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    Cacna2d4 calcium channel, voltage-dependent, alpha 2/delta subunit 4 [ Mus musculus (house mouse) ]

    Gene ID: 319734, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Cacna2d4provided by MGI
    Official Full Name
    calcium channel, voltage-dependent, alpha 2/delta subunit 4provided by MGI
    Primary source
    MGI:MGI:2442632
    See related
    Ensembl:ENSMUSG00000041460 AllianceGenome:MGI:2442632
    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
    5730412N02Rik
    Summary
    Predicted to enable voltage-gated calcium channel activity. Predicted to be involved in calcium ion transmembrane transport and detection of light stimulus involved in visual perception. Predicted to be part of voltage-gated calcium channel complex. Is expressed in cerebellum; hippocampus; and telencephalon. Human ortholog(s) of this gene implicated in retinal cone dystrophy 4. Orthologous to human CACNA2D4 (calcium voltage-gated channel auxiliary subunit alpha2delta 4). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in thymus adult (RPKM 2.1), lung adult (RPKM 0.6) and 5 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Cacna2d4 in Genome Data Viewer
    Location:
    6 F1; 6 56.62 cM
    Exon count:
    41
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (119213435..119329368)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (119236524..119352407)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene calcium channel, voltage-dependent, L type, alpha 1C subunit Neighboring gene predicted gene, 50599 Neighboring gene STARR-seq mESC enhancer starr_17143 Neighboring gene STARR-positive B cell enhancer ABC_E10404 Neighboring gene decapping mRNA 1B Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:119286263-119286553 Neighboring gene predicted gene, 52874 Neighboring gene STARR-positive B cell enhancer ABC_E9099 Neighboring gene leucine-rich repeats and transmembrane domains 2 Neighboring gene adiponectin receptor 2 Neighboring gene STARR-seq mESC enhancer starr_17147 Neighboring gene STARR-seq mESC enhancer starr_17149 Neighboring gene wingless-type MMTV integration site family, member 5B Neighboring gene predicted gene, 40397

    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. Abnormalities of the photoreceptor-bipolar cell synapse in a substrain of C57BL/10 mice. Ruether K, et al. Invest Ophthalmol Vis Sci, 2000 Nov. PMID 11053310
    2. The voltage-gated Ca2+ channel subunit α2δ-4 regulates locomotor behavior and sensorimotor gating in mice. Klomp A, et al. PLoS One, 2022. PMID 35353835, Free PMC Article
    3. A New Splicing Isoform of Cacna2d4 Mimicking the Effects of c.2451insC Mutation in the Retina: Novel Molecular and Electrophysiological Insights. Bacchi N, et al. Invest Ophthalmol Vis Sci, 2015 Jul. PMID 26218913
    4. TMEM16A is associated with voltage-gated calcium channels in mouse retina and its function is disrupted upon mutation of the auxiliary α2δ4 subunit. Caputo A, et al. Front Cell Neurosci, 2015. PMID 26557056, Free PMC Article
    5. Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation. Wycisk KA, et al. Invest Ophthalmol Vis Sci, 2006 Aug. PMID 16877424

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Eliminating a2d4 in mice abolishes rod synaptogenesis and synaptic transmission to rod ON bipolar cells, and disrupts postsynaptic mGluR6 clustering. Further find , a2d4 is crucial for organizing synaptic ribbons and setting CaV1.4 voltage sensitivity. In cones, a2d4 is essential for CaV1.4 function, but is not required for ribbon organization, synaptogenesis, or synaptic transmission.
      Title: The Auxiliary Calcium Channel Subunit α2δ4 Is Required for Axonal Elaboration, Synaptic Transmission, and Wiring of Rod Photoreceptors.
    2. alpha2delta4 E25b splicing variant is normally present in mouse retina and mimics the effect of c.2451insC mutation.
      Title: A New Splicing Isoform of Cacna2d4 Mimicking the Effects of c.2451insC Mutation in the Retina: Novel Molecular and Electrophysiological Insights.
    3. The Cacna2d4 mutation underlies a novel channelopathy leading to cone-rod dysfunction in the visual system of mice
      Title: Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    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 calcium channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in calcium ion transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in detection of light stimulus involved in visual perception ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of monoatomic ion channel complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of voltage-gated calcium channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of voltage-gated calcium channel complex ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    voltage-dependent calcium channel subunit alpha-2/delta-4
    Names
    voltage-gated calcium channel subunit alpha-2/delta-4

    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_001033382.3 → NP_001028554.3  voltage-dependent calcium channel subunit alpha-2/delta-4 isoform 1 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC115816
      Consensus CDS
      CCDS51886.2
      UniProtKB/Swiss-Prot
      Q5RJF7
      UniProtKB/TrEMBL
      B9EIV3
      Related
      ENSMUSP00000158949.2, ENSMUST00000238905.2
      Conserved Domains (4) summary
      cd01463
      Location:256 → 439
      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:133 → 243
      VWA_N; VWA N-terminal
      pfam08473
      Location:666 → 1049
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
      cl38916
      Location:518 → 631
      HK_sensor; Sensor domains of Histidine Kinase receptors

    2. NM_001347427.2 → NP_001334356.2  voltage-dependent calcium channel subunit alpha-2/delta-4 isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. It encodes isoform 2 which is shorter compared to isoform 1.
      Source sequence(s)
      AC115816
      Consensus CDS
      CCDS85143.2
      UniProtKB/TrEMBL
      B9EIV3
      Related
      ENSMUSP00000140197.3, ENSMUST00000186622.3
      Conserved Domains (4) summary
      cd01463
      Location:256 → 439
      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:133 → 243
      VWA_N; VWA N-terminal
      pfam08473
      Location:641 → 1024
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
      cl38916
      Location:463 → 516
      HK_sensor; Sensor domains of Histidine Kinase receptors

    3. NM_001362214.2 → NP_001349143.1  voltage-dependent calcium channel subunit alpha-2/delta-4 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC115816
      UniProtKB/TrEMBL
      Q3UUW6
      Conserved Domains (1) summary
      pfam08473
      Location:28 → 208
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd

    4. NM_001404358.1 → NP_001391287.1  voltage-dependent calcium channel subunit alpha-2/delta-4 isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      AC115816

    5. NM_001404359.1 → NP_001391288.1  voltage-dependent calcium channel subunit alpha-2/delta-4 isoform 5 precursor

      Status: VALIDATED

      Source sequence(s)
      AC115816

    6. NM_001404360.1 → NP_001391289.1  voltage-dependent calcium channel subunit alpha-2/delta-4 isoform 6 precursor

      Status: VALIDATED

      Source sequence(s)
      AC115816

    7. NM_001404361.1 → NP_001391290.1  voltage-dependent calcium channel subunit alpha-2/delta-4 isoform 7 precursor

      Status: VALIDATED

      Source sequence(s)
      AC115816

    RNA

    1. NR_175839.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC115816

    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_000072.7 Reference GRCm39 C57BL/6J

      Range
      119213435..119329368
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030255452.2 → XP_030111312.1  voltage-dependent calcium channel subunit alpha-2/delta-4 isoform X2

      UniProtKB/TrEMBL
      Q3UUW6
      Conserved Domains (1) summary
      pfam08473
      Location:48 → 269
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd

    RNA

    1. XR_004942965.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5RJF7.1 GenPept UniProtKB/Swiss-Prot:Q5RJF7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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