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CACNB2

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From Wikipedia, the free encyclopedia

Protein-coding gene in humans

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	18,140,424bp^[1]
Band	10p12.33-p12.31	End	18,543,557bp^[1]

Gene location (Mouse)

Chr.	Chromosome 2 (mouse)^[2]

Band	2 A2\|2 10.7 cM	Start	14,607,899bp^[2]
Band	2 A2\|2 10.7 cM	End	14,992,719bp^[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

Voltage-dependent L-type calcium channel subunit beta-2 is aprotein that in humans is encoded by theCACNB2gene.^[5]^[6]^[7]

Clinical significance

[edit]

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

References

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000165995 –Ensembl, May 2017
^^a ^b ^cGRCm38: 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

[edit]

GeneReviews/NIH/NCBI/UW entry on Brugada syndrome
CACNB2+protein,+human at the U.S. National Library of MedicineMedical Subject Headings (MeSH)
HumanCACNB2 genome location andCACNB2 gene details page in theUCSC Genome Browser.

v t e PDB gallery
1t0h: Crystal structure of the Rattus norvegicus voltage gated calcium channel beta subunit isoform 2a 1t0j: Crystal structure of a complex between voltage-gated calcium channel beta2a subunit and a peptide of the alpha1c subunit

Membrane transport protein:ion channels (TC 1A)

Ca²⁺:Calcium channel

Ligand-gated	Inositol trisphosphate receptor 1 2 3 Ryanodine receptor 1 2 3
Voltage-gated	L-type/Ca_vα 1.1 1.2 1.3 1.4 N-type/Ca_vα2.2 P-type/Ca_vα 2.1 Q-type/Ca_vα2.1 R-type/Ca_vα2.3 T-type/Ca_vα 3.1 3.2 3.3 α₂δ-subunits 1 2 β-subunits β1 β2 β3 β4 γ-subunits γ1 γ2 γ3 γ4 Cation channels of sperm 1 2 3 4 Two-pore channel 1 2

Na⁺:Sodium channel

Constitutively active	Epithelial sodium channel α β γ δ
Proton-gated	Amiloride-sensitive cation channel 1 2 3 4
Voltage-gated	Na_vα 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 1.9 7A Na_vβ 1 2 3 4

K⁺:Potassium channel

Calcium-activated	BK channel α1 β1 β2 β3 β4 SK channel SK1 SK2 SK3 IK channel IK1 K_Ca 1.1 2.1 2.2 2.3 3.1 4.1 4.2 5.1
Inward-rectifier	K_ATP K_ir 1.1 2.1 2.2 2.3 2.4 2.6 GIRK/K_ir 3.1 3.2 3.3 3.4 K_ir 4.1 4.2 5.1 6.1 6.2 7.1
Tandem pore domain	K2P 1 2 3 4 5 6 7 9 10 12 13 15 16 17 18
Voltage-gated	K_vα1-6 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 2.1 2.2 3.1 3.2 3.3 3.4 4.1 4.2 4.3 5.1 6.1 6.2 6.3 6.4 K_vα7-12 7.1 7.2 7.3 7.4 7.5 8.1 8.2 9.1 9.2 9.3 10.1 10.2 11.1/hERG 11.2 11.3 12.1 12.2 12.3 K_vβ 1 2 3 KCNIP 1 2 3 4 minK/ISK minK/ISK-like MiRP 1 2 3 Shaker (gene)

Miscellaneous

Cl⁻:Chloride channel	Calcium-activated chloride channels Anoctamin ANO1 Bestrophin 1 2 Chloride Channel Accessory 1 2 3 4 CFTR CLCN 1 2 3 4 5 6 7 KA KB CLIC 1 2 3 4 5 6 L1 CLNS 1A 1B
H⁺:Proton channel	HVCN1
M⁺:CNG cation channel	α 1 2 3 4 β 1 2 3 HCN FC 1 2 3 4
M⁺:TRP cation channel	TRPA (1) TRPC 1 2 3 4 4AP 5 6 7 TRPM 1 2 3 4 5 6 7 8 TRPML 1 2 3 TRPN TRPP 1 2 TRPV 1 2 3 4 5 6
H₂O (+solutes):Porin	Aquaporin 0 1 2 3 4 5 6 7 8 9 Voltage-dependent anion channel 1 2 3 General bacterial porin family
Cytoplasm:Gap junction	Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin