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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CACNB2 Gene

protein-coding GIFtS: 65
GCID: GC10P018469

calcium channel, voltage-dependent, beta 2 subunit

(Previous symbols: MYSB, CACNLB2)

Explore 13 diseases affiliated with
CACNB2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Calcium Channel, Voltage-Dependent, Beta 2 Subunit¹ ²		CAB2² ³
CACNLB2¹ ² ³		CAVB2²
MYSB¹ ² ³		Myasthenic (Lambert-Eaton) Syndrome Antigen B²
Calcium Channel Voltage-Dependent Subunit Beta 2² ³		Voltage-Dependent L-Type Calcium Channel Subunit Beta-2²
Lambert-Eaton Myasthenic Syndrome Antigen B² ³

External Ids:	HGNC: 1402¹	Entrez Gene: 783²	Ensembl: ENSG00000165995⁷	OMIM: 600003⁵	UniProtKB: Q08289³

ORGUL members:
	NONCODE:n339991

Export aliases for CACNB2 gene to outside databases

Previous GC identifers: GC10P018165 GC10P018266 GC10P018579 GC10P018433

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CACNB2:

This gene encodes a subunit of a voltage-dependent calcium channel protein which 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 which is an autoimmune disorder. Mutations in this gene are associated with Brugada symdrome.

Alternatively spliced variants have been identified for this gene. (provided by RefSeq, Nov 2009)

UniProtKB/Swiss-Prot: CACB2_HUMAN, Q08289

Function: The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by

increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G

protein inhibition and controlling the alpha-1 subunit membrane targeting

Gene Wiki entry for CACNB2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000010.10 NC_018921.1 NT_008705.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CACNB2 gene promoter:
COUP-TF1 LHX3b/Lhx3b COUP Lmo2 HNF-4alpha1 COUP-TF FOXO4 LHX3a/Lhx3a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CACNB2 promoter sequence

Search SABiosciences Chromatin IP Primers for CACNB2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CACNB2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10p12 Ensembl cytogenetic band: 10p12.33 HGNC cytogenetic band: 10p12

CACNB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CACNB2 gene location

GeneLoc information about chromosome 10 GeneLoc Exon Structure

GeneLoc location for GC10P018469: view genomic region (about GC identifiers)

Start:	18,429,606 bp from pter	End:	18,830,798 bp from pter
Size:	401,193 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CACB2_HUMAN, Q08289 (See protein sequence)

Recommended Name: Voltage-dependent L-type calcium channel subunit beta-2

Size: 660 amino acids; 73581 Da

Subunit: The L-type calcium channel is composed of four subunits: alpha-1, alpha-2, beta and gamma. Interacts with

CAMK2D (By similarity). Interacts with RRAD. Interaction with RRAD regulates the trafficking of CACNA1C to the cell

membrane. Interacts with TMIGD2

Subcellular location: Cell membrane, sarcolemma; Peripheral membrane protein; Cytoplasmic side (By similarity)

Sequence caution: Sequence=AAB51370.1; Type=Frameshift; Positions=515;

Secondary accessions: A6PVM5 A6PVM7 A6PVM8 O00304 Q5VVG9 Q5VVH0 Q5VWV6 Q6TME2 Q8WX81 Q96NZ3 Q96NZ4

Q96NZ5 Q9BWU2 Q9HD32 Q9Y340 Q9Y341

Alternative splicing: 9 isoforms: Q08289-1 Q08289-2 Q08289-3 Q08289-4 Q08289-5 Q08289-6 Q08289-7 Q08289-8

Q08289-9

Explore the universe of human proteins at neXtProt for CACNB2: NX_Q08289

Post-translational modifications:

Regulated through phosphorylation at Thr-554 by CaMK2D (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q08289

CACNB2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (9 alternative transcripts):

NP_000715.2 NP_001161417.1 NP_963864.1 NP_963865.2 NP_963866.2 NP_963884.2 NP_963887.2 NP_963890.2

NP_963891.1

ENSEMBL proteins:

ENSP00000320025 ENSP00000344474 ENSP00000366545 ENSP00000282343 ENSP00000366548

ENSP00000379821 ENSP00000366536 ENSP00000366546 ENSP00000366532

Reactome Protein details: Q08289
Human Recombinant Protein Products:

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	Novus Biologicals CACNB2 Protein Novus Biologicals CACNB2 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005887	integral to plasma membrane	NAS	9594024
GO:0005891	voltage-gated calcium channel complex	IDA	1309651
GO:0042383	sarcolemma	IEA	--

CACNB2 for ontologies About GeneDecksing

CACNB2 Antibody Products:

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	Novus Biologicals CACNB2 Antibodies
	Search for Antibodies for CACNB2 at Abcam
	Browse Antibodies at Uscn
	Search ThermoFisher Antibodies for CACNB2

Assay Products for CACNB2:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for CACNB2
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CACNB2 for domains About GeneDecksing

5 InterPro domains/families:

IPR008144 Guanylate_kin

IPR008145 Guanylate_kin/L-typ_Ca_channel

IPR000584 VDCC_L_bsu

IPR001452 SH3_domain

IPR005444 VDCC_L_b2su

Graphical View of Domain Structure for InterPro Entry Q08289

ProtoNet protein and cluster: Q08289

2 Blocks protein families:

IPB000584 L-type calcium channel beta subunit signature

IPB005444 L-type calcium channel beta-2 subunit signature

UniProtKB/Swiss-Prot: CACB2_HUMAN, Q08289

Similarity: Belongs to the calcium channel beta subunit family

Similarity: Contains 1 SH3 domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CACB2_HUMAN, Q08289

Function: The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by

increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G

protein inhibition and controlling the alpha-1 subunit membrane targeting

Genatlas biochemistry entry for CACNB2:

calcium voltage-gated channel (VDCC),L (long lasting) type,dehydropyridine (DHP) sensitive,beta 2 regulatory

subunit,55kDa

miRNA Products:		OriGene 3'-UTR Clone (see all 8): CACNB2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CACNB2
		8/88 QIAGEN miScript miRNA Assays for microRNAs that regulate CACNB2 (see all 88):
		hsa-miR-3678-3p hsa-miR-300 hsa-miR-128 hsa-miR-4305 hsa-miR-30d hsa-miR-3653 hsa-miR-30a hsa-miR-298

		SwitchGear 3'UTR luciferase reporter plasmid: CACNB2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CACNB2 (see all 7) OriGene shRNA RFP: CACNB2 OriGene siRNA: CACNB2
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for CACNB2

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector (see all 9): CACNB2 (NM_001167945)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CACNB2
		Search LifeMap BioReagents cell lines for CACNB2

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CACNB2

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005245	voltage-gated calcium channel activity	IDA	1309651
GO:0005246	calcium channel regulator activity	--	--
GO:0005262	calcium channel activity	NAS	9594024
GO:0005515	protein binding	IPI	17525370
GO:0008331	contributes to high voltage-gated calcium channel activity	IDA	1309651

CACNB2 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for CACNB2:

Proliferating cells

Animal Models:
Mouse knock-outs for CACNB2: Cacnb2^tm1.1Mfre Cacnb2^tm1Rgg
8 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Cacnb2):

cardiovascular system	craniofacial	embryogenesis	growth/size	homeostasis/metabolism
mortality/aging	nervous system	vision/eye

CACNB2 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/32 super-pathways (see all 32) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

DREAM Repression and Dynorphin Expression

DREAM Repression and Dynorphin Expression	1.00	Caspase Cascade	0.24
BMP Pathway	0.44	Calpain Protease Regulates Cellular Mechanics	0.22
nNOS Signaling in Skeletal Muscle	0.37

PKC-Theta Pathway

PKC-Theta Pathway	1.00	Fc-EpsilonRI Pathway	0.42
TCR Signaling	0.68	PDGF Pathway	0.35
ITK and TCR Signaling	0.54

Sweet Taste Signaling

	Sweet Taste Signaling	1.00			Cellular Effects of Sildenafil	0.46
	Melatonin Signaling	0.72

Activation of cAMP-Dependent PKA

	Activation of cAMP-Dependent PKA	1.00			PKA Signaling	0.56
	cAMP Pathway	0.77

NFAT and Cardiac Hypertrophy

	NFAT and Cardiac Hypertrophy	1.00			IGF1R Signaling	0.37
	Signaling Involved in Cardiac Hypertrophy	0.42

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for CACNB2

Transcription CREB pathway

5/38 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CACNB2 (see all 38)

	Caspase Cascade
	Fc-GammaR Pathway
	Intracellular Calcium Signaling
	PDGF Pathway
	BMP Pathway

1 GeneGo (Thomson Reuters) Pathway for CACNB2

Transcription CREB pathway

1 BioSystems Pathway for CACNB2

Arrhythmogenic right ventricular cardiomyopathy

5/12 Reactome Pathways for CACNB2 (see all 12)

	Developmental Biology
	NCAM1 interactions
	Transmission across Chemical Synapses
	Metabolism
	Regulation of Insulin Secretion

2 PharmGKB Pathways for CACNB2

	Antiarrhythmic Pathway, Pharmacodynamics
	Celecoxib Pathway, Pharmacodynamics

5 Kegg Pathways (Kegg details for CACNB2):

	MAPK signaling pathway
	Cardiac muscle contraction
	Hypertrophic cardiomyopathy (HCM)
	Arrhythmogenic right ventricular cardiomyopathy (ARVC)
	Dilated cardiomyopathy

CACNB2 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for CACNB2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/48 Interacting proteins for CACNB2 (Q08289³ ENSP00000320025⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 48)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CACNA1A	O00555³, ENSP00000353362⁴	I2D: score=1 STRING: ENSP00000353362
CACNA1C	Q13936³, ENSP00000266376⁴	I2D: score=1 STRING: ENSP00000266376
PRKACA	P17612³, ENSP00000309591⁴	I2D: score=1 STRING: ENSP00000309591
REM1	O75628³, ENSP00000201979⁴	I2D: score=1 STRING: ENSP00000201979
CACNA1D	ENSP00000288139⁴	STRING: ENSP00000288139

About this table

Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006810	transport	TAS	9254841
GO:0006816	calcium ion transport	NAS	--
GO:0007268	synaptic transmission	IEA	--
GO:0007411	axon guidance	TAS	--
GO:0007528	neuromuscular junction development	TAS	8494331

CACNB2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CACNB2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CACNB2

2 HMDB Compounds for CACNB2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--
Verapamil	Akilen (see all 107)	52-53-9	--

10/12 DrugBank Compounds for CACNB2 (see all 12) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Nimodipine	Nimodipino [INN-Spanish] (see all 2)	66085-59-4	target	inhibitor	17705883 11752352 20334460 19844625 20661350
Felodipine	Dl-Felodipine (see all 4)	72509-76-3	target	inhibitor	10525060 11752352 17475903
Mibefradil	--	116644-53-2	target	inhibitor	10372226 10665814 16899990
Nilvadipine	--	75530-68-6	target	inhibitor	1283184 7898101 20933604
Magnesium Sulfate	Bitter salt (see all 6)	7487-88-9	target	--	17139284 17016423
Amlodipine	Amlodipine Benzenesulfonate (see all 6)	88150-42-9	target	inhibitor	11752352
Isradipine	(+/-)-Isradipine (see all 5)	75695-93-1	target	inhibitor	11752352
Nicardipine	Nicardipine HCl (see all 3)	55985-32-5	target	inhibitor	11752352
Nifedipine	--	21829-25-4	target	inhibitor	11752352
Nisoldipine	Nisoldipin (see all 3)	63675-72-9	target	inhibitor	11752352

1 Novoseek chemical compound relationship for CACNB2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
calcium	37	3	18419826 (1), 7760845 (1), 11604404 (1)

Search CenterWatch for drugs/clinical trials and news about CACNB2 / CACB2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CACNB2 gene (9 alternative transcripts):

NM_000724.3 NM_001167945.1 NM_201570.2 NM_201571.3 NM_201572.3 NM_201590.2 NM_201593.2 NM_201596.2

NM_201597.2

Unigene Cluster for CACNB2:

Calcium channel, voltage-dependent, beta 2 subunit

Hs.59093 [show with all ESTs]

Unigene Representative Sequence: NM_000724

12 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000324631 ENST00000352115 ENST00000377328 ENST00000468177 ENST00000467034

ENST00000282343(uc010qcl.2) ENST00000377331 ENST00000396576(uc001ipr.2 uc009xjz.1 uc001ips.2 uc001ipt.2 uc001ipu.3 uc001ipv.3 uc009xka.2 uc001ipw.2 uc001ipx.2 uc001ipz.2 uc001ipy.2 uc010qco.1 uc001iqa.2)

ENST00000377319 ENST00000498816 ENST00000377329(uc009xkb.1 uc010qcm.2)

ENST00000377315(uc010qcn.2)

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		8/88 QIAGEN miScript miRNA Assays for microRNAs that regulate CACNB2 (see all 88):
		hsa-miR-3678-3p hsa-miR-300 hsa-miR-128 hsa-miR-4305 hsa-miR-30d hsa-miR-3653 hsa-miR-30a hsa-miR-298

		SwitchGear 3'UTR luciferase reporter plasmid: CACNB2 3' UTR sequence

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CACNB2

Additional cDNA sequence:

AB208917.1 AF137376.1 AF137377.1 AF285239.2 AF423189.1 AF423190.1 AF423191.1 AF423192.1

AF465485.1 AK293837.1 AK293937.1 AK295113.1 AK296471.1 AK299873.1 AK307526.1 AK307800.1

AK310943.1 AK311694.1 AY393858.1 AY393859.1 AY393860.1 AY393861.1 AY393862.1 AY393863.1

AY675091.1 AY675092.1 BC136409.1 S60415.1 U95019.1

17 DOTS entries:

DT.95261241 DT.100752330 DT.95153372 DT.95342579 DT.121242527 DT.121242541 DT.97784962 DT.95332082

DT.92068893 DT.433162 DT.95229156 DT.97839128 DT.121242704 DT.95343623 DT.75116309 DT.91965230

DT.95195856

2 AceView cDNA sequences:

AA470581 AK128769

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for CACNB2 (see all 12) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2	^	3a	·	3b	^	4	^	5	^	6a	·	6b	^	7	^	8	^	9a	·	9b	^	10a	·	10b	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^
SP1:									-				-		-		-		-		-		-		-				-				-								-
SP2:													-		-		-		-		-		-		-				-				-								-
SP3:													-		-		-		-		-		-		-				-				-						-
SP4:																			-		-		-		-				-				-								-
SP5:																							-		-				-				-								-

ExUns:	20	^	21a	·	21b
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for CACNB2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CACNB2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GACCACTGTT

About this image

CACNB2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Outer Nuclear Layer

Mature Rod Cells

Photoreceptors, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CACNB2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CACNB2

SOURCE GeneReport for Unigene cluster: Hs.59093

UniProtKB/Swiss-Prot: CACB2_HUMAN, Q08289

Tissue specificity: Expressed in all tissues

SABiosciences Expression via Pathway-Focused PCR Array including CACNB2:

Neuronal Ion Channels in human mouse rat

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for CACNB2 gene from 6/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Cacnb2^{1 , 5}	calcium channel, voltage-dependent, beta 2 subunit^{1, 5}	90.56(n)¹ 95.31(a)¹		2 (10.70 cM)⁵ 12296¹ NM_023116.4¹ NP_075605.1¹ 14604306⁵
chicken (Gallus gallus)	Aves	CACNB2¹	calcium channel, voltage-dependent, beta 2 subunit	83.79(n) 92(a)		428420 XM_425981.3 XP_425981.3
lizard (Anolis carolinensis)	Reptilia	CACNB2⁶	--	88(a)	1 ↔ 1	6(17733334-17787400)
zebrafish (Danio rerio)	Actinopterygii	cacnb2a¹	calcium channel, voltage-dependent, beta 2a	67.01(n) 73.6(a)		795492 NM_001083568.1 NP_001077037.1
fruit fly (Drosophila melanogaster)	Insecta	Ca-&bgr;³ Ca-beta¹	calcium ion transport voltage-gated calcium channel³ Ca2+-channel-protein-beta-subunit¹	65(a)³ 57.58(n)¹ 60.67(a)¹		34557¹ NM_205962.2¹ NP_995684.2¹
worm (Caenorhabditis elegans)	Secernentea	ccb-1³	calcium channel subunit	63(a)		I(3641606-3646883) --

ENSEMBL Gene Tree for CACNB2 (if available)
TreeFam Gene Tree for CACNB2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CACNB2 gene

CACNB4² CACNB1² CACNB3²

5 SIMAP similar genes for CACNB2 using alignment to 7 protein entries: CACB2_HUMAN (see all proteins):

CAVB2G CACNB3 CACNB1 CACNB4 CAVB2F

CACNB2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 10 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121917812^1,2	C	pathogenic	43070747(+)	`CTCCTC/TAGCCC`	18	S L	mis¹		0	--	--	--	--
rs71497235^1,2	C,	--	18093153(+)	`GCTCAA/CACCTG`	6	--	us2k¹		2		NA	4
rs7900001^1,2	C,	--	18093231(+)	`caacaC/Tggcga`	6	--	us2k¹		0	--	--	--	--
rs61152995^1,2	C,	--	18093319(+)	`GCAGAG/CGCGGG`	6	--	us2k¹		1		WA	2
rs12768873^1,2	C	--	18094599(+)	`TTGTAG/AGCTGC`	6	--	us2k¹		1		NA	2
rs55822580^1,2	F,	--	18094737(+)	`CCCGGC/TTGCCC`	6	--	us2k¹		1		EA	120
rs870651^1,2	C,F,H	--	18095151(-)	`CGCCGC/TGCTCT`	6	--	int¹ ut5¹		8		NA PA MN EA NS	774
rs34405123^1,2	C	--	18095864(+)	`GAGTGTTTG/- CGGTT`	6	--	int¹		1		NA	2
rs67368806^1,2	C	--	18095964(+)	`TTTTTACGTT TTT/-ACGTA`	6	--	int¹		1		NA	2
rs74328093^1,2		--	18095966(+)	`TTTTAC/AGTAAG`	6	--	int¹		1		WA	118

HapMap Linkage Disequilibrium report for CACNB2 (18429606 - 18679606 bp, first 250kb of CACNB2)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 16 variations for CACNB2
10 CNVs: 75135 75131 75139 65608 75132 85130 8641 85128 75133 75138
6 Indels: 70930 65607 39727 43087 11459 11458
Human Gene Mutation Database (HGMD): CACNB2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CACNB2 for disorders           About GeneDecksing

OMIM gene information: 600003
OMIM disorders: 611876
UniProtKB/Swiss-Prot: CACB2_HUMAN, Q08289

Defects in CACNB2 are the cause of Brugada syndrome type 4 (BRGDA4) [MIM:611876]. A heart disease

characterized by the association of Brugada syndrome with shortened QT intervals. Brugada syndrome is a

tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It

can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When

this situation occurs (called ventricular fibrillation), the individual will faint and may die in a few minutes if the

heart is not reset

13 diseases for CACNB2: About MalaCards

lambert-eaton myasthenic syndrome myasthenic syndrome temporal lobe epilepsy brugada syndrome 4

brugada syndrome bipolar i disorder essential hypertension conduction disease

migraine hypertension alzheimer's disease pancreatitis

neuronitis

3 diseases from the University of Copenhagen DISEASES database for CACNB2:

Lambert-Eaton myasthenic syndrome Brugada syndrome Timothy syndrome

Human Genome Epidemiology (HuGE) Navigator: CACNB2 (13 documents)

Export disorders for CACNB2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for CACNB2 gene, integrated from 9 sources (see all 73):
(articles sorted by number of sources associating them with CACNB2)

Utopia: connect your pdf to the dynamic
world of online information

Cloning and characterization of a Lambert-Eaton myasthenic syndrome antigen. (PubMed id 8494331)^{1, 2, 3, 9} Rosenfeld M.R....Furneaux H.M. (1993)
Assignment of human genes for beta 2 and beta 4 subunits of voltage- dependent Ca2+ channels to chromosomes 10p12 and 2q22-q23. (PubMed id 9254841)^{1, 2, 3} Taviaux S.... Lory P. (1997)
Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. (PubMed id 17224476)^{1, 2} Antzelevitch C.... Wolpert C. (2007)
Dominant negative suppression of Rad leads to QT prolongation and causes ventricular arrhythmias via modulation of L-type Ca2+ channels in the heart. (PubMed id 17525370)^{1, 2} Yada H.... Fukuda K. (2007)
Molecular heterogeneity of calcium channel beta-subunits in canine and human heart: evidence for differential subcellular localization. (PubMed id 14762176)^{1, 2} Foell J.D.... Kamp T.J. (2004)
Novel functional properties of Ca(2+) channel beta subunits revealed by their expression in adult rat heart cells. (PubMed id 12042350)^{1, 2} Colecraft H.M....Yue D.T. (2002)
Identification of IGPR-1 as a novel adhesion molecule involved in angiogenesis. (PubMed id 22419821)² Rahimi N....Meyer R.D. (2012)
Brugada-like syndrome in infancy presenting with rapid ventricular tachycardia and intraventricular conduction delay. (PubMed id 22090166)¹ Kanter R.J....Antzelevitch C. (2012)
Use of calcium channel blockers for glaucoma. (PubMed id 20933604)⁷ Araie M. and Mayama C. (2011)
Genetic variations in CYP17A1, CACNB2 and PLEKHA7 are associated with blood pressure and/or hypertension in She ethnic minority of Chi na. (PubMed id 21963141)¹ Lin Y....Chen G. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 783	HGNC: 1402	AceView: CACNB2.1	Ensembl:ENSG00000165995	euGenes: HUgn783
ECgene: CACNB2	Kegg: 783	H-InvDB: CACNB2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CACNB2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CACNB2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for CACNB2 gene:
Search GeneIP for patents involving CACNB2

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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calcium channel, voltage-dependent, beta 2 subunit

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CACNB2 Gene

calcium channel, voltage-dependent, beta 2 subunit

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