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

Gene ID: 12293, updated on 21-Apr-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
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Genomic context

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)
  • Targeted (3)  1 citation
  • Endonuclease-mediated (4) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC141430

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 protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables voltage-gated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
contributes_to voltage-gated calcium channel activity ISO
Inferred from Sequence Orthology
more info
 
enables voltage-gated calcium channel activity ISO
Inferred from Sequence Orthology
more info
 
contributes_to voltage-gated calcium channel activity involved in bundle of His cell action potential ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in calcium ion transmembrane transport ISO
Inferred from Sequence Orthology
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 transport ISO
Inferred from Sequence Orthology
more info
 
involved_in calcium ion transport into cytosol ISO
Inferred from Sequence Orthology
more info
 
involved_in cardiac muscle cell action potential involved in contraction ISO
Inferred from Sequence Orthology
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 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
 
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 membrane repolarization during action potential ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of ventricular cardiac muscle cell membrane repolarization ISO
Inferred from Sequence Orthology
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
 
located_in T-tubule IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in glutamatergic synapse ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
part_of monoatomic ion channel complex IEA
Inferred from Electronic Annotation
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
    UniProtKB/TrEMBL
    E9Q1X8
    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, E9Q1X8
    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
    E9Q1X8, 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
    UniProtKB/TrEMBL
    E9Q1X8
    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
    UniProtKB/TrEMBL
    E9Q1X8
    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

    UniProtKB/TrEMBL
    E9Q1X8
    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