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Gene : CASQ2 Homo sapiens

Name  ? calsequestrin 2 Cytological Location  1p13.1
Brief Description  calsequestrin 2
Description  The protein encoded by this gene specifies the cardiac muscle family member of the calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in cardiac and slow skeletal muscle cells. The protein is a calcium binding protein that stores calcium for muscle function. Mutations in this gene cause stress-induced polymorphic ventricular tachycardia, also referred to as catecholaminergic polymorphic ventricular tachycardia 2 (CPVT2), a disease characterized by bidirectional ventricular tachycardia that may lead to cardiac arrest. [provided by RefSeq, Jul 2008]
  • synonyms:
  • OTTHUMG00000011970,
  • BC022288,
  • CASQ2,
  • NM_001232,
  • PDIB2,
  • uc001efx.5,
  • calsequestrin 2 (cardiac muscle),
  • HGNC:1513,
  • PDIB2
  • identifiers:
  • 845,
  • ENSG00000118729,
  • CASQ2

Genome feature

Region: gene ? Length: 68803  
Location: 1:115700003-115768805 reverse strand Cyto location: 1p13.1


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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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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Expression

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

Gene Ontology

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Other

3756 SN Ps

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results