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Protein Coding Gene : Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif 2

Primary Identifier  MGI:1347356 Organism  mouse, laboratory
Chromosome  11 NCBI Gene Number  216725
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables peptidase activity. Acts upstream of or within several processes, including collagen fibril organization; protein processing; and spermatogenesis. Located in extracellular matrix. Is expressed in several structures, including brain and visceral pericardium. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome and Ehlers-Danlos syndrome dermatosparaxis type. Orthologous to human ADAMTS2 (ADAM metallopeptidase with thrombospondin type 1 motif 2).
PHENOTYPE: Homozygous mutation of this gene results in a short snout, male infertility, and thin skin that is torn by scratching or handling. [provided by MGI curators]
  • synonyms:
  • procollagen N-proteinase,
  • ADAM-TS2,
  • Adamts2,
  • hPCPNI,
  • a disintegrin and metalloproteinase with thrombospondin repeats,
  • ADAM metallopeptidase with thrombospondin type 1 motif 2

Features --> Cross References

Genome

Sequence Feature Displayer

JG Browse Displayer

0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

1 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

7 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For