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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CACNB3 Gene

protein-coding GIFtS: 62
GCID: GC12P049212

calcium channel, voltage-dependent, beta 3 subunit

(Previous symbol: CACNLB3)

Explore 6 diseases affiliated with
CACNB3 via

MalaCards

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Human Malady Compendium

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

Aliases
Calcium Channel, Voltage-Dependent, Beta 3 Subunit¹ ²
CACNLB3¹ ² ³
CAB3² ³
Voltage-Dependent L-Type Calcium Channel Subunit Beta-3²
Calcium Channel Voltage-Dependent Subunit Beta 3³

External Ids:	HGNC: 1403¹	Entrez Gene: 784²	Ensembl: ENSG00000167535⁷	OMIM: 601958⁵	UniProtKB: P54284³

Export aliases for CACNB3 gene to outside databases

Previous GC identifers: GC12M049140 GC12M049209 GC12P048924 GC12P047498 GC12P046245

(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 CACNB3:

This gene encodes a regulatory beta subunit of the voltage-dependent calcium channel. Beta subunits are composed of

five domains, which contribute to the regulation of surface expression and gating of calcium channels and may also

play a role in the regulation of transcription factors and calcium transport. (provided by RefSeq, Oct 2011)

UniProtKB/Swiss-Prot: CACB3_HUMAN, P54284

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 CACNB3

(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_000012.11 NC_018923.1 NT_029419.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CACNB3 gene promoter:
FOXF2 CUTL1 Cdc5 C/EBPalpha CHOP-10 PPAR-gamma1 deltaCREB Sox9 PPAR-gamma2 Pax-4a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CACNB3 promoter sequence

Search SABiosciences Chromatin IP Primers for CACNB3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CACNB3

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

Entrez Gene cytogenetic band: 12q13 Ensembl cytogenetic band: 12q13.12 HGNC cytogenetic band: 12q13

CACNB3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CACNB3 gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12P049212: view genomic region (about GC identifiers)

Start:	49,207,577 bp from pter	End:	49,222,724 bp from pter
Size:	15,148 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: CACB3_HUMAN, P54284 (See protein sequence)

Recommended Name: Voltage-dependent L-type calcium channel subunit beta-3

Size: 484 amino acids; 54532 Da

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

CACNA2D4. Interacts with FASLG

Secondary accessions: A8K0Z4 Q13913

Alternative splicing: 2 isoforms: P54284-1 P54284-2

Explore the universe of human proteins at neXtProt for CACNB3: NX_P54284

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P54284

CACNB3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_000716.2 NP_001193844.1 NP_001193845.1 NP_001193846.1

ENSEMBL proteins:

ENSP00000449389 ENSP00000445495 ENSP00000444160 ENSP00000446611 ENSP00000448074

ENSP00000448137 ENSP00000446529 ENSP00000301050 ENSP00000449497 ENSP00000448304

ENSP00000447462 ENSP00000447261 ENSP00000448076

Reactome Protein details: P54284
Human Recombinant Protein Products:

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	Browse Proteins at Uscn

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	TAS	--
GO:0005891	voltage-gated calcium channel complex	IDA	11160515
GO:0016020	membrane	IDA	16525042
GO:0016324	apical plasma membrane	IEA	--

CACNB3 for ontologies About GeneDecksing

CACNB3 Antibody Products:

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	Browse ELISAs and CLIAs at Uscn

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

CACNB3 for domains About GeneDecksing

5 InterPro domains/families:

IPR008144 Guanylate_kin

IPR008145 Guanylate_kin/L-typ_Ca_channel

IPR008079 VDCC_L_b3su

IPR000584 VDCC_L_bsu

IPR001452 SH3_domain

Graphical View of Domain Structure for InterPro Entry P54284

ProtoNet protein and cluster: P54284

2 Blocks protein families:

IPB000584 L-type calcium channel beta subunit signature

IPB008079 L-type calcium channel beta-3 subunit signature

UniProtKB/Swiss-Prot: CACB3_HUMAN, P54284

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: CACB3_HUMAN, P54284

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 CACNB3:

calcium voltage-gated channel (VDCC),L type,dihydropyridine (DHP) sensitive,beta 3 regulatory subunit,55kDa,expressed

in brain,smooth muscle,ovary

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		hsa-miR-125a-5p hsa-miR-3194-5p hsa-miR-185* hsa-miR-219-5p hsa-miR-1285 hsa-miR-449a hsa-miR-508-3p hsa-miR-125b

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CACNB3

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005245	contributes to voltage-gated calcium channel activity	IDA	11160515
GO:0005515	protein binding	--	--

CACNB3 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for CACNB3:

Synthetic lethal with Ras

Animal Models:
Mouse knock-outs for CACNB3: Cacnb3^tm1Acv Cacnb3^tm1Hssh
7 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Cacnb3):

behavior/neurological	cardiovascular system	homeostasis/metabolism	immune system	muscle
nervous system	vision/eye

CACNB3 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 CACNB3

Transcription CREB pathway

5/38 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CACNB3 (see all 38)

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

1 GeneGo (Thomson Reuters) Pathway for CACNB3

Transcription CREB pathway

3 BioSystems Pathways for CACNB3

	Calcium Regulation in the Cardiac Cell
	Myometrial Relaxation and Contraction Pathways
	Arrhythmogenic right ventricular cardiomyopathy

5/12 Reactome Pathways for CACNB3 (see all 12)

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

1 PharmGKB Pathway for CACNB3

Celecoxib Pathway, Pharmacodynamics

5 Kegg Pathways (Kegg details for CACNB3):

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

CACNB3 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for CACNB3

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

5/50 Interacting proteins for CACNB3 (P54284³ ENSP00000301050⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 50)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CACNA1C	Q13936³, ENSP00000266376⁴	I2D: score=2 STRING: ENSP00000266376
CACNA1B	Q00975³, ENSP00000277549⁴	I2D: score=1 STRING: ENSP00000277549
SYT1	P21579³, ENSP00000261205⁴	I2D: score=2 STRING: ENSP00000261205
FASLG	P48023³, ENSP00000356694⁴	I2D: score=1 STRING: ENSP00000356694
YWHAB	P31946³	I2D: score=1

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006810	transport	TAS	8119293
GO:0006816	calcium ion transport	IDA	11160515
GO:0007268	synaptic transmission	TAS	--
GO:0007411	axon guidance	TAS	--
GO:0050852	T cell receptor signaling pathway	IEA	--

CACNB3 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

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CACNB3

2 HMDB Compounds for CACNB3 About this table

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

3 DrugBank Compounds for CACNB3 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Nimodipine	Nimodipino [INN-Spanish] (see all 2)	66085-59-4	target	inhibitor	20335610 17705883 20334460 19844625 20661350
Mibefradil	--	116644-53-2	target	inhibitor	10372226 10665814 16899990
Verapamil	Verapamil [Usan:Ban:Inn] (see all 4)	52-53-9	target	inhibitor	19125880

Search CenterWatch for drugs/clinical trials and news about CACNB3 / CACB3

(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 CACNB3 gene (4 alternative transcripts):

NM_000725.3 NM_001206915.1 NM_001206916.1 NM_001206917.1

Unigene Cluster for CACNB3:

Calcium channel, voltage-dependent, beta 3 subunit

Hs.250712 [show with all ESTs]

Unigene Representative Sequence: NM_000725

18/24 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):

ENST00000547693 ENST00000550391 ENST00000540990 ENST00000549226 ENST00000548860(uc010slx.2 uc010slz.2 uc001rsk.2)

ENST00000536187 ENST00000548874 ENST00000551716 ENST00000550168 ENST00000552465

ENST00000550064 ENST00000552022 ENST00000549971 ENST00000547818 ENST00000547392

ENST00000301050(uc010sly.2 uc001rsl.2 uc021qxm.1) ENST00000548279

ENST00000550771

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		hsa-miR-125a-5p hsa-miR-3194-5p hsa-miR-185* hsa-miR-219-5p hsa-miR-1285 hsa-miR-449a hsa-miR-508-3p hsa-miR-125b

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Additional cDNA sequence:

AK074551.1 AK289709.1 AK297639.1 AK304537.1 AK316323.1 BC041811.1 L27584.1 U07139.1

X76555.1 X76556.1

18 DOTS entries:

DT.443125 DT.95278626 DT.95278623 DT.101957331 DT.101983104 DT.100016473 DT.95278622 DT.92048212

DT.95278618 DT.100689978 DT.99927764 DT.121208665 DT.100665932 DT.100694314 DT.121208630 DT.121208659

DT.121208661 DT.97845358

8 AceView cDNA sequences:

CR604630 NM_000725 CR624564 U07139 AK122911 X76555 BC041811 X76556

GeneLoc Exon Structure

5/13 Alternative Splicing Database (ASD) splice patterns (SP) for CACNB3 (see all 13) About this scheme

ExUns:	1a	·	1b	·	1c	^	2a	·	2b	·	2c	·	2d	·	2e	^	3	^	4	^	5	^	6	^	7a	·	7b	^	8a	·	8b	·	8c	^	9	^	10a	·	10b	^	11a	·	11b	^	12	^	13a	·	13b	·	13c	^
SP1:							-		-		-		-		-		-		-		-						-																				-
SP2:																	-		-		-						-										-
SP3:																											-										-
SP4:																																															-		-
SP5:					-		-		-		-		-		-		-		-		-						-

ExUns:	14	^	15	^	16a	·	16b	·	16c
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for CACNB3

(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

CACNB3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CACAGTCAAA

About this image

CACNB3 expression in embryonic tissues and stem cells

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

5 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Skeletal Muscle

Hyoid Arch Muscles

Muscle Progenitor Cells

Skeletal Muscle

Mandibular Arch Muscles

Muscle Progenitor Cells

Skeletal Muscle

Eye

Eye

Eye

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CACNB3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CACNB3

SOURCE GeneReport for Unigene cluster: Hs.250712

UniProtKB/Swiss-Prot: CACB3_HUMAN, P54284

Tissue specificity: Expressed mostly in brain, smooth muscle and ovary

SABiosciences Expression via Pathway-Focused PCR Array including CACNB3:

Neuronal Ion Channels in human mouse rat

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In Situ
Assay Products:

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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 CACNB3 gene from 5/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	CACNB3⁶	--	83(a)	1 ↔ 1	2(94331220-94350334)
African clawed frog (Xenopus laevis)	Amphibia	cacnb3-A²	calcium channel, voltage-dependent, beta 3 subunit	78.53(n)		U33217.1
zebrafish (Danio rerio)	Actinopterygii	cacnb3b¹	calcium channel, voltage-dependent, beta 3b	75.69(n) 84.62(a)		559015 XM_682310.3 XP_687402.3
fruit fly (Drosophila melanogaster)	Insecta	Ca-&bgr;³	calcium ion transport voltage-gated calcium channel	61(a)		--
worm (Caenorhabditis elegans)	Secernentea	ccb-1³	calcium channel subunit	60(a) (best of 2)		I(3641606-3646883) --

ENSEMBL Gene Tree for CACNB3 (if available)
TreeFam Gene Tree for CACNB3 (if available)

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

Paralogs for CACNB3 gene

CACNB4² CACNB1² CACNB2²

4 SIMAP similar genes for CACNB3 using alignment to 13 protein entries: CACB3_HUMAN (see all proteins):

CACNB4 CAVB2F CACNB2 CACNB1

CACNB3 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 12 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs78118349^1,2	C,F,	--	46240818(+)	`CACAAA/GTAACA`	2	--	us2k¹		1	WA	118
rs74365048^1,2		--	46240928(+)	`GAGGAG/CGTGCC`	2	--	us2k¹		1	WA	118
rs35486054^1,2	C,F,	--	46241309(+)	`AAGGGT/GCCAGC`	2	--	us2k¹		3	NA	6
rs75240808^1,2	C,F,	--	46241414(+)	`NNNNCC/GCCCGC`	2	--	us2k¹		2	WA NA	238
rs1008880^1,2	C,F,H,	--	46242149(+)	`TTCCCC/TCGCCG`	2	--	int¹ us2k¹ trp³		8	MN NS NA WA	1096
rs112778459^1,2		--	46242591(+)	`CCCGGC/TGGGCG`	2	--	int¹ us2k¹		2	CSA WA	120
rs11835198^1,2	H	--	46242732(+)	`AGTGCA/CACCTT`	3	A	int¹ syn¹		4	NS EA	406
rs79135108^1,2	F,	--	46244736(+)	`CCTTAC/TCCTAG`	4	--	us2k¹ int¹		2	NA EA	240
rs34014405^1,2	C,F,H,	--	46245152(+)	`CGGGAC/TCACTG`	4	--	int¹ us2k¹		15	NS EA NA	1714
rs112241723^1,2		--	46245268(+)	`CCCACG/AGTCTC`	4	--	int¹ us2k¹		2	CSA WA	120

HapMap Linkage Disequilibrium report for CACNB3 (49207577 - 49222724 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CACNB3: --

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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

CACNB3 for disorders           About GeneDecksing

OMIM gene information: 601958    OMIM disorders: --

6 diseases for CACNB3:    About MalaCards

lambert-eaton myasthenic syndrome distal hereditary motor neuropathy myasthenic syndrome canavan disease

neuropathy neuronitis

1 disease from the University of Copenhagen DISEASES database for CACNB3:

Canavan disease

Export disorders for CACNB3 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 CACNB3 gene, integrated from 9 sources (see all 29):
(articles sorted by number of sources associating them with CACNB3)

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Cloning, chromosomal location and functional expression of the human voltage-dependent calcium-channel beta 3 subunit. (PubMed id 8119293)^{1, 2, 3, 9} Collin T....Nargeot J. (1994)
Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PubMed id 19807924)^{1, 2} Voss M....Janssen O. (2009)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Molecular cloning and characterization of the human voltage-gated calcium channel alpha(2)delta-4 subunit. (PubMed id 12181424)^{1, 2} Qin N.... D'Andrea M.R. (2002)
The structures of the human calcium channel alpha 1 subunit (CACNL1A2) and beta subunit (CACNLB3) genes. (PubMed id 7557998)^{1, 2} Yamada Y.... Seino Y. (1995)
Large-scale genome-wide association analysis of bipol ar disorder identifies a new susceptibility locus near ODZ4. (PubMed id 21926972)¹ Sklar P....Purcell S.M. (2011)
Role of intraarterial therapy for cerebral vasospasm secondary to aneurysmal subarachnoid hemorrhage. (PubMed id 20334460)⁷ Weant K.A....Cook A.M. (2010)
L-type calcium channel blockers, morphine and pain: N ewer insights. (PubMed id 20661350)⁷ Kumar R....Ray S.B. (2010)
Nimodipine enhancement of alpha2 adrenergic modulatio n of NMDA receptor via a mechanism independent of Ca2+ channel blocking. (PubMed id 20335610)⁷ Dong C.J....Hare W.A. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 784	HGNC: 1403	AceView: CACNB3	Ensembl:ENSG00000167535	euGenes: HUgn784
ECgene: CACNB3	Kegg: 784	H-InvDB: CACNB3

(According to HUGE)
About This Section

(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 CACNB3	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CACNB3 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CACNB3 gene:
Search GeneIP for patents involving CACNB3

GeneCards and IP:
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calcium channel, voltage-dependent, beta 3 subunit

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calcium channel, voltage-dependent, beta 3 subunit

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