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CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 [ Homo sapiens (human) ]

Gene ID: 783, updated on 10-Oct-2020

Summary

Official Symbol
CACNB2provided by HGNC
Official Full Name
calcium voltage-gated channel auxiliary subunit beta 2provided by HGNC
Primary source
HGNC:HGNC:1402
See related
Ensembl:ENSG00000165995 MIM:600003
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
CAB2; 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]
Expression
Ubiquitous expression in brain (RPKM 4.0), adrenal (RPKM 2.4) and 25 other tissues See more
Orthologs

Genomic context

See CACNB2 in Genome Data Viewer
Location:
10p12.33-p12.31
Exon count:
20
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (18140424..18545881)
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 SLC39A12 antisense RNA 1 Neighboring gene solute carrier family 39 member 12 Neighboring gene uncharacterized LOC107984213 Neighboring gene NOP2/Sun RNA methyltransferase 6 Neighboring gene uncharacterized LOC105376440 Neighboring gene ADP ribosylation factor like GTPase 5B Neighboring gene AIFM1 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
GeneReviews: Not available
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available
Brugada syndrome 4
MedGen: C2678477 OMIM: 611876 GeneReviews: Brugada Syndrome
Compare labs
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
GeneReviews: Not available
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
GeneReviews: Not available
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
GeneReviews: Not available
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
GeneReviews: Not available
Genome-wide association study of blood pressure and hypertension.
GeneReviews: Not available
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
GeneReviews: Not available
Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
GeneReviews: Not available
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23743

Gene Ontology Provided by GOA

Process Evidence Code Pubs
calcium ion import IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
cardiac conduction TAS
Traceable Author Statement
more info
 
chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
induction of synaptic vesicle exocytosis by positive regulation of presynaptic cytosolic calcium ion concentration IEA
Inferred from Electronic Annotation
more info
 
membrane depolarization during AV node cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane depolarization during atrial cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuromuscular junction development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of calcium ion transport IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of high voltage-gated calcium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
protein localization to plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of heart rate by cardiac conduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of voltage-gated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
L-type voltage-gated calcium channel complex IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
photoreceptor ribbon synapse IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
presynapse IEA
Inferred from Electronic Annotation
more info
 
voltage-gated calcium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated calcium channel complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
voltage-dependent L-type calcium channel subunit beta-2
Names
calcium channel voltage-dependent subunit beta 2
calcium channel, voltage-dependent, beta 2 subunit
lambert-Eaton myasthenic syndrome antigen B
myasthenic (Lambert-Eaton) syndrome antigen B

NCBI Reference Sequences (RefSeq)

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
    4748..407881
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000724.4NP_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) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 2. These differences cause translation initiation at an alternate start codon, and result in an isoform (1) with a shorter and distinct N-terminus, compared to isoform 2.
    Source sequence(s)
    AB208917, AL390783, AL450384
    Consensus CDS
    CCDS7128.1
    UniProtKB/Swiss-Prot
    Q08289
    UniProtKB/TrEMBL
    Q59H42
    Related
    ENSP00000379821.2, ENST00000396576.6
    Conserved Domains (4) summary
    cd12040
    Location:57125
    SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
    pfam12052
    Location:1758
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    pfam12782
    Location:483576
    Innate_immun; Invertebrate innate immunity transcript family
    cl27059
    Location:225405
    Guanylate_kin; Guanylate kinase
  2. NM_001167945.2NP_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) uses an alternate 5' terminal exon, lacks an alternate in-frame exon and contains an alternate in-frame exon in the 5' coding region, compared to variant 2. These differences cause translation initiation at an alternate start codon, and result in an isoform (9) with a shorter and distinct N-terminus, compared to isoform 2.
    Source sequence(s)
    AK307526, AL360231, AL450384
    Related
    ENSP00000494209.2, ENST00000643096.2
    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_001330060.2NP_001316989.1  voltage-dependent L-type calcium channel subunit beta-2 isoform 10

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) represents use of an alternate promoter, differs in the 5' UTR and 5' coding region, and uses an alternate internal in-frame exon compared to variant 2. These differences cause translation initiation at an alternate start codon and result in an isoform (10) that is shorter and has a distinct N-terminus compared to isoform 2.
    Source sequence(s)
    AF465485, AL390783, AL450384, BP311576
    Consensus CDS
    CCDS81442.1
    UniProtKB/Swiss-Prot
    Q08289
    Related
    ENSP00000366536.3, ENST00000377319.8
    Conserved Domains (4) summary
    cd12040
    Location:57125
    SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
    pfam12052
    Location:1758
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    pfam12782
    Location:445538
    Innate_immun; Invertebrate innate immunity transcript family
    cl27059
    Location:187367
    Guanylate_kin; Guanylate kinase
  4. NM_201570.3NP_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) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 2. These differences cause translation initiation at an alternate start codon, and result in an isoform (7) with a shorter and distinct N-terminus, compared to isoform 2.
    Source sequence(s)
    AF423192, AL139814, AL450384
    Consensus CDS
    CCDS7129.1
    UniProtKB/Swiss-Prot
    Q08289
    UniProtKB/TrEMBL
    Q5VVH1
    Related
    ENSP00000366532.4, ENST00000377315.5
    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
    pfam12782
    Location:490583
    Innate_immun; Invertebrate innate immunity transcript family
  5. NM_201571.4NP_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) uses an alternate 5' terminal exon and therefore differs in the 5' UTR and 5' coding region, compared to variant 2. These differences cause translation initiation at an alternate start codon, and result in an isoform (6) with a shorter and distinct N-terminus, compared to isoform 2.
    Source sequence(s)
    AF423190, AL360231, AL450384, DC307859, DC352526
    Consensus CDS
    CCDS7127.1
    UniProtKB/Swiss-Prot
    Q08289
    Related
    ENSP00000282343.8, ENST00000282343.13
    Conserved Domains (4) summary
    cd12040
    Location:84152
    SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
    pfam12052
    Location:4485
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    pfam12782
    Location:510603
    Innate_immun; Invertebrate innate immunity transcript family
    cl27059
    Location:252432
    Guanylate_kin; Guanylate kinase
  6. NM_201572.4NP_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) uses an alternate 5' terminal exon, lacks an alternate in-frame exon and contains an alternate in-frame exon in the 5' coding region, compared to variant 2. These differences cause translation initiation at an alternate start codon, and result in an isoform (8) with a shorter and distinct N-terminus, compared to isoform 2.
    Source sequence(s)
    AL360231, AL450384, AY393861, DC307859, DC352526
    Consensus CDS
    CCDS41493.1
    UniProtKB/Swiss-Prot
    Q08289
    Related
    ENSP00000496203.1, ENST00000645287.1
    Conserved Domains (4) summary
    cd12040
    Location:84152
    SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
    pfam12052
    Location:4485
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    pfam12782
    Location:486579
    Innate_immun; Invertebrate innate immunity transcript family
    cl27059
    Location:228408
    Guanylate_kin; Guanylate kinase
  7. NM_201590.3NP_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) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 2. These differences cause translation initiation at an alternate start codon, and result in an isoform (3) with a shorter and distinct N-terminus, compared to isoform 2.
    Source sequence(s)
    AL450384, AY393859, DB235418
    Consensus CDS
    CCDS41494.1
    UniProtKB/Swiss-Prot
    Q08289
    Related
    ENSP00000366546.4, ENST00000377329.9
    Conserved Domains (4) summary
    cd12040
    Location:58126
    SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
    pfam12052
    Location:1859
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    pfam12782
    Location:484577
    Innate_immun; Invertebrate innate immunity transcript family
    cl27059
    Location:226406
    Guanylate_kin; Guanylate kinase
  8. NM_201593.3NP_963887.2  voltage-dependent L-type calcium channel subunit beta-2 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate in-frame exon and contains an alternate in-frame exon, in the 5' coding region, compared to variant 2. The encoded isoform (5) is shorter than isoform 2.
    Source sequence(s)
    AF465485, AL119895, AL360231, 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 ...
  9. NM_201596.3NP_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) encodes the longest isoform (2).
    Source sequence(s)
    AL360231, AL450384, S60415
    Consensus CDS
    CCDS7125.1
    UniProtKB/Swiss-Prot
    Q08289
    Related
    ENSP00000320025.7, ENST00000324631.12
    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 ...
  10. NM_201597.3NP_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 contains an alternate in-frame exon, in the 5' coding region, compared to variant 2. The encoded isoform (4) is shorter than isoform 2.
    Source sequence(s)
    AL360231, AL450384, AY393860, S60415
    Consensus CDS
    CCDS7126.1
    UniProtKB/Swiss-Prot
    Q08289
    Related
    ENSP00000344474.6, ENST00000352115.10
    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 Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    18140424..18545881
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011519659.2XP_011517961.1  voltage-dependent L-type calcium channel subunit beta-2 isoform X2

    See identical proteins and their annotated locations for XP_011517961.1

    UniProtKB/Swiss-Prot
    Q08289
    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 ...
  2. XM_006717502.3XP_006717565.1  voltage-dependent L-type calcium channel subunit beta-2 isoform X1

    See identical proteins and their annotated locations for XP_006717565.1

    Related
    ENSP00000498938.1, ENST00000652391.1
    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 ...
  3. XM_005252588.4XP_005252645.1  voltage-dependent L-type calcium channel subunit beta-2 isoform X3

    See identical proteins and their annotated locations for XP_005252645.1

    Related
    ENSP00000498460.1, ENST00000650685.1
    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 ...
  4. XM_017016625.1XP_016872114.1  voltage-dependent L-type calcium channel subunit beta-2 isoform X4

    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 ...
  5. XM_005252591.3XP_005252648.1  voltage-dependent L-type calcium channel subunit beta-2 isoform X4

    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 ...

RNA

  1. XR_001747198.1 RNA Sequence

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