ADAMTS12 - ADAM metallopeptidase with thrombospondin type 1 motif 12 Gene

Homo sapiens

Also known as PRO4389

Gene ID: 81792 | Gene type: protein coding

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	Reference	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	Reference	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

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

Bioactive Molecules (2)

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 Sets	/	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

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