CACNB2

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)
End	18,543,557 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	14,992,719 bp
RNA expression pattern
	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
	; ;
	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
	783
	12296
	ENSG00000165995
	ENSMUSG00000057914
	Q08289
	Q8CC27
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
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
	Wikidata
View/Edit Human	View/Edit Mouse

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

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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000165995 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000057914 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Taviaux S, Williams ME, Harpold MM, Nargeot J, Lory P (Sep 1997). "Assignment of human genes for beta 2 and beta 4 subunits of voltage-dependent Ca2+ channels to chromosomes 10p12 and 2q22-q23". Hum Genet. 100 (2): 151–4. doi:10.1007/PL00008704. PMID 9254841. S2CID 5689556.
^ Rosenfeld MR, Wong E, Dalmau J, Manley G, Posner JB, Sher E, Furneaux HM (Jun 1993). "Cloning and characterization of a Lambert-Eaton myasthenic syndrome antigen". Ann Neurol. 33 (1): 113–20. doi:10.1002/ana.410330126. PMID 8494331. S2CID 24241609.
^ "Entrez Gene: CACNB2 calcium channel, voltage-dependent, beta 2 subunit".
^ Cross-Disorder Group of the Psychiatric Genomics Consortium (2013). "Identification of risk loci with shared effects on five major psychiatric disorders: A genome-wide analysis". The Lancet. 381 (9875): 1371–9. doi:10.1016/S0140-6736(12)62129-1. PMC 3714010. PMID 23453885.

External links

GeneReviews/NIH/NCBI/UW entry on Brugada syndrome
CACNB2+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
Human CACNB2 genome location and CACNB2 gene details page in the UCSC Genome Browser.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000165995 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000057914 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9254841-5] Taviaux S, Williams ME, Harpold MM, Nargeot J, Lory P (Sep 1997). "Assignment of human genes for beta 2 and beta 4 subunits of voltage-dependent Ca2+ channels to chromosomes 10p12 and 2q22-q23". Hum Genet. 100 (2): 151–4. doi:10.1007/PL00008704. PMID 9254841. S2CID 5689556.

[pmid8494331-6] Rosenfeld MR, Wong E, Dalmau J, Manley G, Posner JB, Sher E, Furneaux HM (Jun 1993). "Cloning and characterization of a Lambert-Eaton myasthenic syndrome antigen". Ann Neurol. 33 (1): 113–20. doi:10.1002/ana.410330126. PMID 8494331. S2CID 24241609.

[entrez-7] "Entrez Gene: CACNB2 calcium channel, voltage-dependent, beta 2 subunit".

[8] Cross-Disorder Group of the Psychiatric Genomics Consortium (2013). "Identification of risk loci with shared effects on five major psychiatric disorders: A genome-wide analysis". The Lancet. 381 (9875): 1371–9. doi:10.1016/S0140-6736(12)62129-1. PMC 3714010. PMID 23453885.

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CACNB2

CACNB2

CACNB2

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CACNB2

Clinical significance

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