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GeneQ17854978· pop 5· linked from 356 articles

CACNB2

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Also known as CACNLB2, CAVB2, MYSB, calcium voltage-gated channel auxiliary subunit beta 2, CAB2

Voltage-dependent L-type calcium channel subunit beta-2 is a protein that in humans is encoded by the CACNB2 gene.

Gene data

CACNB2
Name
calcium voltage-gated channel auxiliary subunit beta 2
Type
protein-coding
Position
18,140,322–18,543,557 (+)
Aliases
CAB2, CACNLB2, CAVB2, MYSB
Ensembl
ENSG00000165995
RefSeq RNA
NM_000724.4, NM_001167945.2, NM_001330060.2, NM_001410882.1, NM_201570.3
RefSeq protein
NP_000715.2, NP_001161417.1, NP_001316989.1, NP_001397811.1, NP_963864.1

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].

Gene Ontology

Pathways

MAPK signaling pathway - Homo sapiens (human)Cardiac muscle contraction - Homo sapiens (human)Adrenergic signaling in cardiomyocytes - Homo sapiens (human)Oxytocin signaling pathway - Homo sapiens (human)Hypertrophic cardiomyopathy - Homo sapiens (human)Arrhythmogenic right ventricular cardiomyopathy - Homo sapiens (human)Dilated cardiomyopathy - Homo sapiens (human)Presynaptic depolarization and calcium channel openingTransmission across Chemical SynapsesNeuronal System

via MyGene.info

Gene · Ensembl

calcium voltage-gated channel auxiliary subunit beta 2

Symbol
CACNB2
Biotype
Protein coding
Organism
Homo sapiens
Location
10:18,140,322-18,543,557
Strand
Forward (+)
Assembly
GRCh38
View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of
gene
Image
Protein CACNB2 PDB 1t0h.png
Show 8 more facts
HomoloGene ID
75191
found in taxon
Homo sapiens
exact match
identifiers.org/ncbigene/783
genomic end
18543557
genomic start
18140424
chromosome
human chromosome 10
cytogenetic location
10p12.33-p12.31
expressed in
right ventricle
Sources (3)

via Wikidata · CC0

~1 min read

Encyclopedic overview

5 sections
Contents
  • Clinical significance
  • See also
  • References
  • Further reading
  • External links

Voltage-dependent L-type calcium channel subunit beta-2 is a protein that in humans is encoded by the CACNB2 gene.

== Clinical significance ==

Excerpted from Wikipedia’s “CACNB2” article, available under the CC BY-SA 4.0 licence.

Available in 4 languages

via Wikidata sitelinks · CC0