[1]	NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2A; 2G AND 2H). TISSUE=Fetal brain; DOI=10.1002/ana.410330126; PubMed=8494331 [NCBI, ExPASy, EBI, Israel, Japan] Rosenfeld M.R., Wong E., Dalmau J., Manley G., Posner J.B., Sher E., Furneaux H.M.; "Cloning and characterization of a Lambert-Eaton myasthenic syndrome antigen."; Ann. Neurol. 33:113-120(1993).
[2]	NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2A). TISSUE=Brain; DOI=10.1007/s004390050482; PubMed=9254841 [NCBI, ExPASy, EBI, Israel, Japan] Taviaux S., Williams M.E., Harpold M.M., Nargeot J., Lory P.; "Assignment of human genes for beta 2 and beta 4 subunits of voltage-dependent Ca2+ channels to chromosomes 10p12 and 2q22-q23."; Hum. Genet. 100:151-154(1997).
[3]	NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2A AND 2D). Mikala G., Yamaguchi H., Schwartz A.; "Cooperative effects of alpha2delta and beta2a subunits on surface expression of calcium channel alpha1c subunits."; Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases.
[4]	NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 2A). Li D., Roberts R.; "The beta 2 subunit of the voltage-dependent calcium channel (CACNB2): genomic structure and mutational analysis as a candidate gene for ARVD6."; Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases.
[5]	NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2A; 2B; 2C; 2D AND 2E). Colecraft H.M., Mittman S., Takahashi S., Yue D.T.; "Novel functional properties of Ca2+ channel beta subunits revealed by their expression in adult heart cells."; Submitted (SEP-2001) to the EMBL/GenBank/DDBJ databases.
[6]	NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2F). TISSUE=Jejunum; Lyford G.L., Strege P., Shepard A., Miller S., Rae J., Gibbons S., Szurszewski J., Farrugia G.; "Human jejunum voltage-gated calcium channel subunits."; Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases.
[7]	VARIANT [LARGE SCALE ANALYSIS] GLY-99. DOI=10.1126/science.1133427; PubMed=16959974 [NCBI, ExPASy, EBI, Israel, Japan] Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.; "The consensus coding sequences of human breast and colorectal cancers."; Science 314:268-274(2006).
[8]	VARIANT BRS4 LEU-535, AND CHARACTERIZATION OF VARIANT BRS4 LEU-535. DOI=10.1161/CIRCULATIONAHA.106.668392; PubMed=17224476 [NCBI, ExPASy, EBI, Israel, Japan] Antzelevitch C., Pollevick G.D., Cordeiro J.M., Casis O., Sanguinetti M.C., Aizawa Y., Guerchicoff A., Pfeiffer R., Oliva A., Wollnik B., Gelber P., Bonaros E.P. Jr., Burashnikov E., Wu Y., Sargent J.D., Schickel S., Oberheiden R., Bhatia A., Hsu L.F., Haissaguerre M., Schimpf R., Borggrefe M., Wolpert C.; "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."; Circulation 115:442-449(2007).

Comments

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.
SUBUNIT: The L-type calcium channel is composed of four subunits: alpha-1, alpha-2, beta and gamma.
SUBCELLULAR LOCATION: Cell membrane, sarcolemma; Peripheral membrane protein; Cytoplasmic side (By similarity).

ALTERNATIVE PRODUCTS: 8 named isoforms [FASTA] produced by alternative splicing.

Name	2d
Synonyms	CACNB2d
Isoform ID	Q08289-1
This is the isoform sequence displayed in this entry.

Name	2a
Synonyms	CACNB2a
Isoform ID	Q08289-2
Features which should be applied to build the isoform sequence: VSP_000627.

Name	2b
Synonyms	CACNB2b
Isoform ID	Q08289-3
Features which should be applied to build the isoform sequence: VSP_000628.

Name	2c
Synonyms	CACNB2c
Isoform ID	Q08289-4
Features which should be applied to build the isoform sequence: VSP_000626.

Name	2e
Synonyms	CACNB2e
Isoform ID	Q08289-5
Features which should be applied to build the isoform sequence: VSP_000629.

Name	2f
Isoform ID	Q08289-6
Features which should be applied to build the isoform sequence: VSP_000627, VSP_000630.

Name	2g
Isoform ID	Q08289-7
Features which should be applied to build the isoform sequence: VSP_000630.

Name	2h
Isoform ID	Q08289-8
Features which should be applied to build the isoform sequence: VSP_000631.

TISSUE SPECIFICITY: Expressed in all tissues.
DISEASE: Defects in CACNB2 are the cause of Brugada syndrome type 4 (BRS4) [MIM:611876]. BRS4 is 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.
SIMILARITY: Belongs to the calcium channel beta subunit family.
SIMILARITY: Contains 1 SH3 domain.
SEQUENCE CAUTION:
- Sequence=AAB51370.1; Type=Frameshift; Positions=515;

Copyright

Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.

Cross-references

Sequence databases

EMBL

S60415; AAB51370.1; ALT_FRAME; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
U95019; AAB53332.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AF137376; AAD33729.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AF137377; AAD33730.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AY027898; AAK16994.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AY027893; AAK16994.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AY027894; AAK16994.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AY027895; AAK16994.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AY027896; AAK16994.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AY027897; AAK16994.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AF423189; AAL16948.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AF423190; AAL16949.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AF423191; AAL16950.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AF423192; AAL16951.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AF285239; AAG01473.2; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AF465485; AAL73495.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]

IPI

IPI00000867; -.
IPI00218399; -.
IPI00218400; -.
IPI00218401; -.
IPI00218402; -.
IPI00218404; -.
IPI00218405; -.
IPI00409678; -.

PIR

A48895; A48895.

RefSeq

NP_963864.1; -.
NP_963865.2; -.
NP_963887.2; -.
NP_963890.2; -.
NP_963891.1; -.

UniGene

Hs.709353

3D structure databases

SMR

Q08289; 88-216.

ModBase

Q08289.

Protein family/group databases

TCDB

8.A.22.2.1; Ca2+ channel auxiliary subunit beta types 1-4 (CCA-beta) family.

PTM databases

PhosphoSite

Q08289; -.

Enzyme and pathway databases

Reactome

REACT_13685; Synaptic Transmission.

Organism-specific databases

GC10P018469; -.

HIX0035328; -.

HGNC:1402; CACNB2.

600003; gene. [NCBI / EBI]
611876; phenotype. [NCBI / EBI]

Orphanet

43393; Lambert-Eaton myasthenic syndrome.

PharmGKB

PA88; -.

Gene expression databases

ArrayExpress

Q08289; -.

Bgee

Q08289; -.

GermOnline

ENSG00000165995; Homo sapiens.

Ontologies

GO:0005887;	Cellular component: integral to plasma membrane (non-traceable author statement from UniProtKB).
GO:0042383;	Cellular component: sarcolemma (inferred from electronic annotation from UniProtKB-SubCell).
GO:0005891;	Cellular component: voltage-gated calcium channel complex (traceable author statement from ProtInc).
GO:0005509;	Molecular function: calcium ion binding (inferred from electronic annotation from UniProtKB-KW).
GO:0005245;	Molecular function: voltage-gated calcium channel activity (traceable author statement from ProtInc).
GO:0006816;	Biological process: calcium ion transport (non-traceable author statement from UniProtKB).
GO:0007528;	Biological process: neuromuscular junction development (traceable author statement from ProtInc).
QuickGo view.

Family and domain databases

InterPro

IPR008145; Guanylt/Ca.
IPR001452; SH3_domain.
IPR005444; VDCC_L_b2su.
IPR000584; VDCC_L_bsu.
Graphical view of domain structure.

PANTHER

PTHR11824; Ca_channel_B; 1.

Pfam

PF00774; Ca_channel_B; 1.
PF00018; SH3_1; 1.
Pfam graphical view of domain structure.

PRINTS

PR01626; LCACHANNELB.
PR01628; LCACHANNELB2.

SMART

SM00072; GuKc; 1.
SM00326; SH3; 1.
SMART graphical view of domain structure.

PROSITE

PS50002; SH3; 1.
PROSITE graphical view of domain structure (profiles).

Genome annotation databases

Ensembl

ENSG00000165995; Homo sapiens. [Contig view]

GeneID

783; -.

Phylogenomic databases

HOVERGEN

Q08289; -.

OMA

Q08289; TEHTPPY.

Other

DrugBank

DB00653; Magnesium Sulfate.
DB00661; Verapamil.

NextBio

3172; -.

SOURCE

CACNB2; Homo sapiens.

ProtoNet

Q08289.

UniRef

View cluster of proteins with at least 50% / 90% / 100% identity.

Keywords

Alternative splicing; Brugada syndrome; Calcium; Calcium channel; Calcium transport; Cell membrane; Disease mutation; Ion transport; Ionic channel; Membrane; Phosphoprotein; Polymorphism; SH3 domain; Transport; Voltage-gated channel.

Features

Feature table viewer

Feature aligner

`Key`	`From To`	`Length`	`Description`	`FTId`
`CHAIN`	`1 660`	`660`	`Voltage-dependent L-type calcium channel subunit beta-2.`	`PRO_0000144051`
`DOMAIN`	`114 183`	`70`	`SH3.`
`VAR_SEQ`	`1 71`		`MVQRDMSKSPPTAAAAVAQEIQMELLENVAPAGALGAAAQ` `SYGKGARRKNRFKGSDGSTSSDTTSNSFVRQ -> MQCCGLVHRRRVRVSY (in isoform 2a and isoform 2f).`	`VSP_000627`
`VAR_SEQ`	`1 71`		`MVQRDMSKSPPTAAAAVAQEIQMELLENVAPAGALGAAAQ` `SYGKGARRKNRFKGSDGSTSSDTTSNSFVRQ -> MLDRRLIAPQTKYIIPG (in isoform 2b).`	`VSP_000628`
`VAR_SEQ`	`1 71`		`MVQRDMSKSPPTAAAAVAQEIQMELLENVAPAGALGAAAQ` `SYGKGARRKNRFKGSDGSTSSDTTSNSFVRQ -> MKATWIRLLKRAKGGRLKNSDIC (in isoform 2e).`	`VSP_000629`
`VAR_SEQ`	`1 40`		`MVQRDMSKSPPTAAAAVAQEIQMELLENVAPAGALGAAAQ -> MNQGSGLDLLKI (in isoform 2c).`	`VSP_000626`
`VAR_SEQ`	`224 268`		`AIDIDATGLDAEENDIPANHRSPKPSANSVTSPHSKEKRM` `PFFKK -> AKQKQKS (in isoform 2f and isoform 2g).`	`VSP_000630`
`VAR_SEQ`	`224 268`		`AIDIDATGLDAEENDIPANHRSPKPSANSVTSPHSKEKRM` `PFFKK -> GAKSADEQDQWKTAGLFWRFT (in isoform 2h).`	`VSP_000631`
`VARIANT`	`99 99`	`1`	`A -> G (in a colorectal cancer sample; somatic mutation).`	`VAR_036350`
`VARIANT`	`535 535`	`1`	`S -> L (in BRS4; loss of function).`	`VAR_044041`
`CONFLICT`	`69 69`		`V -> L (in Ref. 3; AAD33729).`
`CONFLICT`	`100 101`		`ER -> Q (in Ref. 3; AAD33729).`
`CONFLICT`	`122 122`		`N -> D (in Ref. 3; AAD33729).`
`CONFLICT`	`364 364`		`L -> V (in Ref. 3; AAD33729/AAD33730).`
`CONFLICT`	`406 406`		`R -> T (in Ref. 3; AAD33729/AAD33730).`
`CONFLICT`	`501 501`		`D -> H (in Ref. 3; AAD33729/AAD33730).`
`CONFLICT`	`524 524`		`P -> G (in Ref. 3; AAD33729/AAD33730).`
`CONFLICT`	`624 624`		`Q -> QQ (in Ref. 3; AAD33729/AAD33730).`
`CONFLICT`	`659 659`		`R -> P (in Ref. 2; AAB53332, 5; AAG01473/AAL16948/AAL16951/AAL16950 and 6; AAL73495).`

Sequence information

Length: 660 AA [This is the length of the unprocessed precursor]

Molecular weight: 73581 Da [This is the MW of the unprocessed precursor]

CRC64: 4A08B141EE66404E [This is a checksum on the sequence]

        10         20         30         40         50         60 
MVQRDMSKSP PTAAAAVAQE IQMELLENVA PAGALGAAAQ SYGKGARRKN RFKGSDGSTS 

        70         80         90        100        110        120 
SDTTSNSFVR QGSADSYTSR PSDSDVSLEE DREAVRREAE RQAQAQLEKA KTKPVAFAVR 

       130        140        150        160        170        180 
TNVSYSAAHE DDVPVPGMAI SFEAKDFLHV KEKFNNDWWI GRLVKEGCEI GFIPSPVKLE 

       190        200        210        220        230        240 
NMRLQHEQRA KQGKFYSSKS GGNSSSSLGD IVPSSRKSTP PSSAIDIDAT GLDAEENDIP 

       250        260        270        280        290        300 
ANHRSPKPSA NSVTSPHSKE KRMPFFKKTE HTPPYDVVPS MRPVVLVGPS LKGYEVTDMM 

       310        320        330        340        350        360 
QKALFDFLKH RFEGRISITR VTADISLAKR SVLNNPSKHA IIERSNTRSS LAEVQSEIER 

       370        380        390        400        410        420 
IFELARTLQL VVLDADTINH PAQLSKTSLA PIIVYVKISS PKVLQRLIKS RGKSQAKHLN 

       430        440        450        460        470        480 
VQMVAADKLA QCPPELFDVI LDENQLEDAC EHLADYLEAY WKATHPPSSS LPNPLLSRTL 

       490        500        510        520        530        540 
ATSSLPLSPT LASNSQGSQG DQRTDRSAPI RSASQAEEEP SVEPVKKSQH RSSSSAPHHN 

       550        560        570        580        590        600 
HRSGTSRGLS RQETFDSETQ ESRDSAYVEP KEDYSHDHVD HYASHRDHNH RDETHGSSDH 

       610        620        630        640        650        660 
RHRESRHRSR DVDREQDHNE CNKQRSRHKS KDRYCEKDGE VISKKRNEAG EWNRDVYIRQ

Q08289 in FASTA format

View entry in raw text format (no links)
Report form for errors/updates in this UniProtKB/Swiss-Prot entry

	BLAST submission on ExPASy/SIB or at NCBI (USA)		Sequence analysis tools: ProtParam, ProtScale, Compute pI/Mw, PeptideMass, PeptideCutter, Dotlet (Java)
	ScanProsite, MotifScan		Submit a homology modeling request to SWISS-MODEL
	NPSA Sequence analysis tools