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Gene : CAPN3 Homo sapiens

Name  ? calpain 3 Cytological Location  15q15.1
Brief Description  calpain 3
Description  Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. [provided by RefSeq, Jul 2008]
  • synonyms:
  • LGMDD4,
  • LGMDR1,
  • CAPN3,
  • uc001zpp.2,
  • LGMD2,
  • p94,
  • HGNC:1480,
  • OTTHUMG00000130619,
  • CANP3,
  • p94,
  • nCL-1,
  • LGMD2A,
  • CANP3,
  • LGMD2,
  • NM_000070,
  • LGMD2A,
  • nCL-1,
  • X85030,
  • CANPL3
  • identifiers:
  • 825,
  • ENSG00000092529,
  • CAPN3

Genome feature

Region: gene ? Length: 52818  
Location: 15:42359500-42412317 Cyto location: 15q15.1


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Function

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0 Pathways

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

2 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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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

3753 SN Ps

5 Cross References

17 Data Sets

12 Homologues

0 Located Features

97 Rna Seq Results