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Q08289

- CACB2_HUMAN

UniProt

Q08289 - CACB2_HUMAN

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Protein

Voltage-dependent L-type calcium channel subunit beta-2

Gene
CACNB2, CACNLB2, MYSB
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei549 – 5491Required for CaMK2D-binding By similarity

GO - Molecular functioni

  1. calcium channel activity Source: UniProtKB
  2. protein binding Source: UniProtKB
  3. voltage-gated calcium channel activity Source: BHF-UCL

GO - Biological processi

  1. axon guidance Source: Reactome
  2. calcium ion import Source: BHF-UCL
  3. neuromuscular junction development Source: ProtInc
  4. positive regulation of calcium ion transport Source: BHF-UCL
  5. synaptic transmission Source: Ensembl
  6. transport Source: ProtInc
  7. visual perception Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Calcium channel, Ion channel, Voltage-gated channel

Keywords - Biological processi

Calcium transport, Ion transport, Transport

Keywords - Ligandi

Calcium

Enzyme and pathway databases

ReactomeiREACT_13606. Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels.
REACT_18312. NCAM1 interactions.
REACT_18325. Regulation of insulin secretion.
REACT_18339. Adrenaline,noradrenaline inhibits insulin secretion.
SignaLinkiQ08289.

Protein family/group databases

TCDBi8.A.22.1.2. the ca(2+) channel auxiliary subunit types 1-4 (cca-) family.

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:CACNB2
Synonyms:CACNLB2, MYSB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:1402. CACNB2.

Subcellular locationi

Cell membranesarcolemma; Peripheral membrane protein; Cytoplasmic side By similarity 1 Publication

GO - Cellular componenti

  1. integral component of plasma membrane Source: UniProtKB
  2. sarcolemma Source: UniProtKB-SubCell
  3. voltage-gated calcium channel complex Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Brugada syndrome 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, the individual will faint and may die in a few minutes if the heart is not reset.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti535 – 5351S → L in BRGDA4; loss of function. 1 Publication
VAR_044041

Keywords - Diseasei

Brugada syndrome, Disease mutation

Organism-specific databases

MIMi611876. phenotype.
Orphaneti130. Brugada syndrome.
PharmGKBiPA88.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 660660Voltage-dependent L-type calcium channel subunit beta-2PRO_0000144051Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei554 – 5541Phosphothreonine; by CaMK2D By similarity

Post-translational modificationi

Regulated through phosphorylation at Thr-554 by CaMK2D By similarity.

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ08289.
PaxDbiQ08289.
PRIDEiQ08289.

PTM databases

PhosphoSiteiQ08289.

Expressioni

Tissue specificityi

Expressed in all tissues.

Gene expression databases

ArrayExpressiQ08289.
BgeeiQ08289.
GenevestigatoriQ08289.

Organism-specific databases

HPAiHPA035326.

Interactioni

Subunit structurei

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 TMIGD2.2 Publications

Protein-protein interaction databases

IntActiQ08289. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliQ08289.
SMRiQ08289. Positions 90-216, 262-470.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini114 – 18370SH3Add
BLAST

Sequence similaritiesi

Contains 1 SH3 domain.

Keywords - Domaini

SH3 domain

Phylogenomic databases

eggNOGiNOG326500.
HOVERGENiHBG050765.
InParanoidiQ08289.
KOiK04863.
OMAiDSAYVEP.
OrthoDBiEOG7966G4.
PhylomeDBiQ08289.
TreeFamiTF316195.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR008145. GK/Ca_channel_bsu.
IPR027417. P-loop_NTPase.
IPR001452. SH3_domain.
IPR005444. VDCC_L_b2su.
IPR000584. VDCC_L_bsu.
[Graphical view]
PANTHERiPTHR11824. PTHR11824. 1 hit.
PfamiPF00625. Guanylate_kin. 1 hit.
PF12052. VGCC_beta4Aa_N. 1 hit.
[Graphical view]
PRINTSiPR01626. LCACHANNELB.
PR01628. LCACHANNELB2.
SMARTiSM00072. GuKc. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMiSSF50044. SSF50044. 2 hits.
SSF52540. SSF52540. 1 hit.
PROSITEiPS50002. SH3. 1 hit.
[Graphical view]

Sequences (10)i

Sequence statusi: Complete.

This entry describes 10 isoformsi produced by alternative splicing. Align

Isoform 2d (identifier: Q08289-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MVQRDMSKSP PTAAAAVAQE IQMELLENVA PAGALGAAAQ SYGKGARRKN    50
RFKGSDGSTS SDTTSNSFVR QGSADSYTSR PSDSDVSLEE DREAVRREAE 100
RQAQAQLEKA KTKPVAFAVR TNVSYSAAHE DDVPVPGMAI SFEAKDFLHV 150
KEKFNNDWWI GRLVKEGCEI GFIPSPVKLE NMRLQHEQRA KQGKFYSSKS 200
GGNSSSSLGD IVPSSRKSTP PSSAIDIDAT GLDAEENDIP ANHRSPKPSA 250
NSVTSPHSKE KRMPFFKKTE HTPPYDVVPS MRPVVLVGPS LKGYEVTDMM 300
QKALFDFLKH RFEGRISITR VTADISLAKR SVLNNPSKHA IIERSNTRSS 350
LAEVQSEIER IFELARTLQL VVLDADTINH PAQLSKTSLA PIIVYVKISS 400
PKVLQRLIKS RGKSQAKHLN VQMVAADKLA QCPPELFDVI LDENQLEDAC 450
EHLADYLEAY WKATHPPSSS LPNPLLSRTL ATSSLPLSPT LASNSQGSQG 500
DQRTDRSAPI RSASQAEEEP SVEPVKKSQH RSSSSAPHHN HRSGTSRGLS 550
RQETFDSETQ ESRDSAYVEP KEDYSHDHVD HYASHRDHNH RDETHGSSDH 600
RHRESRHRSR DVDREQDHNE CNKQRSRHKS KDRYCEKDGE VISKKRNEAG 650
EWNRDVYIRQ 660
Length:660
Mass (Da):73,581
Last modified:April 17, 2007 - v3
Checksum:i4A08B141EE66404E
GO
Isoform 2a (identifier: Q08289-2) [UniParc]FASTAAdd to Basket

Also known as: CACNB2a

The sequence of this isoform differs from the canonical sequence as follows:
     1-71: MVQRDMSKSP...DTTSNSFVRQ → MQCCGLVHRRRVRVSY

Show »
Length:605
Mass (Da):68,142
Checksum:i710A5E734B7442DD
GO
Isoform 2b (identifier: Q08289-3) [UniParc]FASTAAdd to Basket

Also known as: CACNB2b, 2aN4

The sequence of this isoform differs from the canonical sequence as follows:
     1-71: MVQRDMSKSP...DTTSNSFVRQ → MLDRRLIAPQTKYIIPG

Show »
Length:606
Mass (Da):68,164
Checksum:iF4A4A1BAE6A105F0
GO
Isoform 2c (identifier: Q08289-4) [UniParc]FASTAAdd to Basket

Also known as: CACNB2c, 2aN2

The sequence of this isoform differs from the canonical sequence as follows:
     1-40: MVQRDMSKSPPTAAAAVAQEIQMELLENVAPAGALGAAAQ → MNQGSGLDLLKI

Show »
Length:632
Mass (Da):70,832
Checksum:iFBD00FB30E47E5FB
GO
Isoform 2e (identifier: Q08289-5) [UniParc]FASTAAdd to Basket

Also known as: CACNB2e

The sequence of this isoform differs from the canonical sequence as follows:
     1-71: MVQRDMSKSP...DTTSNSFVRQ → MKATWIRLLKRAKGGRLKNSDIC

Show »
Length:612
Mass (Da):68,838
Checksum:i1D60077179676927
GO
Isoform 2f (identifier: Q08289-6) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-71: MVQRDMSKSP...DTTSNSFVRQ → MQCCGLVHRRRVRVSY
     224-268: AIDIDATGLDAEENDIPANHRSPKPSANSVTSPHSKEKRMPFFKK → AKQKQKS

Show »
Length:567
Mass (Da):64,010
Checksum:iCBCD97B7822B92E6
GO
Isoform 2g (identifier: Q08289-7) [UniParc]FASTAAdd to Basket

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

Show »
Length:622
Mass (Da):69,449
Checksum:i9FBABEC5BE5DD074
GO
Isoform 2h (identifier: Q08289-8) [UniParc]FASTAAdd to Basket

Also known as: 2cN1

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

Show »
Length:636
Mass (Da):71,075
Checksum:i71521EDDD736A9CF
GO
Isoform 2cN2 (identifier: Q08289-9) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-40: MVQRDMSKSPPTAAAAVAQEIQMELLENVAPAGALGAAAQ → MNQGSGLDLLKI
     224-268: AIDIDATGLDAEENDIPANHRSPKPSANSVTSPHSKEKRMPFFKK → GAKSADEQDQWKTAGLFWRFT

Show »
Length:608
Mass (Da):68,326
Checksum:i45DCA4A5AF7ACAF4
GO
Isoform 2cN4 (identifier: Q08289-10) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-71: MVQRDMSKSP...DTTSNSFVRQ → MLDRRLIAPQTKYIIPG
     224-268: AIDIDATGLDAEENDIPANHRSPKPSANSVTSPHSKEKRMPFFKK → GAKSADEQDQWKTAGLFWRFT

Show »
Length:582
Mass (Da):65,658
Checksum:i4AC64252EDD46ABB
GO

Sequence cautioni

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti99 – 991A → G in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036350
Natural varianti535 – 5351S → L in BRGDA4; loss of function. 1 Publication
VAR_044041

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 7171MVQRD…SFVRQ → MQCCGLVHRRRVRVSY in isoform 2a and isoform 2f. VSP_000627Add
BLAST
Alternative sequencei1 – 7171MVQRD…SFVRQ → MLDRRLIAPQTKYIIPG in isoform 2b and isoform 2cN4. VSP_000628Add
BLAST
Alternative sequencei1 – 7171MVQRD…SFVRQ → MKATWIRLLKRAKGGRLKNS DIC in isoform 2e. VSP_000629Add
BLAST
Alternative sequencei1 – 4040MVQRD…GAAAQ → MNQGSGLDLLKI in isoform 2c and isoform 2cN2. VSP_000626Add
BLAST
Alternative sequencei224 – 26845AIDID…PFFKK → AKQKQKS in isoform 2f and isoform 2g. VSP_000630Add
BLAST
Alternative sequencei224 – 26845AIDID…PFFKK → GAKSADEQDQWKTAGLFWRF T in isoform 2h, isoform 2cN2 and isoform 2cN4. VSP_000631Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti56 – 561D → N in AAQ97608. 1 Publication
Sequence conflicti69 – 691V → L in AAD33729. 1 Publication
Sequence conflicti100 – 1012ER → Q in AAD33729. 1 Publication
Sequence conflicti122 – 1221N → D in AAD33729. 1 Publication
Sequence conflicti364 – 3641L → V in AAD33729. 1 Publication
Sequence conflicti364 – 3641L → V in AAD33730. 1 Publication
Sequence conflicti406 – 4061R → T in AAD33729. 1 Publication
Sequence conflicti406 – 4061R → T in AAD33730. 1 Publication
Sequence conflicti501 – 5011D → H in AAD33729. 1 Publication
Sequence conflicti501 – 5011D → H in AAD33730. 1 Publication
Sequence conflicti524 – 5241P → G in AAD33729. 1 Publication
Sequence conflicti524 – 5241P → G in AAD33730. 1 Publication
Sequence conflicti624 – 6241Q → QQ in AAD33729. 1 Publication
Sequence conflicti624 – 6241Q → QQ in AAD33730. 1 Publication
Sequence conflicti659 – 6591R → P in AAB53332. 1 Publication
Sequence conflicti659 – 6591R → P in AAG01473. 1 Publication
Sequence conflicti659 – 6591R → P in AAL16948. 1 Publication
Sequence conflicti659 – 6591R → P in AAL16951. 1 Publication
Sequence conflicti659 – 6591R → P in AAL16950. 1 Publication
Sequence conflicti659 – 6591R → P in AAQ97606. 1 Publication
Sequence conflicti659 – 6591R → P in AAQ97607. 1 Publication
Sequence conflicti659 – 6591R → P in AAQ97608. 1 Publication
Sequence conflicti659 – 6591R → P in AAQ97609. 1 Publication
Sequence conflicti659 – 6591R → P in AAQ97610. 1 Publication
Sequence conflicti659 – 6591R → P in AAL73495. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
S60415 mRNA. Translation: AAB51370.1. Frameshift.
U95019 mRNA. Translation: AAB53332.1.
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.
AY393858 mRNA. Translation: AAQ97606.1.
AY393859 mRNA. Translation: AAQ97607.1.
AY393860 mRNA. Translation: AAQ97608.1.
AY393861 mRNA. Translation: AAQ97609.1.
AY393862 mRNA. Translation: AAQ97610.1.
AF137376 mRNA. Translation: AAD33729.1.
AF137377 mRNA. Translation: AAD33730.1.
AY027898
, AY027893, AY027894, AY027895, AY027896, AY027897 Genomic DNA. Translation: AAK16994.1.
AF465485 mRNA. Translation: AAL73495.1.
AL360231
, AL139814, AL450364, AL450384 Genomic DNA. Translation: CAH70125.1.
AL139814
, AL360231, AL450364, AL450384 Genomic DNA. Translation: CAH71352.1.
AL450384
, AL139814, AL360231, AL450364 Genomic DNA. Translation: CAH73209.1.
AL450364
, AL139814, AL360231, AL450384 Genomic DNA. Translation: CAI14734.1.
AL390783
, AL139814, AL450364, AL450384 Genomic DNA. Translation: CAH70065.1.
AL390783
, AL139814, AL450364, AL450384 Genomic DNA. Translation: CAH70066.1.
AL360231
, AL139814, AL450364, AL450384 Genomic DNA. Translation: CAH70126.1.
AL139814
, AL390783, AL450364, AL450384 Genomic DNA. Translation: CAH71350.1.
AL139814
, AL390783, AL450364, AL450384 Genomic DNA. Translation: CAH71351.1.
AL139814
, AL360231, AL450364, AL450384 Genomic DNA. Translation: CAH71353.1.
AL450384
, AL139814, AL390783, AL450364 Genomic DNA. Translation: CAH73207.1.
AL450384
, AL139814, AL390783, AL450364 Genomic DNA. Translation: CAH73208.1.
AL450384
, AL139814, AL360231, AL450364 Genomic DNA. Translation: CAH73210.1.
AL450364
, AL139814, AL390783, AL450384 Genomic DNA. Translation: CAI14732.1.
AL450364
, AL139814, AL390783, AL450384 Genomic DNA. Translation: CAI14733.1.
AL450364
, AL139814, AL360231, AL450384 Genomic DNA. Translation: CAI14735.1.
AL390783
, AL139814, AL450364, AL450384 Genomic DNA. Translation: CAO03475.1.
AL450384
, AL139814, AL360231, AL450364 Genomic DNA. Translation: CAO03513.1.
AL450384
, AL139814, AL360231, AL450364 Genomic DNA. Translation: CAO03515.1.
AL450384
, AL139814, AL390783, AL450364 Genomic DNA. Translation: CAO03516.1.
AL139814
, AL360231, AL450364, AL450384 Genomic DNA. Translation: CAO03603.1.
AL139814
, AL360231, AL450364, AL450384 Genomic DNA. Translation: CAO03605.1.
AL139814
, AL390783, AL450364, AL450384 Genomic DNA. Translation: CAO03606.1.
AL450364
, AL139814, AL360231, AL450384 Genomic DNA. Translation: CAO03634.1.
AL450364
, AL139814, AL360231, AL450384 Genomic DNA. Translation: CAO03636.1.
AL450364
, AL139814, AL390783, AL450384 Genomic DNA. Translation: CAO03637.1.
AL360231
, AL139814, AL450364, AL450384 Genomic DNA. Translation: CAO03672.1.
AL360231
, AL139814, AL450364, AL450384 Genomic DNA. Translation: CAO03674.1.
AL353603 Genomic DNA. No translation available.
CH471072 Genomic DNA. Translation: EAW86196.1.
CH471072 Genomic DNA. Translation: EAW86197.1.
BC136409 mRNA. Translation: AAI36410.1.
CCDSiCCDS41493.1. [Q08289-9]
CCDS41494.1. [Q08289-3]
CCDS7125.1. [Q08289-1]
CCDS7126.1. [Q08289-8]
CCDS7127.1. [Q08289-4]
CCDS7128.1. [Q08289-2]
CCDS7129.1. [Q08289-5]
PIRiA48895.
RefSeqiNP_000715.2. NM_000724.3. [Q08289-2]
NP_963864.1. NM_201570.2. [Q08289-5]
NP_963865.2. NM_201571.3. [Q08289-4]
NP_963866.2. NM_201572.3. [Q08289-9]
NP_963884.2. NM_201590.2. [Q08289-3]
NP_963887.2. NM_201593.2. [Q08289-7]
NP_963890.2. NM_201596.2. [Q08289-1]
NP_963891.1. NM_201597.2. [Q08289-8]
UniGeneiHs.59093.

Genome annotation databases

EnsembliENST00000282343; ENSP00000282343; ENSG00000165995. [Q08289-4]
ENST00000324631; ENSP00000320025; ENSG00000165995. [Q08289-1]
ENST00000352115; ENSP00000344474; ENSG00000165995. [Q08289-8]
ENST00000377315; ENSP00000366532; ENSG00000165995. [Q08289-5]
ENST00000377319; ENSP00000366536; ENSG00000165995. [Q08289-6]
ENST00000377329; ENSP00000366546; ENSG00000165995. [Q08289-3]
ENST00000377331; ENSP00000366548; ENSG00000165995. [Q08289-9]
ENST00000396576; ENSP00000379821; ENSG00000165995. [Q08289-2]
GeneIDi783.
KEGGihsa:783.
UCSCiuc001ipr.2. human. [Q08289-1]
uc001ips.2. human. [Q08289-8]
uc001ipt.2. human. [Q08289-7]
uc001ipu.3. human. [Q08289-4]
uc001ipv.3. human.
uc001ipw.2. human. [Q08289-6]
uc001ipx.2. human. [Q08289-2]
uc001ipy.2. human. [Q08289-3]

Polymorphism databases

DMDMi145559447.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
S60415 mRNA. Translation: AAB51370.1 . Frameshift.
U95019 mRNA. Translation: AAB53332.1 .
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 .
AY393858 mRNA. Translation: AAQ97606.1 .
AY393859 mRNA. Translation: AAQ97607.1 .
AY393860 mRNA. Translation: AAQ97608.1 .
AY393861 mRNA. Translation: AAQ97609.1 .
AY393862 mRNA. Translation: AAQ97610.1 .
AF137376 mRNA. Translation: AAD33729.1 .
AF137377 mRNA. Translation: AAD33730.1 .
AY027898
, AY027893 , AY027894 , AY027895 , AY027896 , AY027897 Genomic DNA. Translation: AAK16994.1 .
AF465485 mRNA. Translation: AAL73495.1 .
AL360231
, AL139814 , AL450364 , AL450384 Genomic DNA. Translation: CAH70125.1 .
AL139814
, AL360231 , AL450364 , AL450384 Genomic DNA. Translation: CAH71352.1 .
AL450384
, AL139814 , AL360231 , AL450364 Genomic DNA. Translation: CAH73209.1 .
AL450364
, AL139814 , AL360231 , AL450384 Genomic DNA. Translation: CAI14734.1 .
AL390783
, AL139814 , AL450364 , AL450384 Genomic DNA. Translation: CAH70065.1 .
AL390783
, AL139814 , AL450364 , AL450384 Genomic DNA. Translation: CAH70066.1 .
AL360231
, AL139814 , AL450364 , AL450384 Genomic DNA. Translation: CAH70126.1 .
AL139814
, AL390783 , AL450364 , AL450384 Genomic DNA. Translation: CAH71350.1 .
AL139814
, AL390783 , AL450364 , AL450384 Genomic DNA. Translation: CAH71351.1 .
AL139814
, AL360231 , AL450364 , AL450384 Genomic DNA. Translation: CAH71353.1 .
AL450384
, AL139814 , AL390783 , AL450364 Genomic DNA. Translation: CAH73207.1 .
AL450384
, AL139814 , AL390783 , AL450364 Genomic DNA. Translation: CAH73208.1 .
AL450384
, AL139814 , AL360231 , AL450364 Genomic DNA. Translation: CAH73210.1 .
AL450364
, AL139814 , AL390783 , AL450384 Genomic DNA. Translation: CAI14732.1 .
AL450364
, AL139814 , AL390783 , AL450384 Genomic DNA. Translation: CAI14733.1 .
AL450364
, AL139814 , AL360231 , AL450384 Genomic DNA. Translation: CAI14735.1 .
AL390783
, AL139814 , AL450364 , AL450384 Genomic DNA. Translation: CAO03475.1 .
AL450384
, AL139814 , AL360231 , AL450364 Genomic DNA. Translation: CAO03513.1 .
AL450384
, AL139814 , AL360231 , AL450364 Genomic DNA. Translation: CAO03515.1 .
AL450384
, AL139814 , AL390783 , AL450364 Genomic DNA. Translation: CAO03516.1 .
AL139814
, AL360231 , AL450364 , AL450384 Genomic DNA. Translation: CAO03603.1 .
AL139814
, AL360231 , AL450364 , AL450384 Genomic DNA. Translation: CAO03605.1 .
AL139814
, AL390783 , AL450364 , AL450384 Genomic DNA. Translation: CAO03606.1 .
AL450364
, AL139814 , AL360231 , AL450384 Genomic DNA. Translation: CAO03634.1 .
AL450364
, AL139814 , AL360231 , AL450384 Genomic DNA. Translation: CAO03636.1 .
AL450364
, AL139814 , AL390783 , AL450384 Genomic DNA. Translation: CAO03637.1 .
AL360231
, AL139814 , AL450364 , AL450384 Genomic DNA. Translation: CAO03672.1 .
AL360231
, AL139814 , AL450364 , AL450384 Genomic DNA. Translation: CAO03674.1 .
AL353603 Genomic DNA. No translation available.
CH471072 Genomic DNA. Translation: EAW86196.1 .
CH471072 Genomic DNA. Translation: EAW86197.1 .
BC136409 mRNA. Translation: AAI36410.1 .
CCDSi CCDS41493.1. [Q08289-9 ]
CCDS41494.1. [Q08289-3 ]
CCDS7125.1. [Q08289-1 ]
CCDS7126.1. [Q08289-8 ]
CCDS7127.1. [Q08289-4 ]
CCDS7128.1. [Q08289-2 ]
CCDS7129.1. [Q08289-5 ]
PIRi A48895.
RefSeqi NP_000715.2. NM_000724.3. [Q08289-2 ]
NP_963864.1. NM_201570.2. [Q08289-5 ]
NP_963865.2. NM_201571.3. [Q08289-4 ]
NP_963866.2. NM_201572.3. [Q08289-9 ]
NP_963884.2. NM_201590.2. [Q08289-3 ]
NP_963887.2. NM_201593.2. [Q08289-7 ]
NP_963890.2. NM_201596.2. [Q08289-1 ]
NP_963891.1. NM_201597.2. [Q08289-8 ]
UniGenei Hs.59093.

3D structure databases

ProteinModelPortali Q08289.
SMRi Q08289. Positions 90-216, 262-470.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

IntActi Q08289. 1 interaction.

Chemistry

ChEMBLi CHEMBL2363032.
DrugBanki DB00653. Magnesium Sulfate.
DB00661. Verapamil.

Protein family/group databases

TCDBi 8.A.22.1.2. the ca(2+) channel auxiliary subunit types 1-4 (cca-) family.

PTM databases

PhosphoSitei Q08289.

Polymorphism databases

DMDMi 145559447.

Proteomic databases

MaxQBi Q08289.
PaxDbi Q08289.
PRIDEi Q08289.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000282343 ; ENSP00000282343 ; ENSG00000165995 . [Q08289-4 ]
ENST00000324631 ; ENSP00000320025 ; ENSG00000165995 . [Q08289-1 ]
ENST00000352115 ; ENSP00000344474 ; ENSG00000165995 . [Q08289-8 ]
ENST00000377315 ; ENSP00000366532 ; ENSG00000165995 . [Q08289-5 ]
ENST00000377319 ; ENSP00000366536 ; ENSG00000165995 . [Q08289-6 ]
ENST00000377329 ; ENSP00000366546 ; ENSG00000165995 . [Q08289-3 ]
ENST00000377331 ; ENSP00000366548 ; ENSG00000165995 . [Q08289-9 ]
ENST00000396576 ; ENSP00000379821 ; ENSG00000165995 . [Q08289-2 ]
GeneIDi 783.
KEGGi hsa:783.
UCSCi uc001ipr.2. human. [Q08289-1 ]
uc001ips.2. human. [Q08289-8 ]
uc001ipt.2. human. [Q08289-7 ]
uc001ipu.3. human. [Q08289-4 ]
uc001ipv.3. human.
uc001ipw.2. human. [Q08289-6 ]
uc001ipx.2. human. [Q08289-2 ]
uc001ipy.2. human. [Q08289-3 ]

Organism-specific databases

CTDi 783.
GeneCardsi GC10P018469.
GeneReviewsi CACNB2.
HGNCi HGNC:1402. CACNB2.
HPAi HPA035326.
MIMi 600003. gene.
611876. phenotype.
neXtProti NX_Q08289.
Orphaneti 130. Brugada syndrome.
PharmGKBi PA88.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG326500.
HOVERGENi HBG050765.
InParanoidi Q08289.
KOi K04863.
OMAi DSAYVEP.
OrthoDBi EOG7966G4.
PhylomeDBi Q08289.
TreeFami TF316195.

Enzyme and pathway databases

Reactomei REACT_13606. Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels.
REACT_18312. NCAM1 interactions.
REACT_18325. Regulation of insulin secretion.
REACT_18339. Adrenaline,noradrenaline inhibits insulin secretion.
SignaLinki Q08289.

Miscellaneous databases

ChiTaRSi CACNB2. human.
GeneWikii CACNB2.
GenomeRNAii 783.
NextBioi 3172.
PROi Q08289.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q08289.
Bgeei Q08289.
Genevestigatori Q08289.

Family and domain databases

Gene3Di 3.40.50.300. 1 hit.
InterProi IPR008145. GK/Ca_channel_bsu.
IPR027417. P-loop_NTPase.
IPR001452. SH3_domain.
IPR005444. VDCC_L_b2su.
IPR000584. VDCC_L_bsu.
[Graphical view ]
PANTHERi PTHR11824. PTHR11824. 1 hit.
Pfami PF00625. Guanylate_kin. 1 hit.
PF12052. VGCC_beta4Aa_N. 1 hit.
[Graphical view ]
PRINTSi PR01626. LCACHANNELB.
PR01628. LCACHANNELB2.
SMARTi SM00072. GuKc. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view ]
SUPFAMi SSF50044. SSF50044. 2 hits.
SSF52540. SSF52540. 1 hit.
PROSITEi PS50002. SH3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2A).
    Tissue: Brain.
  3. "Novel functional properties of Ca(2+) channel beta subunits revealed by their expression in adult rat heart cells."
    Colecraft H.M., Alseikhan B., Takahashi S.X., Chaudhuri D., Mittman S., Yegnasubramanian V., Alvania R.S., Johns D.C., Marban E., Yue D.T.
    J. Physiol. (Lond.) 541:435-452(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2A; 2B; 2C; 2D AND 2E).
  4. "Molecular heterogeneity of calcium channel beta-subunits in canine and human heart: evidence for differential subcellular localization."
    Foell J.D., Balijepalli R.C., Delisle B.P., Yunker A.M.R., Robia S.L., Walker J.W., McEnery M.W., January C.T., Kamp T.J.
    Physiol. Genomics 17:183-200(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2B; 2C; 2H; 2CN2 AND 2CN4), ALTERNATIVE SPLICING, SUBCELLULAR LOCATION.
    Tissue: Heart.
  5. "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).
  6. "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).
  7. "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.
  8. "The DNA sequence and comparative analysis of human chromosome 10."
    Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
    , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
    Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  9. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  10. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  11. "Dominant negative suppression of Rad leads to QT prolongation and causes ventricular arrhythmias via modulation of L-type Ca2+ channels in the heart."
    Yada H., Murata M., Shimoda K., Yuasa S., Kawaguchi H., Ieda M., Adachi T., Murata M., Ogawa S., Fukuda K.
    Circ. Res. 101:69-77(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH RRAD.
  12. "Identification of IGPR-1 as a novel adhesion molecule involved in angiogenesis."
    Rahimi N., Rezazadeh K., Mahoney J.E., Hartsough E., Meyer R.D.
    Mol. Biol. Cell 23:1646-1656(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH TMIGD2.
  13. Cited for: VARIANT [LARGE SCALE ANALYSIS] GLY-99.
  14. "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.
    , Hsu L.F., Haissaguerre M., Schimpf R., Borggrefe M., Wolpert C.
    Circulation 115:442-449(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BRGDA4 LEU-535, CHARACTERIZATION OF VARIANT BRGDA4 LEU-535.

Entry informationi

Entry nameiCACB2_HUMAN
AccessioniPrimary (citable) accession number: Q08289
Secondary accession number(s): A6PVM5
, A6PVM7, A6PVM8, O00304, Q5QJ99, Q5QJA0, Q5VVG9, Q5VVH0, Q5VWV6, Q6TME1, Q6TME2, Q6TME3, Q8WX81, Q96NZ3, Q96NZ4, Q96NZ5, Q9BWU2, Q9HD32, Q9Y340, Q9Y341
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1994
Last sequence update: April 17, 2007
Last modified: September 3, 2014
This is version 149 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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