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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CACNA2D1 Gene

protein-coding   GIFtS: 65
GCID: GC07M081575

Calcium Channel, Voltage-Dependent, Alpha 2/Delta Subunit...


(Previous symbols: CACNL2A, CACNA2, MHS3)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Calcium Channel, Voltage-Dependent, Alpha 2/Delta Subunit 11 2     CCHL2A2 3
CACNL2A1 2 3 5     Calcium Channel, L Type, Alpha 2 Polypeptide2
CACNA21 2 5     Dihydropyridine-Sensitive L-Type, Calcium Channel Alpha-2/Delta Subunit2
MHS31 3     Voltage-Dependent Calcium Channel Subunit Alpha-2/Delta-12
Voltage-Gated Calcium Channel Subunit Alpha-2/Delta-12 3     

External Ids:    HGNC: 13991   Entrez Gene: 7812   Ensembl: ENSG000001539567   OMIM: 1142045   UniProtKB: P542893   

Export aliases for CACNA2D1 gene to outside databases

Previous GC identifers: GC07M080114 GC07M081177 GC07M081191 GC07M081224 GC07M081417 GC07M076182


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CACNA2D1 Gene:
This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel
complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist
of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Research on a highly similar
protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits.
Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly
characterized. (provided by RefSeq, Jul 2008)

GeneCards Summary for CACNA2D1 Gene: 
CACNA2D1 (calcium channel, voltage-dependent, alpha 2/delta subunit 1) is a protein-coding gene. Diseases associated with CACNA2D1 include short qt syndrome, and timothy syndrome, and among its related super-pathways are Hypertrophic cardiomyopathy (HCM) and PKC-Theta Pathway. GO annotations related to this gene include voltage-gated calcium channel activity and metal ion binding. An important paralog of this gene is CACNA2D4.

UniProtKB/Swiss-Prot: CA2D1_HUMAN, P54289
Function: The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and
activation/inactivation kinetics of the calcium channel. Plays an important role in excitation-contraction
coupling (By similarity)

Gene Wiki entry for CACNA2D1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007933.15  NC_018918.2  NT_079595.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CACNA2D1 gene promoter:
         HFH-3   FOXI1   USF1   POU2F1   USF-1   MyoD   Zic3   POU3F2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CACNA2D1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CACNA2D1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CACNA2D1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q21-q22   Ensembl cytogenetic band:  7q21.11   HGNC cytogenetic band: 7q21-q22

CACNA2D1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CACNA2D1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M081575:  view genomic region     (about GC identifiers)

Start:
81,575,760 bp from pter      End:
82,073,114 bp from pter
Size:
497,355 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 80,910,288-81,405,123     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CA2D1_HUMAN, P54289 (See protein sequence)
Recommended Name: Voltage-dependent calcium channel subunit alpha-2/delta-1 precursor  
Size: 1103 amino acids; 124568 Da
Subunit: Dimer formed of alpha-2-1 and delta-1 chains; disulfide-linked. Voltage-dependent calcium channels are
multisubunit complexes, consisting of alpha-1 (CACNA1), alpha-2 (CACNA2D), beta (CACNB) and delta (CACNA2D)
subunits in a 1:1:1:1 ratio (By similarity)
Subcellular location: Membrane; Single-pass type I membrane protein (Potential)
Miscellaneous: Binds gabapentin, an antiepileptic drug
Secondary accessions: Q17R45 Q9UD80 Q9UD81 Q9UD82
Alternative splicing: 5 isoforms:  P54289-1   P54289-2   P54289-3   P54289-4   P54289-5   

Explore the universe of human proteins at neXtProt for CACNA2D1: NX_P54289

Explore proteomics data for CACNA2D1 at MOPED 

Post-translational modifications:

  • UniProtKB: Proteolytically processed into subunits alpha-2-1 and delta-1 that are disulfide-linked (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P54289

  • CACNA2D1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CACNA2D1 Protein Expression
    REFSEQ proteins: NP_000713.2  
    ENSEMBL proteins: 
     ENSP00000349320   ENSP00000409374   ENSP00000405395   ENSP00000348589   ENSP00000443124  

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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005891voltage-gated calcium channel complex IDA11160515
    GO:0016529sarcoplasmic reticulum IEA--
    GO:0030315T-tubule IEA--

    CACNA2D1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CACN: Calcium channel subunits

    4 InterPro protein domains:
     IPR013680 VDCC_a2/dsu
     IPR004010 Cache_domain
     IPR013608 VWA_N
     IPR002035 VWF_A

    Graphical View of Domain Structure for InterPro Entry P54289

    ProtoNet protein and cluster: P54289

    4 Blocks protein domains:
    IPB002035 Von Willebrand factor type A domain signature
    IPB004010 Cache domain
    IPB013608 VWA N-terminal
    IPB013680 Voltage-dependent calcium channel


    UniProtKB/Swiss-Prot: CA2D1_HUMAN, P54289
    Domain: The MIDAS-like motif in the VWFA domain binds divalent metal cations and is required to promote
    trafficking of the alpha-1 (CACNA1) subunit to the plasma membrane by an integrin-like switch (By similarity)
    Similarity: Belongs to the calcium channel subunit alpha-2/delta family
    Similarity: Contains 1 cache domain
    Similarity: Contains 1 VWFA domain


    CACNA2D1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CA2D1_HUMAN, P54289
    Function: The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and
    activation/inactivation kinetics of the calcium channel. Plays an important role in excitation-contraction
    coupling (By similarity)

         Genatlas biochemistry entry for CACNA2D1:
    transverse tubule (TT) calcium voltage-gated channel (VDCC),L (long lasting) type,dihydropyridine (DHP)
    sensitive,alpha 2-delta regulatory subunit,(140+25kDa),skeletal muscle

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005245contributes to voltage-gated calcium channel activity IDA11160515
    GO:0005515protein binding ----
    GO:0046872metal ion binding IEA--
         
    CACNA2D1 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cacna2d1):
     behavior/neurological  cardiovascular system  muscle  nervous system  renal/urinary system 

    CACNA2D1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cacna2d1tm1Aschw for CACNA2D1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CACNA2D1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CACNA2D1 
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    SwitchGear 3'UTR luciferase reporter plasmidCACNA2D1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CACNA2D1 About   (see all 24)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Hypertrophic cardiomyopathy (HCM)
    Hypertrophic cardiomyopathy (HCM)0.75
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)0.54
    Dilated cardiomyopathy0.75
    Arrhythmogenic right ventricular cardiomyopathy0.53
    2PKC-Theta Pathway
    TCR Signaling0.68
    Fc-EpsilonRI Pathway0.49
    PKC-Theta Pathway0.68
    PDGF Pathway0.39
    ITK and TCR Signaling0.54
    3DREAM Repression and Dynorphin Expression
    DREAM Repression and Dynorphin Expression0.44
    Caspase Cascade0.36
    BMP Pathway0.44
    Calpain Protease Regulates Cellular Mechanics0.31
    nNOS Signaling in Skeletal Muscle0.37
    4Sweet Taste Signaling
    Sweet Taste Signaling0.72
    Cellular Effects of Sildenafil0.46
    Melatonin Signaling0.72
    5Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    PKA Signaling0.56
    cAMP Pathway0.77

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for CACNA2D1
        Transcription CREB pathway

    5/38 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CACNA2D1 (see all 38)
        Caspase Cascade
    Fc-GammaR Pathway
    Intracellular Calcium Signaling
    PDGF Pathway
    BMP Pathway

    1 GeneGo (Thomson Reuters) Pathway for CACNA2D1
        Transcription CREB pathway

    1 BioSystems Pathway for CACNA2D1
        Arrhythmogenic right ventricular cardiomyopathy

    1 PharmGKB Pathway for CACNA2D1
        Celecoxib Pathway, Pharmacodynamics

    5         Kegg Pathways  (Kegg details for CACNA2D1):
        MAPK signaling pathway
    Cardiac muscle contraction
    Hypertrophic cardiomyopathy (HCM)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    Dilated cardiomyopathy


    CACNA2D1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CACNA2D1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/48 Interacting proteins for CACNA2D1 (P542893 ENSP000003493204) via UniProtKB, MINT, STRING, and/or I2D (see all 48)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DLG4P783523I2D: score=1 
    YWHABP319463I2D: score=1 
    CACNA1CENSP000002663764STRING: ENSP00000266376
    CACNA1DENSP000002881394STRING: ENSP00000288139
    CACNA1FENSP000003654414STRING: ENSP00000365441
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006816calcium ion transport IDA11160515
    GO:0051924regulation of calcium ion transport IDA1309651

    CACNA2D1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CACNA2D1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for CACNA2D1 (CA2D1)

    2 HMDB Compounds for CACNA2D1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Gabapentin1-(Aminomethyl)cyclohexaneacetic acid (see all 9)60142-96-3--

    10/12 DrugBank Compounds for CACNA2D1 (see all 12)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    GabapentinGabapentin GR (see all 6)60142-96-3targetinhibitor18299583 16899342 17982508 17067834 20588320
    FelodipineDl-Felodipine (see all 4)72509-76-3targetinhibitor10525060 11752352 17475903
    Isradipine(+/-)-Isradipine (see all 5)75695-93-1targetinhibitor17139284 11752352 17016423
    Nilvadipine-- 75530-68-6targetinhibitor16484345 11752352 20933604
    IbutilideIbutilida [INN-Spanish] (see all 3)122647-32-9targetactivator15926871 9257085
    Magnesium SulfateBitter salt (see all 6)7487-88-9target--17139284 17016423
    Nifedipine-- 21829-25-4targetinhibitor16484345 11752352
    AmlodipineAmlodipine Benzenesulfonate (see all 6)88150-42-9targetinhibitor11752352
    Cyclandelate3,3,5-Trimethylcyclohexyl mandelate (see all 6)456-59-7targetinhibitor10659603
    NicardipineNicardipine HCl (see all 3)55985-32-5targetinhibitor11752352

    1 Novoseek inferred chemical compound relationship for CACNA2D1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 37 6 10534405 (2), 15526345 (1), 15467389 (1), 20003939 (1) (see all 5)

    Search CenterWatch for drugs/clinical trials and news about CACNA2D1 / CA2D1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CACNA2D1 gene: 
    NM_000722.2  

    Unigene Cluster for CACNA2D1:

    Calcium channel, voltage-dependent, alpha 2/delta subunit 1
    Hs.282151  [show with all ESTs]
    Unigene Representative Sequence: NM_000722
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000356860(uc003uhr.1) ENST00000469297 ENST00000486539 ENST00000443883
    ENST00000466806 ENST00000464354 ENST00000475237 ENST00000492734 ENST00000423588
    ENST00000461275 ENST00000484706 ENST00000356253 ENST00000535308(uc011kgy.1)


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    Additional mRNA sequence: 

    AK299838.1 BC051339.1 BC117468.1 BC117470.1 M76559.1 

    9 DOTS entries:

    DT.311566  DT.100746795  DT.95154989  DT.92421642  DT.70105027  DT.92421641  DT.102832210  DT.75167061 
    DT.95154990 

    16 AceView cDNA sequences:

    AL134437 AI223011 BX105436 AL707206 BI545104 BC051339 N85205 AW051755 
    NM_000722 BG201986 AL596587 BU501177 M76559 BF971434 AI434840 AA969854 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CACNA2D1 expression in normal human tissues (normalized intensities)      CACNA2D1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTATTCTGG
    CACNA2D1 Expression
    About this image


    CACNA2D1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Hypothalamus
             brain/forebrain/diencephalon   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Spinal Ventral Columns
     
     Breast (Uncategorized)
             MAMMARY GLAND   
     
     Skeletal Muscle (Muscoskeletal System)
             skeletal muscle ; myocytes   
     
     Eye (Sensory Organs)
             Type1 Off Cone Bipolar Cells Inner Nuclear Layer

    See CACNA2D1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CACNA2D1

    SOURCE GeneReport for Unigene cluster: Hs.282151

    UniProtKB/Swiss-Prot: CA2D1_HUMAN, P54289
    Tissue specificity: Isoform 1 is expressed in skeletal muscle. Isoform 2 is expressed in the central nervous
    system. Isoform 2, isoform 4 and isoform 5 are expressed in neuroblastoma cells. Isoform 3, isoform 4 and isoform
    5 are expressed in the aorta

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CACNA2D1 gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cacna2d11 , 5 calcium channel, voltage-dependent, alpha2/delta subunit more1, 5 90.04(n)1
    96.52(a)1
      5 (6.56 cM)5
    122931  NM_001110844.11  NP_001104314.11 
     159346915 
    chicken
    (Gallus gallus)
    Aves CACNA2D11 calcium channel, voltage-dependent, alpha 2/delta subunit more 78.12(n)
    81.06(a)
      768444  NM_001177322.1  NP_001170793.1 
    lizard
    (Anolis carolinensis)
    Reptilia CACNA2D16
    calcium channel, voltage-dependent, alpha 2/delta ...
    73(a)
    1 ↔ 1
    5(91802199-92335373)
    zebrafish
    (Danio rerio)
    Actinopterygii cacna2d1a1 calcium channel, voltage-dependent, alpha 2/delta subunit more 64.32(n)
    65.46(a)
      561434  NM_001044960.2  NP_001038425.2 
    worm
    (Caenorhabditis elegans)
    Secernentea unc-363   -- 23(a)   III(8265630-8266426)   --


    ENSEMBL Gene Tree for CACNA2D1 (if available)
    TreeFam Gene Tree for CACNA2D1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CACNA2D1 gene
    CACNA2D42  CACNA2D22  CACNA2D32  
    4 SIMAP similar genes for CACNA2D1 using alignment to 8 protein entries:     CA2D1_HUMAN (see all proteins):
    CACNA2D2    CACNA2D4    CACNA2D3    WUGSC

    CACNA2D1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/10327 SNPs in CACNA2D1 are shown (see all 10327)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs596578291,2
    C--76248869(+) CCCCCA/CCAAAA 1 -- int10--------
    rs2017816171,2
    --76248869(+) CCCCC-/ACAAAA 1 -- int10--------
    rs371391,2
    C,F--76248870(+) CCCCCC/AAAAAA 1 -- int1 trp33Minor allele frequency- A:0.38NA EA 249
    rs3748695601,2
    C--76248870(+) CCCCC-/CAAAAA 1 -- int11Minor allele frequency- C:0.00NA 2
    rs105899361,2
    C,H--76292430(+) atataA/Taatat 1 -- int10--------
    rs30869321,2
    C--76388886(+) AATAA-/AA/AG 
            
    GAGAG
    1 -- int11NA 2
    rs733899061,2
    C--76409288(+) CTCTAC/TTTTTT 1 -- int11Minor allele frequency- T:0.50WA 2
    rs343722901,2
    C--76426029(+) TAAAT-/AAGGCC 1 -- int12Minor allele frequency- A:0.25NA 4
    rs58852761,2
    C,F--76428763(+) AACCAG/-CCTCT 1 -- int12Minor allele frequency- -:0.50NA CSA 4
    rs3733829081,2
    C--76430506(+) ACAAA-/AC/CA 
            
    CACAC
    1 -- int11NA 2

    HapMap Linkage Disequilibrium report for CACNA2D1 (81575760 - 81825760 bp, first 250kb of CACNA2D1)

    Structural Variations
         Database of Genomic Variants (DGV) 10/45 variations for CACNA2D1 (see all 45):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2672825CNV Deletion23128226
    esv2734746CNV Deletion23290073
    esv1009997CNV Deletion20482838
    esv2657789CNV Deletion23128226
    esv1301171CNV Deletion17803354
    esv2734747CNV Deletion23290073
    esv2674222CNV Deletion23128226
    esv2734748CNV Deletion23290073
    esv2214231CNV Deletion18987734
    esv4702CNV Deletion18987735


    Human Gene Mutation Database (HGMD): CACNA2D1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 114204    OMIM disorders: --

    19 diseases for CACNA2D1:    About MalaCards
    short qt syndrome    timothy syndrome    malignant hyperthermia susceptibility    malignant hyperthermia
    brugada syndrome    lambert-eaton myasthenic syndrome    congenital heart block    peripheral neuropathy
    fatty liver disease    hypertrophic cardiomyopathy    brain disease    liver disease
    pertussis    dilated cardiomyopathy    neuropathy    dementia
    parkinson's disease    neuroblastoma    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for CACNA2D1:
    Timothy syndrome     Brugada syndrome

    CACNA2D1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): CACNA2D1
    Human Genome Epidemiology (HuGE) Navigator: CACNA2D1 (4 documents)

    Export disorders for CACNA2D1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CACNA2D1 gene, integrated from 9 sources (see all 60):
    (articles sorted by number of sources associating them with CACNA2D1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genome-wide association study identifies variants ass ociated with histologic features of nonalcoholic Fatty liver disease. (PubMed id 20708005)1, 4 Chalasani N....Rotter J.I. (2010)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    3. Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (2009)
    4. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (2005)
    5. Localization of the gene encoding the alpha 2/delta subunit (CACNL2A) of the human skeletal muscle voltage-dependent Ca2+ channel to chromosome 7q21-q22 by somatic cell hybrid analysis. (PubMed id 8188232)1, 3 Powers P.A....Hogan K. (1994)
    6. Human neuronal voltage-dependent calcium channels: studies on subunit structure and role in channel assembly. (PubMed id 8107964)1, 2 Brust P.F.... Ellis S.B. (1993)
    7. Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype. (PubMed id 1309651)1, 2 Williams M.E.... Harpold M.M. (1992)
    8. Genomic structure and functional expression of a human alpha(2)/delta calcium channel subunit gene (CACNA2). (PubMed id 10534405)1, 9 Schleithoff L.... Lehmann-Horn F. (1999)
    9. Multidimensional prognostic risk assessment identifies association between IL12B variation and surgery in Crohn's disease. (PubMed id 23665963)1 Dubinsky M.C....McGovern D.P. (2013)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 781 HGNC: 1399 AceView: CACNA2D1 Ensembl:ENSG00000153956 euGenes: HUgn781
    ECgene: CACNA2D1 Kegg: 781 H-InvDB: CACNA2D1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CACNA2D1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CACNA2D1 gene:
    Search GeneIP for patents involving CACNA2D1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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