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CACNB2 calcium channel, voltage-dependent, beta 2 subunit [ Homo sapiens (human) ]

Gene ID: 783, updated on 23-May-2015
Official Symbol
CACNB2provided by HGNC
Official Full Name
calcium channel, voltage-dependent, beta 2 subunitprovided by HGNC
Primary source
HGNC:HGNC:1402
See related
Ensembl:ENSG00000165995; HPRD:02473; MIM:600003; Vega:OTTHUMG00000017764
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MYSB; CAVB2; CACNLB2
Summary
This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013]
Orthologs
See CACNB2 in MapViewer
Location:
10p12
Exon count:
20
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 10 NC_000010.11 (18140677..18541759)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (18429373..18830688)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene mannose receptor, C type 1 Neighboring gene microRNA 511 Neighboring gene solute carrier family 39 (zinc transporter), member 12 Neighboring gene SLC39A12 antisense RNA 1 Neighboring gene uncharacterized LOC105376439 Neighboring gene NOP2/Sun domain family, member 6 Neighboring gene ADP-ribosylation factor-like 5B

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Brugada syndrome 4
MedGen: C2678477 OMIM: 611876 GeneReviews: Brugada Syndrome
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
NHGRI GWA Catalog
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
NHGRI GWA Catalog
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
NHGRI GWA Catalog
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
NHGRI GWA Catalog
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
NHGRI GWA Catalog
Genome-wide association study of blood pressure and hypertension.
NHGRI GWA Catalog
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
NHGRI GWA Catalog
Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
NHGRI GWA Catalog
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
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Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ23743

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium channel activity NAS
Non-traceable Author Statement
more info
PubMed 
contributes_to high voltage-gated calcium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
voltage-gated calcium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
axon guidance TAS
Traceable Author Statement
more info
 
calcium ion import IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
neuromuscular junction development TAS
Traceable Author Statement
more info
PubMed 
positive regulation of calcium ion transport IDA
Inferred from Direct Assay
more info
PubMed 
regulation of voltage-gated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
 
transport TAS
Traceable Author Statement
more info
PubMed 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
sarcolemma IEA
Inferred from Electronic Annotation
more info
 
voltage-gated calcium channel complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
voltage-dependent L-type calcium channel subunit beta-2
Names
voltage-dependent L-type calcium channel subunit beta-2
CAB2
calcium channel voltage-dependent subunit beta 2
lambert-Eaton myasthenic syndrome antigen B
myasthenic (Lambert-Eaton) syndrome antigen B

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016195.1 RefSeqGene

    Range
    5001..406083
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000724.3NP_000715.2  voltage-dependent L-type calcium channel subunit beta-2 isoform 1

    See identical proteins and their annotated locations for NP_000715.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AB208917, AL390783, AL450384
    Consensus CDS
    CCDS7128.1
    UniProtKB/Swiss-Prot
    Q08289
    UniProtKB/TrEMBL
    Q59H42
    Related
    ENSP00000379821, OTTHUMP00000019256, ENST00000396576, OTTHUMT00000047074
    Conserved Domains (4) summary
    cd12040
    Location:57125
    SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
    pfam00625
    Location:225405
    Guanylate_kin; Guanylate kinase
    pfam12052
    Location:1758
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl17190
    Location:235406
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
  2. NM_001167945.1NP_001161417.1  voltage-dependent L-type calcium channel subunit beta-2 isoform 9

    See identical proteins and their annotated locations for NP_001161417.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, and has multiple coding region differences compared to variant 1. The encoded isoform (9) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AK307526, AL450384
    Conserved Domains (4) summary
    cd12040
    Location:84152
    SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
    pfam00625
    Location:214394
    Guanylate_kin; Guanylate kinase
    pfam12052
    Location:4485
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl17190
    Location:224395
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
  3. NM_201570.2NP_963864.1  voltage-dependent L-type calcium channel subunit beta-2 isoform 7

    See identical proteins and their annotated locations for NP_963864.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (7) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AF423192, AL139814, AL450384
    Consensus CDS
    CCDS7129.1
    UniProtKB/Swiss-Prot
    Q08289
    UniProtKB/TrEMBL
    Q5VVH1
    Related
    ENSP00000366532, OTTHUMP00000019257, ENST00000377315, OTTHUMT00000047075
    Conserved Domains (4) summary
    cd12040
    Location:64132
    SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
    pfam00625
    Location:232412
    Guanylate_kin; Guanylate kinase
    pfam12052
    Location:2465
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl17190
    Location:242413
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
  4. NM_201571.3NP_963865.2  voltage-dependent L-type calcium channel subunit beta-2 isoform 6

    See identical proteins and their annotated locations for NP_963865.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at an alternate start codon, and has multiple coding region differences compared to variant 1. The encoded isoform (6) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AF423190, AL450384, DC307859, DC352526
    Consensus CDS
    CCDS7127.1
    UniProtKB/Swiss-Prot
    Q08289
    Related
    ENSP00000282343, OTTHUMP00000019255, ENST00000282343, OTTHUMT00000047073
    Conserved Domains (4) summary
    cd12040
    Location:84152
    SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
    pfam00625
    Location:252432
    Guanylate_kin; Guanylate kinase
    pfam12052
    Location:4485
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl17190
    Location:262433
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
  5. NM_201572.3NP_963866.2  voltage-dependent L-type calcium channel subunit beta-2 isoform 8

    See identical proteins and their annotated locations for NP_963866.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (8) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AL450384, AY393861, DC307859, DC352526
    Consensus CDS
    CCDS41493.1
    UniProtKB/Swiss-Prot
    Q08289
    Conserved Domains (4) summary
    cd12040
    Location:84152
    SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
    pfam00625
    Location:228408
    Guanylate_kin; Guanylate kinase
    pfam12052
    Location:4485
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl17190
    Location:238409
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
  6. NM_201590.2NP_963884.2  voltage-dependent L-type calcium channel subunit beta-2 isoform 3

    See identical proteins and their annotated locations for NP_963884.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AL450384, AY393859, DB235418
    Consensus CDS
    CCDS41494.1
    UniProtKB/Swiss-Prot
    Q08289
    Related
    ENSP00000366546, OTTHUMP00000196783, ENST00000377329, OTTHUMT00000317112
    Conserved Domains (4) summary
    cd12040
    Location:58126
    SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
    pfam00625
    Location:226406
    Guanylate_kin; Guanylate kinase
    pfam12052
    Location:1859
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl17190
    Location:236407
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
  7. NM_201593.2NP_963887.2  voltage-dependent L-type calcium channel subunit beta-2 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (5) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AF465485, AL119895, AL450384, S60415
    UniProtKB/Swiss-Prot
    Q08289
    Conserved Domains (4) summary
    cd12040
    Location:112180
    SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
    pfam00625
    Location:242422
    Guanylate_kin; Guanylate kinase
    pfam12052
    Location:72113
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl17190
    Location:252423
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
  8. NM_201596.2NP_963890.2  voltage-dependent L-type calcium channel subunit beta-2 isoform 2

    See identical proteins and their annotated locations for NP_963890.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon and includes an alternate in-frame exon compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AL450384, S60415
    Consensus CDS
    CCDS7125.1
    UniProtKB/Swiss-Prot
    Q08289
    Related
    ENSP00000320025, OTTHUMP00000019254, ENST00000324631, OTTHUMT00000047072
    Conserved Domains (4) summary
    cd12040
    Location:112180
    SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
    pfam00625
    Location:280460
    Guanylate_kin; Guanylate kinase
    pfam12052
    Location:72113
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl17190
    Location:290461
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
  9. NM_201597.2NP_963891.1  voltage-dependent L-type calcium channel subunit beta-2 isoform 4

    See identical proteins and their annotated locations for NP_963891.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon and includes an alternate in-frame exon compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
    Source sequence(s)
    AL450384, AY393860, S60415
    Consensus CDS
    CCDS7126.1
    UniProtKB/Swiss-Prot
    Q08289
    Conserved Domains (4) summary
    cd12040
    Location:112180
    SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
    pfam00625
    Location:256436
    Guanylate_kin; Guanylate kinase
    pfam12052
    Location:72113
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl17190
    Location:266437
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p2 Primary Assembly

    Range
    18140677..18541759
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011519660.1XP_011517962.1  

    See identical proteins and their annotated locations for XP_011517962.1

    Conserved Domains (4) summary
    cd12040
    Location:57125
    SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
    pfam00625
    Location:187367
    Guanylate_kin; Guanylate kinase
    pfam12052
    Location:1758
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl17190
    Location:197368
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
  2. XM_011519659.1XP_011517961.1  

    See identical proteins and their annotated locations for XP_011517961.1

    Conserved Domains (4) summary
    cd12040
    Location:58126
    SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
    pfam00625
    Location:202382
    Guanylate_kin; Guanylate kinase
    pfam12052
    Location:1859
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl17190
    Location:212383
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
  3. XM_006717502.2XP_006717565.1  

    See identical proteins and their annotated locations for XP_006717565.1

    Conserved Domains (4) summary
    cd12040
    Location:52120
    SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
    pfam00625
    Location:220400
    Guanylate_kin; Guanylate kinase
    pfam12052
    Location:1253
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl17190
    Location:230401
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
  4. XM_005252588.2XP_005252645.1  

    See identical proteins and their annotated locations for XP_005252645.1

    Related
    ENSP00000366536, OTTHUMP00000019258, ENST00000377319, OTTHUMT00000047076
    Conserved Domains (4) summary
    cd12040
    Location:64132
    SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
    pfam00625
    Location:194374
    Guanylate_kin; Guanylate kinase
    pfam12052
    Location:2465
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl17190
    Location:204375
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
  5. XM_005252591.2XP_005252648.1  

    See identical proteins and their annotated locations for XP_005252648.1

    Conserved Domains (2) summary
    pfam00625
    Location:1180
    Guanylate_kin; Guanylate kinase
    cl17190
    Location:10181
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 Alternate CHM1_1.1

    Range
    18429651..18830663
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)