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Gene: CACNB2 (calcium voltage-gated channel auxiliary subunit beta 2) Homo sapiens
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Symbol: CACNB2
Name: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CAB2; CACNLB2; calcium channel voltage-dependent subunit beta 2; calcium channel, voltage-dependent, beta 2 subunit; CAVB2; FLJ23743; lambert-Eaton myasthenic syndrome antigen B; myasthenic (Lambert-Eaton) syndrome antigen B; MYSB; voltage-dependent L-type calcium channel subunit beta-2
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381018,140,424 - 18,545,881 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371018,429,373 - 18,830,688 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361018,469,612 - 18,870,694 (+)NCBINCBI36hg18NCBI36
Build 341018,729,966 - 18,870,044NCBI
Celera1018,116,041 - 18,517,577 (+)NCBI
Cytogenetic Map10p12.33-p12.31NCBI
HuRef1018,094,960 - 18,495,622 (+)NCBIHuRef
CHM1_11018,429,651 - 18,830,663 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated
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Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on CACNB2
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 732576
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-09-12
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.