Format

Send to:

Choose Destination

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

Gene ID: 12293, updated on 12-May-2016
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 Vega:OTTMUSG00000055290
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; 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]
Orthologs
Location:
5 A2; 5 6.56 cM
Exon count:
44
Annotation release Status Assembly Chr Location
105 current GRCm38.p3 (GCF_000001635.23) 5 NC_000071.6 (15934691..16374511)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 5 NC_000071.5 (15440509..15880329)

Chromosome 5 - NC_000071.6Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4930519H02 gene Neighboring gene predicted gene 3510 Neighboring gene uncharacterized LOC105247040 Neighboring gene predicted gene, 29772 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Adrenergic signaling in cardiomyocytes, organism-specific biosystem (from KEGG)
    Adrenergic signaling in cardiomyocytes, organism-specific biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
  • Adrenergic signaling in cardiomyocytes, conserved biosystem (from KEGG)
    Adrenergic signaling in cardiomyocytes, conserved biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
  • Cardiac muscle contraction, organism-specific biosystem (from KEGG)
    Cardiac muscle contraction, organism-specific biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
  • Cardiac muscle contraction, conserved biosystem (from KEGG)
    Cardiac muscle contraction, conserved biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
  • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
    Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • Dilated cardiomyopathy, conserved biosystem (from KEGG)
    Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • MAPK signaling pathway, organism-specific biosystem (from KEGG)
    MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • MAPK signaling pathway, conserved biosystem (from KEGG)
    MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • Oxytocin signaling pathway, organism-specific biosystem (from KEGG)
    Oxytocin signaling pathway, organism-specific biosystemOxytocin (OT) is a nonapeptide synthesized by the magno-cellular neurons located in the supraoptic (SON) and paraventricular (PVN) nuclei of the hypothalamus. It exerts a wide variety of central and ...
  • Oxytocin signaling pathway, conserved biosystem (from KEGG)
    Oxytocin signaling pathway, conserved biosystemOxytocin (OT) is a nonapeptide synthesized by the magno-cellular neurons located in the supraoptic (SON) and paraventricular (PVN) nuclei of the hypothalamus. It exerts a wide variety of central and ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC141430

Gene Ontology Provided by MGI

Function Evidence Code Pubs
calcium channel activity IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
voltage-gated calcium channel activity ISO
Inferred from Sequence Orthology
more info
 
contributes_to voltage-gated calcium channel activity ISO
Inferred from Sequence Orthology
more info
 
voltage-gated ion channel activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
calcium ion transmembrane transport ISO
Inferred from Sequence Orthology
more info
 
calcium ion transmembrane transport via high voltage-gated calcium channel ISO
Inferred from Sequence Orthology
more info
 
calcium ion transport ISO
Inferred from Sequence Orthology
more info
 
calcium ion transport into cytosol ISO
Inferred from Sequence Orthology
more info
 
cardiac muscle cell action potential involved in contraction ISO
Inferred from Sequence Orthology
more info
 
ion transport IEA
Inferred from Electronic Annotation
more info
 
positive regulation of high voltage-gated calcium channel activity ISO
Inferred from Sequence Orthology
more info
 
regulation of calcium ion transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of calcium ion transport ISO
Inferred from Sequence Orthology
more info
 
regulation of heart rate by cardiac conduction ISO
Inferred from Sequence Orthology
more info
 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
regulation of membrane repolarization during action potential ISO
Inferred from Sequence Orthology
more info
 
regulation of ventricular cardiac muscle cell membrane repolarization ISO
Inferred from Sequence Orthology
more info
 
transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
L-type voltage-gated calcium channel complex ISO
Inferred from Sequence Orthology
more info
 
T-tubule IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome ISO
Inferred from Sequence Orthology
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular ISO
Inferred from Sequence Orthology
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
sarcoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
voltage-gated calcium channel complex ISO
Inferred from Sequence Orthology
more info
 
Preferred Names
voltage-dependent calcium channel subunit alpha-2/delta-1
Names
dihydropyridine-sensitive calcium channel alpha 2
voltage-gated calcium channel subunit alpha-2/delta-1

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
    UniProtKB/TrEMBL
    Q14BH8
    Related
    ENSMUSP00000049457, OTTMUSP00000072169, ENSMUST00000039370, OTTMUST00000136877
    Conserved Domains (5) summary
    pfam08473
    Location:562652
    VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
    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:446537
    Cache_1; Cache domain
    pfam08399
    Location:104223
    VWA_N; VWA N-terminal
    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/Swiss-Prot
    O08532
    UniProtKB/TrEMBL
    Q14BH8
    Related
    ENSMUSP00000099117, OTTMUSP00000072168, ENSMUST00000101581, OTTMUST00000136876
    Conserved Domains (5) summary
    pfam08473
    Location:543636
    VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
    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
    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/Swiss-Prot
    O08532
    UniProtKB/TrEMBL
    Q14BH8
    Related
    ENSMUSP00000136260, OTTMUSP00000072171, ENSMUST00000180204, OTTMUST00000136879
    Conserved Domains (5) summary
    pfam08473
    Location:538631
    VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
    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
    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/Swiss-Prot
    O08532
    UniProtKB/TrEMBL
    Q14BH8
    Related
    ENSMUSP00000142881, OTTMUSP00000072170, ENSMUST00000199704, OTTMUST00000136878
    Conserved Domains (5) summary
    pfam08473
    Location:538628
    VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
    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
    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/Swiss-Prot
    O08532
    UniProtKB/TrEMBL
    Q14BH8
    Related
    ENSMUSP00000077391, OTTMUSP00000072172, ENSMUST00000078272, OTTMUST00000136880
    Conserved Domains (5) summary
    pfam08473
    Location:543633
    VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
    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
    cl21471
    Location:623809
    RAMP_I_III; CRISPR/Cas system-associated RAMP superfamily protein

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 105 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm38.p3 C57BL/6J

Genomic

  1. NC_000071.6 Reference GRCm38.p3 C57BL/6J

    Range
    15934691..16374511
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011249744.1XP_011248046.1  

    Conserved Domains (5) summary
    pfam08473
    Location:562655
    VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
    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:446537
    Cache_1; Cache domain
    pfam08399
    Location:104223
    VWA_N; VWA N-terminal
    cl21471
    Location:655835
    RAMP_I_III; CRISPR/Cas system-associated RAMP superfamily protein
  2. XM_006535619.2XP_006535682.1  

    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 ...
    pfam02743
    Location:446530
    Cache_1; Cache domain
    pfam08399
    Location:104223
    VWA_N; VWA N-terminal
  3. XM_011249742.1XP_011248044.1  

    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_011249743.1XP_011248045.1  

    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 ...
  5. XM_011249741.1XP_011248043.1  

    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 ...
  6. XM_006535618.1XP_006535681.1  

    See identical proteins and their annotated locations for XP_006535681.1

    Conserved Domains (2) summary
    pfam08473
    Location:32122
    VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
    cl21471
    Location:112298
    RAMP_I_III; CRISPR/Cas system-associated RAMP superfamily protein

Alternate Mm_Celera

Genomic

  1. AC_000027.1 Alternate Mm_Celera

    Range
    12936968..13372202
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)