1307323
Macaca mulatta	ADAMTS12	VGNC	VGNC:69398
Felis catus	ADAMTS12	VGNC	VGNC:102152
Mus musculus	ADAMTS12	MGD	MGI:2146046
Others	ADAMTS12	NCBI