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Gene : CACNB2 Homo sapiens

Name  ? calcium voltage-gated channel auxiliary subunit beta 2 Cytological Location  10p12.33-p12.31
Brief Description  calcium voltage-gated channel auxiliary subunit beta 2
Description  This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013]
  • synonyms:
  • HGNC:1402,
  • MYSB,
  • NM_000724,
  • uc001ipr.3,
  • MYSB,
  • CACNLB2,
  • CAVB2,
  • CACNB2,
  • OTTHUMG00000017764,
  • CACNLB2,
  • calcium channel, voltage-dependent, beta 2 subunit,
  • U95019,
  • CAB2
  • identifiers:
  • 783,
  • ENSG00000165995,
  • CACNB2

Genome feature

Region: gene ? Length: 405458  
Location: 10:18140424-18545881 Cyto location: 10p12.33-p12.31


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Function

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Genomics

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Proteins

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SNPs

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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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Expression

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Other

3756 SN Ps

5 Cross References

20 Data Sets

10 Homologues

0 Located Features

97 Rna Seq Results