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    CACNA2D3 calcium voltage-gated channel auxiliary subunit alpha2delta 3 [ Homo sapiens (human) ]

    Gene ID: 55799, updated on 2-Oct-2018

    Summary

    Official Symbol
    CACNA2D3provided by HGNC
    Official Full Name
    calcium voltage-gated channel auxiliary subunit alpha2delta 3provided by HGNC
    Primary source
    HGNC:HGNC:15460
    See related
    Ensembl:ENSG00000157445 MIM:606399; Vega:OTTHUMG00000158580
    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
    HSA272268
    Summary
    This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in brain (RPKM 3.0), adrenal (RPKM 1.8) and 16 other tissues See more
    Orthologs

    Genomic context

    See CACNA2D3 in Genome Data Viewer
    Location:
    3p21.1-p14.3
    Exon count:
    47
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (54122594..55074557)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (54156620..55108584)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377095 Neighboring gene calcium binding tyrosine phosphorylation regulated pseudogene 1 Neighboring gene uncharacterized LOC107986088 Neighboring gene ribosomal protein S15 pseudogene 5 Neighboring gene embryonic stem cell related Neighboring gene CACNA2D3 antisense RNA 1 Neighboring gene uncharacterized LOC107986089 Neighboring gene VISTA enhancer hs1436 Neighboring gene leucine rich repeats and transmembrane domains 1 Neighboring gene uncharacterized LOC105377097 Neighboring gene long intergenic non-protein coding RNA 2017

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
    NHGRI GWA Catalog
    Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.
    NHGRI GWA Catalog
    Genetics of coronary artery calcification among African Americans, a meta-analysis.
    NHGRI GWA Catalog
    Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?
    NHGRI GWA Catalog
    Genome-wide association study of antibody response to smallpox vaccine.
    NHGRI GWA Catalog
    Genome-wide association study of endometrial cancer in E2C2.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • 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...
    • 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 ...
    • 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...
    • 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...
    • 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.
    • 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...
    • 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,...

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    voltage-gated calcium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    voltage-gated calcium channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    voltage-dependent calcium channel subunit alpha-2/delta-3
    Names
    calcium channel alpha2-delta3 subunit
    calcium channel, voltage-dependent, alpha 2/delta 3 subunit
    calcium channel, voltage-dependent, alpha 2/delta subunit 3
    voltage-gated calcium channel subunit alpha-2/delta-3

    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.

    mRNA and Protein(s)

    1. NM_018398.2NP_060868.2  voltage-dependent calcium channel subunit alpha-2/delta-3 precursor

      See identical proteins and their annotated locations for NP_060868.2

      Status: REVIEWED

      Source sequence(s)
      AF516696, AJ272213, AW905454, BE768691, BG206136, BG213431, BI753834
      Consensus CDS
      CCDS54598.1
      UniProtKB/Swiss-Prot
      Q8IZS8
      Related
      ENSP00000419101.1, OTTHUMP00000213118, ENST00000474759.5, OTTHUMT00000351402
      Conserved Domains (4) summary
      cd01463
      Location:242425
      vWA_VGCC_like; VWA Voltage gated Calcium channel like: Voltage-gated calcium channels are a complex of five proteins: alpha 1, beta 1, gamma, alpha 2 and delta. The alpha 2 and delta subunits result from proteolytic processing of a single gene product and carries at ...
      pfam02743
      Location:470555
      dCache_1; Cache domain
      pfam08399
      Location:119229
      VWA_N; VWA N-terminal
      pfam08473
      Location:6551021
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

      Range
      54122594..55074557
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533946.2XP_011532248.1  voltage-dependent calcium channel subunit alpha-2/delta-3 isoform X3

      Conserved Domains (4) summary
      cd01463
      Location:242425
      vWA_VGCC_like; VWA Voltage gated Calcium channel like: Voltage-gated calcium channels are a complex of five proteins: alpha 1, beta 1, gamma, alpha 2 and delta. The alpha 2 and delta subunits result from proteolytic processing of a single gene product and carries at ...
      pfam02743
      Location:452548
      Cache_1; Cache domain
      pfam08399
      Location:113229
      VWA_N; VWA N-terminal
      pfam08473
      Location:561633
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
    2. XM_005265318.2XP_005265375.1  voltage-dependent calcium channel subunit alpha-2/delta-3 isoform X1

      See identical proteins and their annotated locations for XP_005265375.1

      Conserved Domains (4) summary
      cd01463
      Location:242425
      vWA_VGCC_like; VWA Voltage gated Calcium channel like: Voltage-gated calcium channels are a complex of five proteins: alpha 1, beta 1, gamma, alpha 2 and delta. The alpha 2 and delta subunits result from proteolytic processing of a single gene product and carries at ...
      pfam02743
      Location:452542
      Cache_1; Cache domain
      pfam08399
      Location:113229
      VWA_N; VWA N-terminal
      pfam08473
      Location:555627
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
    3. XM_017006850.1XP_016862339.1  voltage-dependent calcium channel subunit alpha-2/delta-3 isoform X2

    4. XM_011533947.2XP_011532249.1  voltage-dependent calcium channel subunit alpha-2/delta-3 isoform X4

      Conserved Domains (4) summary
      cd01463
      Location:242425
      vWA_VGCC_like; VWA Voltage gated Calcium channel like: Voltage-gated calcium channels are a complex of five proteins: alpha 1, beta 1, gamma, alpha 2 and delta. The alpha 2 and delta subunits result from proteolytic processing of a single gene product and carries at ...
      pfam02743
      Location:452548
      Cache_1; Cache domain
      pfam08399
      Location:113229
      VWA_N; VWA N-terminal
      pfam08473
      Location:561633
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
    5. XM_011533952.2XP_011532254.1  voltage-dependent calcium channel subunit alpha-2/delta-3 isoform X13

      Conserved Domains (3) summary
      cd01463
      Location:242425
      vWA_VGCC_like; VWA Voltage gated Calcium channel like: Voltage-gated calcium channels are a complex of five proteins: alpha 1, beta 1, gamma, alpha 2 and delta. The alpha 2 and delta subunits result from proteolytic processing of a single gene product and carries at ...
      pfam02743
      Location:452548
      Cache_1; Cache domain
      pfam08399
      Location:113229
      VWA_N; VWA N-terminal
    6. XM_011533949.2XP_011532251.1  voltage-dependent calcium channel subunit alpha-2/delta-3 isoform X8

      Conserved Domains (4) summary
      cd01463
      Location:242425
      vWA_VGCC_like; VWA Voltage gated Calcium channel like: Voltage-gated calcium channels are a complex of five proteins: alpha 1, beta 1, gamma, alpha 2 and delta. The alpha 2 and delta subunits result from proteolytic processing of a single gene product and carries at ...
      pfam02743
      Location:452548
      Cache_1; Cache domain
      pfam08399
      Location:113229
      VWA_N; VWA N-terminal
      pfam08473
      Location:561633
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
    7. XM_011533951.2XP_011532253.1  voltage-dependent calcium channel subunit alpha-2/delta-3 isoform X12

      Related
      ENSP00000417318.1, OTTHUMP00000213121, ENST00000477024.5, OTTHUMT00000351405
      Conserved Domains (3) summary
      cd01463
      Location:242425
      vWA_VGCC_like; VWA Voltage gated Calcium channel like: Voltage-gated calcium channels are a complex of five proteins: alpha 1, beta 1, gamma, alpha 2 and delta. The alpha 2 and delta subunits result from proteolytic processing of a single gene product and carries at ...
      pfam02743
      Location:452548
      Cache_1; Cache domain
      pfam08399
      Location:113229
      VWA_N; VWA N-terminal
    8. XM_017006852.1XP_016862341.1  voltage-dependent calcium channel subunit alpha-2/delta-3 isoform X7

    9. XM_011533950.2XP_011532252.1  voltage-dependent calcium channel subunit alpha-2/delta-3 isoform X11

      Conserved Domains (3) summary
      cd01463
      Location:242425
      vWA_VGCC_like; VWA Voltage gated Calcium channel like: Voltage-gated calcium channels are a complex of five proteins: alpha 1, beta 1, gamma, alpha 2 and delta. The alpha 2 and delta subunits result from proteolytic processing of a single gene product and carries at ...
      pfam02743
      Location:452548
      Cache_1; Cache domain
      pfam08399
      Location:113229
      VWA_N; VWA N-terminal
    10. XM_011533953.2XP_011532255.1  voltage-dependent calcium channel subunit alpha-2/delta-3 isoform X14

      Conserved Domains (3) summary
      cd01463
      Location:242425
      vWA_VGCC_like; VWA Voltage gated Calcium channel like: Voltage-gated calcium channels are a complex of five proteins: alpha 1, beta 1, gamma, alpha 2 and delta. The alpha 2 and delta subunits result from proteolytic processing of a single gene product and carries at ...
      pfam02743
      Location:452542
      Cache_1; Cache domain
      pfam08399
      Location:113229
      VWA_N; VWA N-terminal
    11. XM_024453640.1XP_024309408.1  voltage-dependent calcium channel subunit alpha-2/delta-3 isoform X5

      Related
      ENSP00000417279.1, ENST00000490478.5
      Conserved Domains (4) summary
      cd01463
      Location:148331
      vWA_VGCC_like; VWA Voltage gated Calcium channel like: Voltage-gated calcium channels are a complex of five proteins: alpha 1, beta 1, gamma, alpha 2 and delta. The alpha 2 and delta subunits result from proteolytic processing of a single gene product and carries at ...
      pfam02743
      Location:376461
      dCache_1; Cache domain
      pfam08399
      Location:25135
      VWA_N; VWA N-terminal
      pfam08473
      Location:561927
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
    12. XM_017006851.2XP_016862340.1  voltage-dependent calcium channel subunit alpha-2/delta-3 isoform X6

    13. XM_017006853.1XP_016862342.1  voltage-dependent calcium channel subunit alpha-2/delta-3 isoform X9

    14. XM_017006854.1XP_016862343.1  voltage-dependent calcium channel subunit alpha-2/delta-3 isoform X10

    15. XM_011533954.2XP_011532256.1  voltage-dependent calcium channel subunit alpha-2/delta-3 isoform X15

      Conserved Domains (2) summary
      pfam02743
      Location:173
      Cache_1; Cache domain
      pfam08473
      Location:86158
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
    16. XM_011533955.1XP_011532257.1  voltage-dependent calcium channel subunit alpha-2/delta-3 isoform X16

      Conserved Domains (1) summary
      pfam08473
      Location:73145
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd

    RNA

    1. XR_001740205.1 RNA Sequence

    2. XR_002959549.1 RNA Sequence

    3. XR_427281.2 RNA Sequence

    4. XR_940472.2 RNA Sequence

    5. XR_001740203.1 RNA Sequence

    6. XR_001740204.1 RNA Sequence

    7. XR_940473.2 RNA Sequence

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