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    Cacna2d1 calcium channel, voltage-dependent, alpha2/delta subunit 1 [ Mus musculus (house mouse) ]

    Gene ID: 12293, updated on 18-May-2013
    Official Symbol
    Cacna2d1provided by MGI
    Official Full Name
    calcium channel, voltage-dependent, alpha2/delta subunit 1provided by MGI
    Primary source
    MGI:88295
    See related
    Ensembl:ENSMUSG00000040118
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Cacna2; Cchl2a; Ca(v)alpha2delta1
    Summary
    This gene encodes a regulatory component of the voltage-dependent calcium channel complex. The product of this gene is a proprotein that is proteolytically processed into alpha-2 and delta subunits, which are linked by a disulfide bond. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]
    Location :
    5 A2; 5 6.56 cM
    Sequence :
    Chromosome: 5; NC_000071.6 (15934691..16374511)
    See Cacna2d1 in Epigenomics, MapViewer

    Chromosome 5 - NC_000071.6Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4930519H02 gene Neighboring gene 60S ribosomal protein L19-like Neighboring gene predicted gene 3510 Neighboring gene uncharacterized LOC101056070 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:198437 BioGRID:200268 Htt    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    • 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 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...
    • 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...

    Markers

    Homology

    Clone Names

    • MGC141430

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    calcium channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    ion channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    voltage-gated calcium channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    voltage-gated ion channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    calcium ion transport ISO
    Inferred from Sequence Orthology
    more info
     
    ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of calcium ion transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of calcium ion transport ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    T-tubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    sarcoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    voltage-gated calcium channel complex ISO
    Inferred from Sequence Orthology
    more info
     
    Preferred Names
    voltage-dependent calcium channel subunit alpha-2/delta-1
    Names
    voltage-dependent calcium channel subunit alpha-2/delta-1
    dihydropyridine-sensitive calcium channel alpha 2
    voltage-gated calcium channel subunit alpha-2/delta-1

    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_001110843.1NP_001104313.1  voltage-dependent calcium channel subunit alpha-2/delta-1 isoform a preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (a) represents the longest transcript and encodes the longest isoform (a), which is processed into alpha-2a and delta-1 subunits.
      Source sequence(s)
      AC158586, AK164580, BC115871
      Consensus CDS
      CCDS51421.1
      UniProtKB/Swiss-Prot
      O08532
      Related
      ENSMUSP00000049457, ENSMUST00000039370
      Conserved Domains (4) summary
      cd01463
      Location:239417
      Blast Score: 644
      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 ...
      pfam08473
      Location:562652
      Blast Score: 420
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
      pfam02743
      Location:446537
      Blast Score: 257
      Cache_1; Cache domain
      pfam08399
      Location:104223
      Blast Score: 455
      VWA_N; VWA N-terminal
    2. NM_001110844.1NP_001104314.1  voltage-dependent calcium channel subunit alpha-2/delta-1 isoform b preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (b) lacks an exon and contains an alternate exon in the coding region, but maintains the reading frame, compared to variant a. The encoded isoform (b), is shorter than isoform a, and is processed into alpha-2b and delta-1 subunits.
      Source sequence(s)
      AC158586, AK164580, BC115871
      Consensus CDS
      CCDS51422.1
      UniProtKB/Swiss-Prot
      O08532
      Related
      ENSMUSP00000099117, ENSMUST00000101581
      Conserved Domains (4) summary
      cd01463
      Location:239417
      Blast Score: 643
      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 ...
      pfam08473
      Location:543636
      Blast Score: 463
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
      pfam02743
      Location:446531
      Blast Score: 252
      Cache_1; Cache domain
      pfam08399
      Location:104223
      Blast Score: 455
      VWA_N; VWA N-terminal
    3. NM_001110845.1NP_001104315.1  voltage-dependent calcium channel subunit alpha-2/delta-1 isoform c preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (c) contains multiple differences in the coding region, but maintains the reading frame, compared to variant a. The encoded isoform (c) is shorter than isoform a, and is processed into alpha-2c and delta-1 subunits.
      Source sequence(s)
      AC158586, AK164580, BC115871
      Consensus CDS
      CCDS51423.1
      UniProtKB/Swiss-Prot
      O08532
      UniProtKB/TrEMBL
      Q14BH8
      Related
      ENSMUSP00000136260, ENSMUST00000180204
      Conserved Domains (4) summary
      cd01463
      Location:239417
      Blast Score: 644
      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 ...
      pfam08473
      Location:538631
      Blast Score: 463
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
      pfam02743
      Location:446530
      Blast Score: 248
      Cache_1; Cache domain
      pfam08399
      Location:104223
      Blast Score: 455
      VWA_N; VWA N-terminal
    4. NM_001110846.1NP_001104316.1  voltage-dependent calcium channel subunit alpha-2/delta-1 isoform d preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (d) lacks an exon and uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant a. The encoded isoform (d) is shorter than isoform a, and is processed into alpha-2d and delta-1 subunits.
      Source sequence(s)
      AC158586, AK164580, BC115871
      UniProtKB/Swiss-Prot
      O08532
      Conserved Domains (4) summary
      cd01463
      Location:239417
      Blast Score: 643
      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 ...
      pfam08473
      Location:538628
      Blast Score: 419
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
      pfam02743
      Location:446530
      Blast Score: 248
      Cache_1; Cache domain
      pfam08399
      Location:104223
      Blast Score: 454
      VWA_N; VWA N-terminal
    5. NM_009784.2NP_033914.1  voltage-dependent calcium channel subunit alpha-2/delta-1 isoform e preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (e) lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (e) is shorter than isoform a, and is processed into alpha-2e and delta-1 subunits.
      Source sequence(s)
      AC158586, AK164580, BC115871
      Consensus CDS
      CCDS19096.1
      UniProtKB/Swiss-Prot
      O08532
      Related
      ENSMUSP00000077391, ENSMUST00000078272
      Conserved Domains (4) summary
      cd01463
      Location:239417
      Blast Score: 643
      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 ...
      pfam08473
      Location:543633
      Blast Score: 419
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
      pfam02743
      Location:446531
      Blast Score: 252
      Cache_1; Cache domain
      pfam08399
      Location:104223
      Blast Score: 454
      VWA_N; VWA N-terminal

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 103

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

    Reference GRCm38.p1 C57BL/6J

    Genomic

    1. NC_000071.6 Reference GRCm38.p1 C57BL/6J

      Range
      15934691..16374511
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate Mm_Celera

    Genomic

    1. AC_000027.1 Alternate Mm_Celera

      Range
      12936968..13372202
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

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