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Q08289

- CACB2_HUMAN

UniProt

Q08289 - CACB2_HUMAN

Protein

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

Gene

CACNB2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 150 (01 Oct 2014)
      Sequence version 3 (17 Apr 2007)
      Previous versions | rss
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    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-bindingBy 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

    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 By similarity; Peripheral membrane protein By similarity; Cytoplasmic side By similarity

    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

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 CaMK2DBy 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.By similarity2 Publications

    Protein-protein interaction databases

    IntActiQ08289. 1 interaction.

    Structurei

    3D structure databases

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

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini114 – 18370SH3PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 SH3 domain.PROSITE-ProRule annotation

    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti56 – 561D → N in AAQ97608. (PubMed:14762176)Curated
    Sequence conflicti69 – 691V → L in AAD33729. 1 PublicationCurated
    Sequence conflicti100 – 1012ER → Q in AAD33729. 1 PublicationCurated
    Sequence conflicti122 – 1221N → D in AAD33729. 1 PublicationCurated
    Sequence conflicti364 – 3641L → V in AAD33729. 1 PublicationCurated
    Sequence conflicti364 – 3641L → V in AAD33730. 1 PublicationCurated
    Sequence conflicti406 – 4061R → T in AAD33729. 1 PublicationCurated
    Sequence conflicti406 – 4061R → T in AAD33730. 1 PublicationCurated
    Sequence conflicti501 – 5011D → H in AAD33729. 1 PublicationCurated
    Sequence conflicti501 – 5011D → H in AAD33730. 1 PublicationCurated
    Sequence conflicti524 – 5241P → G in AAD33729. 1 PublicationCurated
    Sequence conflicti524 – 5241P → G in AAD33730. 1 PublicationCurated
    Sequence conflicti624 – 6241Q → QQ in AAD33729. 1 PublicationCurated
    Sequence conflicti624 – 6241Q → QQ in AAD33730. 1 PublicationCurated
    Sequence conflicti659 – 6591R → P in AAB53332. (PubMed:9254841)Curated
    Sequence conflicti659 – 6591R → P in AAG01473. (PubMed:12042350)Curated
    Sequence conflicti659 – 6591R → P in AAL16948. (PubMed:12042350)Curated
    Sequence conflicti659 – 6591R → P in AAL16951. (PubMed:12042350)Curated
    Sequence conflicti659 – 6591R → P in AAL16950. (PubMed:12042350)Curated
    Sequence conflicti659 – 6591R → P in AAQ97606. (PubMed:14762176)Curated
    Sequence conflicti659 – 6591R → P in AAQ97607. (PubMed:14762176)Curated
    Sequence conflicti659 – 6591R → P in AAQ97608. (PubMed:14762176)Curated
    Sequence conflicti659 – 6591R → P in AAQ97609. (PubMed:14762176)Curated
    Sequence conflicti659 – 6591R → P in AAQ97610. (PubMed:14762176)Curated
    Sequence conflicti659 – 6591R → P in AAL73495. 1 PublicationCurated

    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. 5 PublicationsVSP_000627Add
    BLAST
    Alternative sequencei1 – 7171MVQRD…SFVRQ → MLDRRLIAPQTKYIIPG in isoform 2b and isoform 2cN4. 2 PublicationsVSP_000628Add
    BLAST
    Alternative sequencei1 – 7171MVQRD…SFVRQ → MKATWIRLLKRAKGGRLKNS DIC in isoform 2e. 1 PublicationVSP_000629Add
    BLAST
    Alternative sequencei1 – 4040MVQRD…GAAAQ → MNQGSGLDLLKI in isoform 2c and isoform 2cN2. 2 PublicationsVSP_000626Add
    BLAST
    Alternative sequencei224 – 26845AIDID…PFFKK → AKQKQKS in isoform 2f and isoform 2g. 2 PublicationsVSP_000630Add
    BLAST
    Alternative sequencei224 – 26845AIDID…PFFKK → GAKSADEQDQWKTAGLFWRF T in isoform 2h, isoform 2cN2 and isoform 2cN4. 2 PublicationsVSP_000631Add
    BLAST

    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

    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: October 1, 2014
    This is version 150 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