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    Cacna2d2 calcium channel, voltage-dependent, alpha 2/delta subunit 2 [ Mus musculus (house mouse) ]

    Gene ID: 56808, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Cacna2d2provided by MGI
    Official Full Name
    calcium channel, voltage-dependent, alpha 2/delta subunit 2provided by MGI
    Primary source
    MGI:MGI:1929813
    See related
    Ensembl:ENSMUSG00000010066 AllianceGenome:MGI:1929813
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    du; td; a2d2; torpid; Cacna2d; mKIAA0558
    Summary
    Enables voltage-gated calcium channel activity. Involved in regulation of neurotransmitter receptor localization to postsynaptic specialization membrane. Acts upstream of or within several processes, including neuromuscular junction development; positive regulation of organ growth; and rhythmic synaptic transmission. Part of voltage-gated calcium channel complex. Is active in GABA-ergic synapse and presynaptic active zone membrane. Is expressed in several structures, including central nervous system; genitourinary system; heart; lip; and retina. Used to study epilepsy and idiopathic generalized epilepsy. Orthologous to human CACNA2D2 (calcium voltage-gated channel auxiliary subunit alpha2delta 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in cerebellum adult (RPKM 24.9), whole brain E14.5 (RPKM 22.0) and 10 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Cacna2d2 in Genome Data Viewer
    Location:
    9 F1; 9 58.02 cM
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (107276948..107406545)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (107399733..107529346)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_25171 Neighboring gene RIKEN cDNA 6430571L13 gene Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:107240678-107240861 Neighboring gene STARR-positive B cell enhancer ABC_E6801 Neighboring gene RIKEN cDNA 4930429P21 gene Neighboring gene HemK methyltransferase family member 1 Neighboring gene STARR-seq mESC enhancer starr_25172 Neighboring gene STARR-seq mESC enhancer starr_25173 Neighboring gene predicted gene 17141 Neighboring gene predicted gene, 34037 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:107417059-107417168 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:107423725-107423834 Neighboring gene STARR-positive B cell enhancer ABC_E10583 Neighboring gene STARR-positive B cell enhancer ABC_E10584 Neighboring gene transmembrane protein 115 Neighboring gene cytochrome b-561 domain containing 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. entla, a novel epileptic and ataxic Cacna2d2 mutant of the mouse. Brill J, et al. J Biol Chem, 2004 Feb 20. PMID 14660671
    2. The du(2J) mouse model of ataxia and absence epilepsy has deficient cannabinoid CB₁ receptor-mediated signalling. Wang X, et al. J Physiol, 2013 Aug 15. PMID 23732642, Free PMC Article
    3. α2δ-2 Protein Controls Structure and Function at the Cerebellar Climbing Fiber Synapse. Beeson KA, et al. J Neurosci, 2020 Mar 18. PMID 32086258, Free PMC Article
    4. The ducky mutation in Cacna2d2 results in altered Purkinje cell morphology and is associated with the expression of a truncated alpha 2 delta-2 protein with abnormal function. Brodbeck J, et al. J Biol Chem, 2002 Mar 8. PMID 11756448
    5. Genomic organization of the mouse and human alpha2delta2 voltage-dependent calcium channel subunit genes. Barclay J, et al. Mamm Genome, 2000 Dec. PMID 11130987

    See all (67) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Altered Hippocampal Activation in Seizure-Prone CACNA2D2 Knock-out Mice.
      Title: Altered Hippocampal Activation in Seizure-Prone CACNA2D2 Knock-out Mice.
    2. alpha2delta-2 is required for depolarization-induced suppression of excitation in Purkinje cells.
      Title: α2δ-2 is required for depolarization-induced suppression of excitation in Purkinje cells.
    3. Presynaptic alpha2delta subunits are key organizers of glutamatergic synapses.
      Title: Presynaptic α(2)δ subunits are key organizers of glutamatergic synapses.
    4. Cacna2d2 is a developmental switch that limits axon growth and regeneration. Cacna2d2 gene deletion or silencing promoted axon growth in vitro.
      Title: The Calcium Channel Subunit Alpha2delta2 Suppresses Axon Regeneration in the Adult CNS.
    5. Inner hair cells possess calcium channels that are essential for transmitting sound information into synaptic transmitter release. Voltage-gated calcium channels can coassemble with auxiliary subunit alpha2delta isoforms 1-4. We found that hair cells of the mouse express the auxiliary subunit alpha2delta2, which is needed for normal hearing thresholds. Using a mouse model with a mutant, nonfunctional alpha2delta2 prote...
      Title: α2δ2 Controls the Function and Trans-Synaptic Coupling of Cav1.3 Channels in Mouse Inner Hair Cells and Is Essential for Normal Hearing.
    6. all of the alpha(2)delta subunits studied, alpha(2)delta-1, alpha(2)delta-2, and alpha(2)delta-3, show all of the properties expected of glycosylphosphatidylinositol-anchored proteins, both when heterologously expressed and in native tissues.
      Title: The alpha2delta subunits of voltage-gated calcium channels form GPI-anchored proteins, a posttranslational modification essential for function.
    7. In mice, targeted disruption of Cacna2d2 led to growth retardation, reduced life span, ataxia, enhanced susceptibility to seizures, and cardiac abnormalities. Cacna2d2 may be involved in hereditary cerebellar ataxias and epileptic disorders in humans.
      Title: Cerebellar ataxia, seizures, premature death, and cardiac abnormalities in mice with targeted disruption of the Cacna2d2 gene.
    8. Cacna2d2 has a role in epilepsy and ataxia
      Title: entla, a novel epileptic and ataxic Cacna2d2 mutant of the mouse.
    9. We show that both mRNA and protein corresponding to this predicted transcript are expressed in du/du cerebellum and present in Purkinje cells
      Title: The ducky mutation in Cacna2d2 results in altered Purkinje cell morphology and is associated with the expression of a truncated alpha 2 delta-2 protein with abnormal function.
    10. Both alpha2delta-2 and CaV2.1 are normally associated with cholesterol-rich microdomains, and this influences their functionality.
      Title: The calcium channel alpha2delta-2 subunit partitions with CaV2.1 into lipid rafts in cerebellum: implications for localization and function.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically and radiation induced (1) 
    • Chemically induced (ENU) (2) 
    • Endonuclease-mediated (4) 
    • Spontaneous (4)  1 citation
    • Targeted (1)  1 citation

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables voltage-gated calcium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables voltage-gated calcium channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables voltage-gated calcium channel activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within calcium ion transport IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in calcium ion transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within muscle cell development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within neuromuscular junction development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of organ growth IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of organ growth IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of neurotransmitter receptor localization to postsynaptic specialization membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of neurotransmitter receptor localization to postsynaptic specialization membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within rhythmic synaptic transmission IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 
    located_in plasma membrane TAS
    Traceable Author Statement
    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 
    part_of voltage-gated calcium channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of voltage-gated calcium channel complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    voltage-dependent calcium channel subunit alpha-2/delta-2
    Names
    alpha 2 delta calcium channel subunit
    ducky
    protein ducky
    voltage-dependent calcium channel alpha2/delta-2
    voltage-gated calcium channel subunit alpha-2/delta-2

    NCBI Reference Sequences (RefSeq)

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    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_001174047.2 → NP_001167518.1  voltage-dependent calcium channel subunit alpha-2/delta-2 isoform 1 precursor

      Status: VALIDATED

      Source sequence(s)
      AL672219, AL731803
      Consensus CDS
      CCDS72304.1
      Related
      ENSMUSP00000132512.2, ENSMUST00000168532.8
      Conserved Domains (4) summary
      cd01463
      Location:280 → 459
      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:488 → 576
      Cache_1; Cache domain
      pfam08399
      Location:144 → 268
      VWA_N; VWA N-terminal
      pfam08473
      Location:583 → 666
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd

    2. NM_001174048.2 → NP_001167519.1  voltage-dependent calcium channel subunit alpha-2/delta-2 isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AL672219, AL731803
      Consensus CDS
      CCDS72305.1
      UniProtKB/TrEMBL
      A0A411ACW5
      Related
      ENSMUSP00000125943.2, ENSMUST00000170737.3
      Conserved Domains (4) summary
      cd01463
      Location:280 → 459
      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:488 → 576
      Cache_1; Cache domain
      pfam08399
      Location:144 → 268
      VWA_N; VWA N-terminal
      pfam08473
      Location:583 → 667
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd

    3. NM_001174049.2 → NP_001167520.1  voltage-dependent calcium channel subunit alpha-2/delta-2 isoform 4 precursor

      See identical proteins and their annotated locations for NP_001167520.1

      Status: VALIDATED

      Source sequence(s)
      AL672219, AL731803
      UniProtKB/TrEMBL
      A0A411ACZ2
      Conserved Domains (4) summary
      cd01463
      Location:280 → 459
      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:488 → 576
      Cache_1; Cache domain
      pfam08399
      Location:144 → 268
      VWA_N; VWA N-terminal
      pfam08473
      Location:583 → 667
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd

    4. NM_001174050.2 → NP_001167521.1  voltage-dependent calcium channel subunit alpha-2/delta-2 isoform 5 precursor

      See identical proteins and their annotated locations for NP_001167521.1

      Status: VALIDATED

      Source sequence(s)
      AL672219, AL731803
      Consensus CDS
      CCDS52917.1
      Related
      ENSMUSP00000010210.7, ENSMUST00000010210.13
      Conserved Domains (4) summary
      cd01463
      Location:280 → 459
      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:488 → 576
      Cache_1; Cache domain
      pfam08399
      Location:144 → 268
      VWA_N; VWA N-terminal
      pfam08473
      Location:583 → 667
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd

    5. NM_020263.4 → NP_064659.2  voltage-dependent calcium channel subunit alpha-2/delta-2 isoform 2 precursor

      See identical proteins and their annotated locations for NP_064659.2

      Status: VALIDATED

      Source sequence(s)
      AL672219, AL731803
      Consensus CDS
      CCDS52916.1
      UniProtKB/Swiss-Prot
      B2RY16, Q3TPT9, Q3TSS6, Q6PHS9, Q6REE3, Q8C8R8, Q8CHE9, Q920H5, Q920H6, Q9EQG2, Q9R142
      UniProtKB/TrEMBL
      A0A411ACX9
      Related
      ENSMUSP00000082173.6, ENSMUST00000085092.12
      Conserved Domains (4) summary
      cd01463
      Location:280 → 459
      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:488 → 576
      Cache_1; Cache domain
      pfam08399
      Location:144 → 268
      VWA_N; VWA N-terminal
      pfam08473
      Location:583 → 666
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd

    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_000075.7 Reference GRCm39 C57BL/6J

      Range
      107276948..107406545
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017313496.3 → XP_017168985.1  voltage-dependent calcium channel subunit alpha-2/delta-2 isoform X1

      Conserved Domains (4) summary
      cd01463
      Location:280 → 459
      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 ...
      cl38916
      Location:536 → 648
      HK_sensor; Sensor domains of Histidine Kinase receptors
      pfam08399
      Location:144 → 268
      VWA_N; VWA N-terminal
      pfam08473
      Location:675 → 1120
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd

    2. XM_011242899.4 → XP_011241201.1  voltage-dependent calcium channel subunit alpha-2/delta-2 isoform X2

      Related
      ENSMUSP00000126029.2, ENSMUST00000166799.8
      Conserved Domains (4) summary
      cd01463
      Location:280 → 459
      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:144 → 268
      VWA_N; VWA N-terminal
      pfam08473
      Location:672 → 1117
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
      pfam02743
      Location:462 → 604
      dCache_1; Cache domain

    3. XM_017313497.3 → XP_017168986.1  voltage-dependent calcium channel subunit alpha-2/delta-2 isoform X3

      Conserved Domains (4) summary
      cd01463
      Location:280 → 459
      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:144 → 268
      VWA_N; VWA N-terminal
      pfam08473
      Location:665 → 1109
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
      pfam02743
      Location:462 → 604
      dCache_1; Cache domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PHS9.1 GenPept UniProtKB/Swiss-Prot:Q6PHS9

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