1. Gene
  2. ADAMTS12 - ADAM metallopeptidase with thrombospondin type 1 motif 12 Gene

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

ADAMTS12 Protein Structure

Pep_M12B_propep

Pep_M12B_propep: Reprolysin family propeptide (52 - 195)

Reprolysin

Reprolysin: Reprolysin (M12B) family zinc metalloprotease (246 - 456)

TSP_1

TSP_1: Thrombospondin type 1 domain (547 - 596)

ADAM_spacer1

ADAM_spacer1: ADAM-TS Spacer 1 (702 - 813)

TSP_1

TSP_1: Thrombospondin type 1 domain (831 - 882)

TSP_1

TSP_1: Thrombospondin type 1 domain (889 - 913)

TSP_1

TSP_1: Thrombospondin type 1 domain (951 - 996)

TSP_1

TSP_1: Thrombospondin type 1 domain (1320 - 1365)

TSP_1

TSP_1: Thrombospondin type 1 domain (1371 - 1394)

TSP_1

TSP_1: Thrombospondin type 1 domain (1430 - 1472)

TSP_1

TSP_1: Thrombospondin type 1 domain (1477 - 1531)

  • 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

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