U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 319734, updated on 30-Apr-2024

Summary

Go to the top of the page Help
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 act upstream of or within calcium ion transport and regulation of ion transmembrane transport. Predicted to be located in membrane. Predicted to be integral component of membrane. Predicted to be part of voltage-gated calcium channel complex. Is expressed in cerebellum; hippocampus; and telencephalon. Orthologous to human CACNA2D4 (calcium voltage-gated channel auxiliary subunit alpha2delta 4). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in thymus adult (RPKM 2.1), lung adult (RPKM 0.6) and 5 other tissues See more
Orthologs
human all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. 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
  2. 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
  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. 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
  5. α(2)δ-4 Is Required for the Molecular and Structural Organization of Rod and Cone Photoreceptor Synapses. Kerov V, et al. J Neurosci, 2018 Jul 4. PMID 29875267, Free PMC Article

See all (26) 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

Go to the top of the page Help

Alleles

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

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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 ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within calcium ion transport IEA
Inferred from Electronic Annotation
more info
  
involved_in detection of light stimulus involved in visual perception ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within monoatomic ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within monoatomic ion transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
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

Go to the top of the page Help
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)

Go to the top of the page Help

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_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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous