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Gene : ADAMTSL2 Homo sapiens

Name  ? ADAMTS like 2 Cytological Location  9q34.2
Brief Description  ADAMTS like 2
description  This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) and ADAMTS-like 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) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene lacks the protease domain, and is therefore of a member of the the ADAMTS-like protein subfamily. It is a secreted glycoprotein that binds the cell surface and extracellular matrix; it also interacts with latent transforming growth factor beta binding protein 1. Mutations in this gene have been associated with geleophysic dysplasia. [provided by RefSeq, Feb 2009]
  • synonyms:
  • GPHYSD1,
  • OTTHUMG00000131706,
  • KIAA0605,
  • ADAMTSL2,
  • HGNC:14631,
  • AB011177,
  • uc011mdl.2,
  • ADAMTSL-2,
  • NM_014694
  • identifiers:
  • 9719,
  • ENSG00000197859,
  • ADAMTSL2

Genome feature

Region: gene ? Length: 43356  
Location: 9:133532164-133575519 Cyto location: 9q34.2


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

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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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

187 SN Ps

5 Cross References

17 Data Sets

31 Homologues

0 Located Features

90 Rna Seq Results