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Reviewed, UniProtKB/Swiss-Prot Q08289 (CACB2_HUMAN)

Last modified July 7, 2009. Version 97. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Voltage-dependent L-type calcium channel subunit beta-2
      Short name=CAB2
Alternative name(s):
    Calcium channel voltage-dependent subunit beta 2
    Lambert-Eaton myasthenic syndrome antigen B
      Short name=MYSB
Gene names
Name: CACNB2
Synonyms: CACNLB2, MYSB
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length660 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

General annotation (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 structure

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

Subcellular location

Cell membranesarcolemma; Peripheral membrane protein; Cytoplasmic side By similarity.

Tissue specificity

Expressed in all tissues.

Involvement in 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. Ref.8

Sequence similarities

Belongs to the calcium channel beta subunit family.

Contains 1 SH3 domain.

Sequence caution

The sequence AAB51370.1 differs from that shown. Reason: Frameshift at position 515.

Alternative products

This entry describes 8 isoforms produced by alternative splicing. [Align] [Select]
Isoform 2d (identifier: Q08289-1)

Also known as: CACNB2d;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2a (identifier: Q08289-2)

Also known as: CACNB2a;

The sequence of this isoform differs from the canonical sequence as follows:
     1-71: MVQRDMSKSP...DTTSNSFVRQ → MQCCGLVHRRRVRVSY
Isoform 2b (identifier: Q08289-3)

Also known as: CACNB2b;

The sequence of this isoform differs from the canonical sequence as follows:
     1-71: MVQRDMSKSP...DTTSNSFVRQ → MLDRRLIAPQTKYIIPG
Isoform 2c (identifier: Q08289-4)

Also known as: CACNB2c;

The sequence of this isoform differs from the canonical sequence as follows:
     1-40: MVQRDMSKSPPTAAAAVAQEIQMELLENVAPAGALGAAAQ → MNQGSGLDLLKI
Isoform 2e (identifier: Q08289-5)

Also known as: CACNB2e;

The sequence of this isoform differs from the canonical sequence as follows:
     1-71: MVQRDMSKSP...DTTSNSFVRQ → MKATWIRLLKRAKGGRLKNSDIC
Isoform 2f (identifier: Q08289-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1-71: MVQRDMSKSP...DTTSNSFVRQ → MQCCGLVHRRRVRVSY
     224-268: AIDIDATGLDAEENDIPANHRSPKPSANSVTSPHSKEKRMPFFKK → AKQKQKS
Isoform 2g (identifier: Q08289-7)

The sequence of this isoform differs from the canonical sequence as follows:
     224-268: AIDIDATGLDAEENDIPANHRSPKPSANSVTSPHSKEKRMPFFKK → AKQKQKS
Isoform 2h (identifier: Q08289-8)

The sequence of this isoform differs from the canonical sequence as follows:
     224-268: AIDIDATGLDAEENDIPANHRSPKPSANSVTSPHSKEKRMPFFKK → GAKSADEQDQWKTAGLFWRFT

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 660660Voltage-dependent L-type calcium channel subunit beta-2
PRO_0000144051

Regions

Domain114 – 18370SH3

Natural variations

Alternative sequence1 – 7171MVQRD…SFVRQ → MQCCGLVHRRRVRVSY in isoform 2a and isoform 2f.
VSP_000627
Alternative sequence1 – 7171MVQRD…SFVRQ → MLDRRLIAPQTKYIIPG in isoform 2b.
VSP_000628
Alternative sequence1 – 7171MVQRD…SFVRQ → MKATWIRLLKRAKGGRLKNS DIC in isoform 2e.
VSP_000629
Alternative sequence1 – 4040MVQRD…GAAAQ → MNQGSGLDLLKI in isoform 2c.
VSP_000626
Alternative sequence224 – 26845AIDID…PFFKK → AKQKQKS in isoform 2f and isoform 2g.
VSP_000630
Alternative sequence224 – 26845AIDID…PFFKK → GAKSADEQDQWKTAGLFWRF T in isoform 2h.
VSP_000631
Natural variant991A → G in a colorectal cancer sample; somatic mutation. Ref.7
VAR_036350
Natural variant5351S → L in BRS4; loss of function. Ref.8
VAR_044041

Experimental info

Sequence conflict691V → L in AAD33729. Ref.3
Sequence conflict100 – 1012ER → Q in AAD33729. Ref.3
Sequence conflict1221N → D in AAD33729. Ref.3
Sequence conflict3641L → V in AAD33729. Ref.3
Sequence conflict3641L → V in AAD33730. Ref.3
Sequence conflict4061R → T in AAD33729. Ref.3
Sequence conflict4061R → T in AAD33730. Ref.3
Sequence conflict5011D → H in AAD33729. Ref.3
Sequence conflict5011D → H in AAD33730. Ref.3
Sequence conflict5241P → G in AAD33729. Ref.3
Sequence conflict5241P → G in AAD33730. Ref.3
Sequence conflict6241Q → QQ in AAD33729. Ref.3
Sequence conflict6241Q → QQ in AAD33730. Ref.3
Sequence conflict6591R → P in AAB53332. Ref.2
Sequence conflict6591R → P in AAG01473. Ref.5
Sequence conflict6591R → P in AAL16948. Ref.5
Sequence conflict6591R → P in AAL16951. Ref.5
Sequence conflict6591R → P in AAL16950. Ref.5
Sequence conflict6591R → P in AAL73495. Ref.6

Sequences

Sequence LengthMass (Da)Tools
Isoform 2d (CACNB2d) [UniParc].

Last modified April 17, 2007. Version 3.
Checksum: 4A08B141EE66404E

FASTA66073,581
        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 

« Hide

Isoform 2a (CACNB2a).

Checksum: 710A5E734B7442DD
Show »

FASTA60568,142
Isoform 2b (CACNB2b).

Checksum: F4A4A1BAE6A105F0
Show »

FASTA60668,164
Isoform 2c (CACNB2c).

Checksum: FBD00FB30E47E5FB
Show »

FASTA63270,832
Isoform 2e (CACNB2e).

Checksum: 1D60077179676927
Show »

FASTA61268,838
Isoform 2f.

Checksum: CBCD97B7822B92E6
Show »

FASTA56764,010
Isoform 2g.

Checksum: 9FBABEC5BE5DD074
Show »

FASTA62269,449
Isoform 2h.

Checksum: 71521EDDD736A9CF
Show »

FASTA63671,075

References

« Hide 'large scale' references
[1]"Cloning and characterization of a Lambert-Eaton myasthenic syndrome antigen."
Rosenfeld M.R., Wong E., Dalmau J., Manley G., Posner J.B., Sher E., Furneaux H.M.
Ann. Neurol. 33:113-120(1993) [PubMed: 8494331] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2A; 2G AND 2H).
Tissue: Fetal brain.
[2]"Assignment of human genes for beta 2 and beta 4 subunits of voltage-dependent Ca2+ channels to chromosomes 10p12 and 2q22-q23."
Taviaux S., Williams M.E., Harpold M.M., Nargeot J., Lory P.
Hum. Genet. 100:151-154(1997) [PubMed: 9254841] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2A).
Tissue: Brain.
[3]"Cooperative effects of alpha2delta and beta2a subunits on surface expression of calcium channel alpha1c subunits."
Mikala G., Yamaguchi H., Schwartz A.
Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2A AND 2D).
[4]"The beta 2 subunit of the voltage-dependent calcium channel (CACNB2): genomic structure and mutational analysis as a candidate gene for ARVD6."
Li D., Roberts R.
Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 2A).
[5]"Novel functional properties of Ca2+ channel beta subunits revealed by their expression in adult heart cells."
Colecraft H.M., Mittman S., Takahashi S., Yue D.T.
Submitted (SEP-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2A; 2B; 2C; 2D AND 2E).
[6]"Human jejunum voltage-gated calcium channel subunits."
Lyford G.L., Strege P., Shepard A., Miller S., Rae J., Gibbons S., Szurszewski J., Farrugia G.
Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2F).
Tissue: Jejunum.
[7]"The consensus coding sequences of human breast and colorectal cancers."
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. expand/collapse author list , 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.
Science 314:268-274(2006) [PubMed: 16959974] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] GLY-99.
[8]"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."
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. expand/collapse author list , Hsu L.F., Haissaguerre M., Schimpf R., Borggrefe M., Wolpert C.
Circulation 115:442-449(2007) [PubMed: 17224476] [Abstract]
Cited for: VARIANT BRS4 LEU-535, CHARACTERIZATION OF VARIANT BRS4 LEU-535.
+Additional computationally mapped references.

Cross-references

Sequence databases

S60415 mRNA. Translation: AAB51370.1. Frameshift.
U95019 mRNA. Translation: AAB53332.1.
AF137376 mRNA. Translation: AAD33729.1.
AF137377 mRNA. Translation: AAD33730.1.
AY027898 expand/collapse EMBL AC list , AY027893, AY027894, AY027895, AY027896, AY027897 Genomic DNA. Translation: AAK16994.1.
AF423189 mRNA. Translation: AAL16948.1.
AF423190 mRNA. Translation: AAL16949.1.
AF423191 mRNA. Translation: AAL16950.1.
AF423192 mRNA. Translation: AAL16951.1.
AF285239 mRNA. Translation: AAG01473.2.
AF465485 mRNA. Translation: AAL73495.1.
IPIIPI00000867.
IPI00218399.
IPI00218400.
IPI00218401.
IPI00218402.
IPI00218404.
IPI00218405.
IPI00409678.
PIRA48895.
RefSeqNP_963864.1.
NP_963865.2.
NP_963887.2.
NP_963890.2.
NP_963891.1.
UniGeneHs.709353

3D structure databases

SMRQ08289. Positions 88-216.
ModBaseSearch...

Protein family/group databases

TCDB8.A.22.2.1. Ca2+ channel auxiliary subunit beta types 1-4 (CCA-beta) family.

PTM databases

PhosphoSiteQ08289.

Genome annotation databases

EnsemblENSG00000165995. Homo sapiens. [Contig view]
GeneID783.
UCSCuc001ipr.2. human.
uc001ips.2. human.
uc001ipt.2. human.
uc001ipy.2. human.

Organism-specific databases

GeneCardsGC10P018469.
H-InvDBHIX0035328.
HGNCHGNC:1402. CACNB2.
MIM600003. gene.
611876. phenotype.
Orphanet43393. Lambert-Eaton myasthenic syndrome.
PharmGKBPA88.
GenAtlasSearch...

Phylogenomic databases

HOVERGENQ08289.
OMAQ08289. TEHTPPY.

Enzyme and pathway databases

ReactomeREACT_13685. Synaptic Transmission.
REACT_1505. Integration of energy metabolism.
REACT_15380. Diabetes pathways.

Gene expression databases

ArrayExpressQ08289.
BgeeQ08289.
GermOnlineENSG00000165995. Homo sapiens.

Family and domain databases

InterProIPR008145. Guanylt/Ca.
IPR001452. SH3_domain.
IPR005444. VDCC_L_b2su.
IPR000584. VDCC_L_bsu.
[Graphical view]
PANTHERPTHR11824. Ca_channel_B. 1 hit.
PfamPF00774. Ca_channel_B. 1 hit.
PF00018. SH3_1. 1 hit.
[Graphical view]
PRINTSPR01626. LCACHANNELB.
PR01628. LCACHANNELB2.
SMARTSM00072. GuKc. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view]
PROSITEPS50002. SH3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

DrugBankDB00653. Magnesium Sulfate.
DB00661. Verapamil.
NextBio3172.
SOURCESearch...

Entry information

Entry nameCACB2_HUMAN
AccessionPrimary (citable) accession number: Q08289
Secondary accession number(s): O00304 expand/collapse secondary AC list , Q8WX81, Q96NZ3, Q96NZ4, Q96NZ5, Q9BWU2, Q9HD32, Q9Y340, Q9Y341
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1994
Last sequence update: April 17, 2007
Last modified: July 7, 2009
This is version 97 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents