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

    Gene ID: 783, updated on 17-Jun-2019

    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
    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
    109.20190607 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 FunctionsWhat's a GeneRIF?

    Phenotypes

    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
    Biological insights from 108 schizophrenia-associated genetic loci.
    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

    Pathways from BioSystems

    • Adrenaline,noradrenaline inhibits insulin secretion, organism-specific biosystem (from REACTOME)
      Adrenaline,noradrenaline inhibits insulin secretion, organism-specific biosystemThe catecholamines adrenaline (epinephrine) and noradrenaline (norepinephrine) inhibit insulin secretion from pancreatic beta cells. Four effects are seen in the cells:1. Inhibition of exocytosis of ...
    • Adrenergic signaling in cardiomyocytes, organism-specific biosystem (from KEGG)
      Adrenergic signaling in cardiomyocytes, organism-specific biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
    • Adrenergic signaling in cardiomyocytes, conserved biosystem (from KEGG)
      Adrenergic signaling in cardiomyocytes, conserved biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
    • Arrhythmogenic Right Ventricular Cardiomyopathy, organism-specific biosystem (from WikiPathways)
      Arrhythmogenic Right Ventricular Cardiomyopathy, organism-specific biosystemAdapted from KEGG: http://www.genome.jp/kegg/pathway/hsa/hsa05412.html
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • Cardiac conduction, organism-specific biosystem (from REACTOME)
      Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
    • Cardiac muscle contraction, organism-specific biosystem (from KEGG)
      Cardiac muscle contraction, organism-specific biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
    • Cardiac muscle contraction, conserved biosystem (from KEGG)
      Cardiac muscle contraction, conserved biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
    • Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels, organism-specific biosystem (from REACTOME)
      Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels, organism-specific biosystemThe action potential travels down the axon and reaches the pre-synaptic terminal depolarizing the membrane in the pre-synaptic terminal. The depolarization causes the voltage-gated Ca2+ channels to ...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
      Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Dilated cardiomyopathy, conserved biosystem (from KEGG)
      Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Integration of energy metabolism, organism-specific biosystem (from REACTOME)
      Integration of energy metabolism, organism-specific biosystemMany hormones that affect individual physiological processes including the regulation of appetite, absorption, transport, and oxidation of foodstuffs influence energy metabolism pathways. While insul...
    • MAPK signaling pathway, organism-specific biosystem (from KEGG)
      MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • MAPK signaling pathway, conserved biosystem (from KEGG)
      MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Muscle contraction, organism-specific biosystem (from REACTOME)
      Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
    • NCAM signaling for neurite out-growth, organism-specific biosystem (from REACTOME)
      NCAM signaling for neurite out-growth, organism-specific biosystemThe neural cell adhesion molecule, NCAM, is a member of the immunoglobulin (Ig) superfamily and is involved in a variety of cellular processes of importance for the formation and maintenance of the n...
    • NCAM1 interactions, organism-specific biosystem (from REACTOME)
      NCAM1 interactions, organism-specific biosystemThe neural cell adhesion molecule, NCAM1 is generally considered as a cell adhesion mediator, but it is also considered to be a signal transducing receptor molecule. NCAM1 is involved in multiple cis...
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Oxytocin signaling pathway, organism-specific biosystem (from KEGG)
      Oxytocin signaling pathway, organism-specific biosystemOxytocin (OT) is a nonapeptide synthesized by the magno-cellular neurons located in the supraoptic (SON) and paraventricular (PVN) nuclei of the hypothalamus. It exerts a wide variety of central and ...
    • Oxytocin signaling pathway, conserved biosystem (from KEGG)
      Oxytocin signaling pathway, conserved biosystemOxytocin (OT) is a nonapeptide synthesized by the magno-cellular neurons located in the supraoptic (SON) and paraventricular (PVN) nuclei of the hypothalamus. It exerts a wide variety of central and ...
    • Phase 0 - rapid depolarisation, organism-specific biosystem (from REACTOME)
      Phase 0 - rapid depolarisation, organism-specific biosystemPhase 0 is the rapid depolarisation phase in which electrical stimulation of a cell initiates events involving the influx and efflux of ions resulting in the production of a cell's action potential. ...
    • Phase 2 - plateau phase, organism-specific biosystem (from REACTOME)
      Phase 2 - plateau phase, organism-specific biosystemPhase 2 of the cardiac action potential is the plateau phase which is sustained by a balance of Ca2+ influx through L-type Ca2+ channels (LTCCs) and K+ efflux through the slow delayed rectifier K+ ch...
    • Regulation of insulin secretion, organism-specific biosystem (from REACTOME)
      Regulation of insulin secretion, organism-specific biosystemPancreatic beta cells integrate signals from several metabolites and hormones to control the secretion of insulin. In general, glucose triggers insulin secretion while other factors can amplify or in...
    • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
      Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...

    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
    CAB2
    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
      5001..406083
      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
      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
      cl27059
      Location:232412
      Guanylate_kin; Guanylate kinase
    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 Annotation Release 109

    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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