CACNB2

Voltage-dependent L-type calcium channel subunit beta-2 is a protein that in humans is encoded by the CACNB2 gene.^[5][6][7]

CACNB2
Identifiers
Aliases	CACNB2, CACNLB2, CAVB2, MYSB, calcium voltage-gated channel auxiliary subunit beta 2, CAB2
External IDs	OMIM: 600003; MGI: 894644; HomoloGene: 75191; GeneCards: CACNB2; OMA:CACNB2 - orthologs
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10p12.33-p12.31 Start 18,140,424 bp[1] End 18,543,557 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 A2|2 10.7 cM Start 14,607,899 bp[2] End 14,992,719 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastric mucosa buccal mucosa cell frontal pole myocardium of left ventricle middle temporal gyrus Brodmann area 46 Brodmann area 10 orbitofrontal cortex cardiac muscle tissue of right atrium right ventricle Top expressed in neural layer of retina medial dorsal nucleus lumbar subsegment of spinal cord medial geniculate nucleus dentate gyrus of hippocampal formation granule cell inner nuclear layer lateral geniculate nucleus superior frontal gyrus myocardium of ventricle cardiac muscles More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium channel activity voltage-gated ion channel activity high voltage-gated calcium channel activity protein binding voltage-gated calcium channel activity involved in AV node cell action potential voltage-gated calcium channel activity voltage-gated calcium channel activity involved in cardiac muscle cell action potential actin filament binding voltage-gated calcium channel activity involved in positive regulation of presynaptic cytosolic calcium levels Cellular component L-type voltage-gated calcium channel complex membrane plasma membrane integral component of plasma membrane sarcolemma voltage-gated calcium channel complex photoreceptor ribbon synapse presynapse Biological process regulation of voltage-gated calcium channel activity calcium ion import regulation of ion transmembrane transport ion transport neuromuscular junction development calcium ion transmembrane transport calcium ion transport visual perception positive regulation of calcium ion transport chemical synaptic transmission positive regulation of high voltage-gated calcium channel activity regulation of heart rate by cardiac conduction membrane depolarization during atrial cardiac muscle cell action potential membrane depolarization during AV node cell action potential positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel protein localization to plasma membrane positive regulation of presynaptic cytosolic calcium concentration induction of synaptic vesicle exocytosis by positive regulation of presynaptic cytosolic calcium ion concentration cardiac conduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 783 12296 Ensembl ENSG00000165995 ENSMUSG00000057914 UniProt Q08289 Q8CC27 RefSeq (mRNA) NM_000724 NM_001167945 NM_201570 NM_201571 NM_201572 NM_201590 NM_201593 NM_201596 NM_201597 NM_001330060 NM_001252533 NM_023116 NM_001309519 RefSeq (protein) NP_000715 NP_001161417 NP_001316989 NP_963864 NP_963865 NP_963866 NP_963884 NP_963887 NP_963890 NP_963891 NP_001239462 NP_001296448 NP_075605 NP_001393019 NP_001393020 NP_001393021 NP_001393022 NP_001393023 NP_001393024 NP_001393025 NP_001393026 NP_001393027 Location (UCSC) Chr 10: 18.14 – 18.54 Mb Chr 2: 14.61 – 14.99 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Clinical significance

Mutation in the CACNB2 gene are associated with Brugada syndrome, autism, attention deficit-hyperactivity disorder (ADHD), bipolar disorder, major depressive disorder, and schizophrenia.^[8]

See also

• Voltage-dependent calcium channel