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    Cacna2d3 calcium channel, voltage-dependent, alpha2/delta subunit 3 [ Mus musculus (house mouse) ]

    Gene ID: 12294, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Cacna2d3provided by MGI
    Official Full Name
    calcium channel, voltage-dependent, alpha2/delta subunit 3provided by MGI
    Primary source
    MGI:MGI:1338890
    See related
    Ensembl:ENSMUSG00000021991 AllianceGenome:MGI:1338890
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Cacnad3; alapha2delta3
    Summary
    Predicted to enable voltage-gated calcium channel activity. Involved in regulation of presynapse organization. Is active in GABA-ergic synapse and presynaptic active zone membrane. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and immune system. Orthologous to human CACNA2D3 (calcium voltage-gated channel auxiliary subunit alpha2delta 3). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in cortex adult (RPKM 15.3), CNS E18 (RPKM 9.9) and 8 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Cacna2d3 in Genome Data Viewer
    Location:
    14 A3; 14 16.8 cM
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (28626900..29444732, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (28904943..29722775, complement)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene ribosomal protein L5 pseudogene Neighboring gene predicted gene, 35217 Neighboring gene STARR-seq mESC enhancer starr_36285 Neighboring gene leucine-rich repeats and transmembrane domains 1 Neighboring gene STARR-seq mESC enhancer starr_36286 Neighboring gene peptidylprolyl isomerase A pseudogene 15 Neighboring gene STARR-seq mESC enhancer starr_36287 Neighboring gene STARR-seq mESC enhancer starr_36288 Neighboring gene STARR-seq mESC enhancer starr_36289 Neighboring gene STARR-seq mESC enhancer starr_36290 Neighboring gene STARR-seq mESC enhancer starr_36291 Neighboring gene predicted gene, 41118 Neighboring gene predicted gene, 57619 Neighboring gene predicted gene, 35281

    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 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. Molecular diversity of the calcium channel alpha2delta subunit. Klugbauer N, et al. J Neurosci, 1999 Jan 15. PMID 9880589, Free PMC Article
    2. α2δ3 is essential for normal structure and function of auditory nerve synapses and is a novel candidate for auditory processing disorders. Pirone A, et al. J Neurosci, 2014 Jan 8. PMID 24403143, Free PMC Article
    3. Altered population activity and local tuning heterogeneity in auditory cortex of Cacna2d3-deficient mice. Wadle SL, et al. Biol Chem, 2023 May 25. PMID 36342370
    4. α(2)δ-4 and Cachd1 Proteins Are Regulators of Presynaptic Functions. Ablinger C, et al. Int J Mol Sci, 2022 Aug 31. PMID 36077281, Free PMC Article
    5. Impaired Subcortical Processing of Amplitude-Modulated Tones in Mice Deficient for Cacna2d3, a Risk Gene for Autism Spectrum Disorders in Humans. Bracic G, et al. eNeuro, 2022 Mar-Apr. PMID 35410870, Free PMC Article

    See all (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Deletions of Cacna2d3 in parvalbumin-expressing neurons leads to autistic-like phenotypes in mice.
      Title: Deletions of Cacna2d3 in parvalbumin-expressing neurons leads to autistic-like phenotypes in mice.
    2. Altered population activity and local tuning heterogeneity in auditory cortex of Cacna2d3-deficient mice.
      Title: Altered population activity and local tuning heterogeneity in auditory cortex of Cacna2d3-deficient mice.
    3. Presynaptic alpha2delta subunits are key organizers of glutamatergic synapses.
      Title: Presynaptic α(2)δ subunits are key organizers of glutamatergic synapses.
    4. The data of this study demonstrate that knock out of CACN alpha2delta3 results in some structural abnormalities whose functional implications converge to dedifferentiation of sensory activation.
      Title: Neuroanatomy of pain-deficiency and cross-modal activation in calcium channel subunit (CACN) α2δ3 knockout mice.
    5. our results identify a novel role for the alpha2delta3 auxiliary subunit in the structure and function of specific synapses in the mammalian auditory pathway and in auditory processing disorders.
      Title: α2δ3 is essential for normal structure and function of auditory nerve synapses and is a novel candidate for auditory processing disorders.
    6. Mice mutant for the stj ortholog CACNA2D3 (alpha2delta3) exhibit impaired behavioral heat pain sensitivity.
      Title: A genome-wide Drosophila screen for heat nociception identifies α2δ3 as an evolutionarily conserved pain gene.
    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 transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of presynapse organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of presynapse organization 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 
    part_of monoatomic ion channel complex IEA
    Inferred from Electronic Annotation
    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
    		  

    General protein information

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

    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_009785.1 → NP_033915.1  voltage-dependent calcium channel subunit alpha-2/delta-3 precursor

      See identical proteins and their annotated locations for NP_033915.1

      Status: PROVISIONAL

      Source sequence(s)
      AJ010949
      UniProtKB/Swiss-Prot
      Q9Z1L5
      UniProtKB/TrEMBL
      A0A411ACY3
      Related
      ENSMUSP00000022567.8, ENSMUST00000022567.9
      Conserved Domains (4) summary
      cd01463
      Location:242 → 425
      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:452 → 548
      Cache_1; Cache domain
      pfam08399
      Location:113 → 229
      VWA_N; VWA N-terminal
      pfam08473
      Location:561 → 633
      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_000080.7 Reference GRCm39 C57BL/6J

      Range
      28626900..29444732 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036158421.1 → XP_036014314.1  voltage-dependent calcium channel subunit alpha-2/delta-3 isoform X3

      Conserved Domains (5) summary
      cd01463
      Location:242 → 395
      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 ...
      cd12912
      Location:472 → 586
      PDC2_MCP_like; second PDC (PhoQ/DcuS/CitA) domain of methyl-accepting chemotaxis proteins and similar domains
      cl38916
      Location:416 → 470
      HK_sensor; Sensor domains of Histidine Kinase receptors
      pfam08399
      Location:113 → 229
      VWA_N; VWA N-terminal
      pfam08473
      Location:619 → 1032
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd

    2. XM_011244938.4 → XP_011243240.1  voltage-dependent calcium channel subunit alpha-2/delta-3 isoform X2

      Conserved Domains (5) summary
      cd01463
      Location:242 → 395
      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 ...
      cd12912
      Location:478 → 592
      PDC2_MCP_like; second PDC (PhoQ/DcuS/CitA) domain of methyl-accepting chemotaxis proteins and similar domains
      pfam08399
      Location:113 → 229
      VWA_N; VWA N-terminal
      pfam08473
      Location:625 → 1038
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
      pfam02743
      Location:412 → 522
      dCache_1; Cache domain

    3. XM_006518486.5 → XP_006518549.1  voltage-dependent calcium channel subunit alpha-2/delta-3 isoform X1

      Conserved Domains (5) summary
      cd01463
      Location:242 → 425
      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 ...
      cd12912
      Location:502 → 616
      PDC2_MCP_like; second PDC (PhoQ/DcuS/CitA) domain of methyl-accepting chemotaxis proteins and similar domains
      pfam08399
      Location:113 → 229
      VWA_N; VWA N-terminal
      pfam08473
      Location:649 → 1062
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
      pfam02743
      Location:442 → 546
      dCache_1; Cache domain

    4. XM_030247616.2 → XP_030103476.1  voltage-dependent calcium channel subunit alpha-2/delta-3 isoform X4

      Conserved Domains (5) summary
      cd01463
      Location:148 → 331
      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 ...
      cd12912
      Location:414 → 528
      PDC2_MCP_like; second PDC (PhoQ/DcuS/CitA) domain of methyl-accepting chemotaxis proteins and similar domains
      pfam08399
      Location:19 → 135
      VWA_N; VWA N-terminal
      pfam08473
      Location:561 → 974
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
      pfam02743
      Location:348 → 458
      dCache_1; Cache domain

    RNA

    1. XR_001781093.3 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Z1L5.1 GenPept UniProtKB/Swiss-Prot:Q9Z1L5

    Gene LinkOut

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

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