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

    Gene ID: 12293, updated on 9-Dec-2024

    Summary

    Official Symbol
    Cacna2d1provided by MGI
    Official Full Name
    calcium channel, voltage-dependent, alpha2/delta subunit 1provided by MGI
    Primary source
    MGI:MGI:88295
    See related
    Ensembl:ENSMUSG00000040118 AllianceGenome:MGI:88295
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; 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]
    Expression
    Biased expression in frontal lobe adult (RPKM 14.3), cortex adult (RPKM 11.8) and 14 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Cacna2d1 in Genome Data Viewer
    Location:
    5 A2- A3; 5 6.56 cM
    Exon count:
    43
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (16139390..16579509)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (15934264..16374511)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4930519H02 gene Neighboring gene STARR-seq mESC enhancer starr_12484 Neighboring gene predicted gene, 52852 Neighboring gene STARR-seq mESC enhancer starr_12485 Neighboring gene predicted gene 3510 Neighboring gene predicted gene 43000 Neighboring gene STARR-seq mESC enhancer starr_12487 Neighboring gene STARR-seq mESC enhancer starr_12488 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene predicted gene, 54320

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (5) 
    • Targeted (4)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC141430

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in calcium ion transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in calcium ion transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in calcium ion transmembrane transport via high voltage-gated calcium channel ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in calcium ion transmembrane transport via high voltage-gated calcium channel ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in calcium ion transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in calcium ion transport into cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in calcium ion transport into cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cardiac muscle cell action potential involved in contraction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cardiac muscle cell action potential involved in contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to amyloid-beta IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to amyloid-beta ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in membrane depolarization during bundle of His cell action potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in membrane depolarization during bundle of His cell action potential ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of calcium ion transmembrane transport via high voltage-gated calcium channel IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of calcium ion transmembrane transport via high voltage-gated calcium channel ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of calcium ion transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of calcium ion transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of heart rate by cardiac conduction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of heart rate by cardiac conduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of membrane repolarization during action potential ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of membrane repolarization during action potential ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of ventricular cardiac muscle cell membrane repolarization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of ventricular cardiac muscle cell membrane repolarization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in GABA-ergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in GABA-ergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    part_of L-type voltage-gated calcium channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of L-type voltage-gated calcium channel complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of L-type voltage-gated calcium channel complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in T-tubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in glutamatergic synapse ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in neuronal dense core vesicle EXP
    Inferred from Experiment
    more info
    PubMed 
    is_active_in neuronal dense core vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in postsynaptic membrane ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in presynaptic active zone membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in presynaptic active zone membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    is_active_in presynaptic active zone membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in sarcoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of voltage-gated calcium channel complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    part_of voltage-gated calcium channel complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    voltage-dependent calcium channel subunit alpha-2/delta-1
    Names
    dihydropyridine-sensitive calcium channel alpha 2
    voltage-dependent calcium channel alpha2/delta-1
    voltage-gated calcium channel subunit alpha-2/delta-1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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

      See identical proteins and their annotated locations for NP_001104313.1

      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, O08533, O08534, O08535, O08536
      Related
      ENSMUSP00000049457.8, ENSMUST00000039370.14
      Conserved Domains (5) summary
      cd01463
      Location:239417
      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:446536
      Cache_1; Cache domain
      pfam08399
      Location:104223
      VWA_N; VWA N-terminal
      pfam08473
      Location:562646
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
      cl21471
      Location:642828
      RAMP_I_III; CRISPR/Cas system-associated RAMP superfamily protein
    2. NM_001110844.1NP_001104314.1  voltage-dependent calcium channel subunit alpha-2/delta-1 isoform b preproprotein

      See identical proteins and their annotated locations for NP_001104314.1

      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/TrEMBL
      A0A411ACY8
      Related
      ENSMUSP00000099117.4, ENSMUST00000101581.10
      Conserved Domains (5) summary
      cd01463
      Location:239417
      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:446531
      Cache_1; Cache domain
      pfam08399
      Location:104223
      VWA_N; VWA N-terminal
      pfam08473
      Location:543627
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
      cl21471
      Location:636816
      RAMP_I_III; CRISPR/Cas system-associated RAMP superfamily protein
    3. NM_001110845.1NP_001104315.1  voltage-dependent calcium channel subunit alpha-2/delta-1 isoform c preproprotein

      See identical proteins and their annotated locations for NP_001104315.1

      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/TrEMBL
      Q14BH8
      Related
      ENSMUSP00000136260.2, ENSMUST00000180204.8
      Conserved Domains (5) summary
      cd01463
      Location:239417
      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:446530
      Cache_1; Cache domain
      pfam08399
      Location:104223
      VWA_N; VWA N-terminal
      pfam08473
      Location:538622
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
      cl21471
      Location:631811
      RAMP_I_III; CRISPR/Cas system-associated RAMP superfamily protein
    4. NM_001110846.1NP_001104316.1  voltage-dependent calcium channel subunit alpha-2/delta-1 isoform d preproprotein

      See identical proteins and their annotated locations for NP_001104316.1

      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
      Consensus CDS
      CCDS80212.1
      Related
      ENSMUSP00000142881.2, ENSMUST00000199704.5
      Conserved Domains (5) summary
      cd01463
      Location:239417
      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:446530
      Cache_1; Cache domain
      pfam08399
      Location:104223
      VWA_N; VWA N-terminal
      pfam08473
      Location:538622
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
      cl21471
      Location:618804
      RAMP_I_III; CRISPR/Cas system-associated RAMP superfamily protein
    5. NM_009784.2NP_033914.1  voltage-dependent calcium channel subunit alpha-2/delta-1 isoform e preproprotein

      See identical proteins and their annotated locations for NP_033914.1

      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
      Related
      ENSMUSP00000077391.7, ENSMUST00000078272.13
      Conserved Domains (5) summary
      cd01463
      Location:239417
      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:446531
      Cache_1; Cache domain
      pfam08399
      Location:104223
      VWA_N; VWA N-terminal
      pfam08473
      Location:543627
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
      cl21471
      Location:623809
      RAMP_I_III; CRISPR/Cas system-associated RAMP superfamily protein

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      16139390..16579509
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036164761.1XP_036020654.1  voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X6

      Conserved Domains (2) summary
      pfam08399
      Location:104223
      VWA_N; VWA N-terminal
      cl00057
      Location:239295
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    2. XM_011249743.4XP_011248045.1  voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X7

      Conserved Domains (2) summary
      pfam08399
      Location:104223
      VWA_N; VWA N-terminal
      cl00057
      Location:239293
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    3. XM_011249741.4XP_011248043.1  voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X5

      Conserved Domains (2) summary
      pfam08399
      Location:104223
      VWA_N; VWA N-terminal
      cl00057
      Location:239293
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    4. XM_011249744.4XP_011248046.1  voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X1

      Conserved Domains (4) summary
      cd01463
      Location:239417
      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 ...
      pfam08399
      Location:104223
      VWA_N; VWA N-terminal
      pfam08473
      Location:6511079
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
      pfam02743
      Location:437622
      dCache_1; Cache domain
    5. XM_006535619.5XP_006535682.1  voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X4

      Conserved Domains (3) summary
      cd01463
      Location:239417
      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 ...
      pfam08399
      Location:104223
      VWA_N; VWA N-terminal
      pfam02743
      Location:437526
      dCache_1; Cache domain
    6. XM_006535618.1XP_006535681.1  voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X3

      See identical proteins and their annotated locations for XP_006535681.1

      Conserved Domains (1) summary
      pfam08473
      Location:114542
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
    7. XM_017320631.1XP_017176120.1  voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X2

      Conserved Domains (1) summary
      pfam08473
      Location:121549
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd