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Gene : ADAMTS18 Homo sapiens

Name  ? ADAM metallopeptidase with thrombospondin type 1 motif 18 Cytological Location  16q23.1
Brief Description  ADAM metallopeptidase with thrombospondin type 1 motif 18
description  This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016]
  • synonyms:
  • NM_001326358,
  • ADAMTS18,
  • AJ311903,
  • OTTHUMG00000137619,
  • a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18,
  • KNO2,
  • MMCAT,
  • ADAMTS21,
  • ADAMTS21,
  • HGNC:17110,
  • uc002ffc.4
  • identifiers:
  • 170692,
  • ENSG00000140873,
  • ADAMTS18

Genome feature

Region: gene ? Length: 152987  
Location: 16:77282128-77435114 reverse strand Cyto location: 16q23.1


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Proteins

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SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

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Other

2011 SN Ps

5 Cross References

17 Data Sets

31 Homologues

0 Located Features

90 Rna Seq Results