help  | about  | cite  | software

Gene : CTSK Homo sapiens

Name  ? cathepsin K Cytological Location  1q21.3
Brief Description  cathepsin K
description  The protein encoded by this gene is a lysosomal cysteine proteinase involved in bone remodeling and resorption. This protein, which is a member of the peptidase C1 protein family, is predominantly expressed in osteoclasts. However, the encoded protein is also expressed in a significant fraction of human breast cancers, where it could contribute to tumor invasiveness. Mutations in this gene are the cause of pycnodysostosis, an autosomal recessive disease characterized by osteosclerosis and short stature. [provided by RefSeq, Apr 2013]
  • synonyms:
  • PYCD,
  • CTSO2,
  • CTSK,
  • CTS02,
  • BC016058,
  • PKND,
  • CTSO2,
  • HGNC:2536,
  • PYCD,
  • cathepsin K (pycnodysostosis),
  • CTSO,
  • NM_000396,
  • CTSO,
  • PKND,
  • OTTHUMG00000035008,
  • uc001evp.3,
  • CTSO1
  • identifiers:
  • 1513,
  • ENSG00000143387,
  • CTSK

Genome feature

Region: gene ? Length: 12234  
Location: 1:150796208-150808441 reverse strand Cyto location: 1q21.3


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

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

Homologue Displayer

Gene --> Orthologues

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

2011 SN Ps

5 Cross References

18 Data Sets

21 Homologues

0 Located Features

90 Rna Seq Results