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CACNA2D1 Gene

protein-coding   GIFtS: 65
GCID: GC07M081575

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

(Previous name: long intergenic non-protein coding RNA 1112)
(Previous symbols: CACNL2A, CACNA2, MHS3, LINC01112)
  See CACNA2D1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Calcium Channel, Voltage-Dependent, Alpha 2/Delta Subunit 11 2     Voltage-Gated Calcium Channel Subunit Alpha-2/Delta-12 3
CACNL2A1 2 3 5     CCHL2A2 3
CACNA21 2 5     Calcium Channel, L Type, Alpha 2 Polypeptide2
LINC011121 2     Dihydropyridine-Sensitive L-Type, Calcium Channel Alpha-2/Delta Subunit2
Long Intergenic Non-Protein Coding RNA 11121 2     lncRNA-N32
MHS31 3     Voltage-Dependent Calcium Channel Subunit Alpha-2/Delta-12

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 2, and short qt syndrome. GO annotations related to this gene include voltage-gated calcium channel activity. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NT_007933.16  NC_018918.2  
Regulatory elements:
   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 Chromatin IP Primers for CACNA2D1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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)
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: 

  • Proteolytically processed into subunits alpha-2-1 and delta-1 that are disulfide-linked (By similarity)1
  • Glycosylation2 at Asn92, Asn136, Asn184, Asn324, Asn348, Asn468, Asn475, Asn604, Asn613, Asn675,
                                 Asn781, Asn824, Asn888, Asn895, Asn985, Asn998
  • Modification sites at PhosphoSitePlus

  • See CACNA2D1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with CACNA2D1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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--
         
    Find genes that share ontologies with CACNA2D1           About GenesLikeMe


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

    Find genes that share phenotypes with CACNA2D1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Cacna2d1tm1Aschw for CACNA2D1

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    7 qRT-PCR Assays for microRNAs that regulate CACNA2D1:
    hsa-miR-4310 hsa-miR-377 hsa-miR-1322 hsa-miR-1179 hsa-miR-1207-5p hsa-miR-107 hsa-miR-103a
    SwitchGear 3'UTR luciferase reporter plasmidCACNA2D1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CA2D1_HUMAN, P54289: Membrane; Single-pass type I membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum2
    cytoskeleton1
    cytosol1
    extracellular1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005891voltage-gated calcium channel complex IDA11160515
    GO:0016529sarcoplasmic reticulum IEA--
    GO:0030315T-tubule IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with CACNA2D1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for CACNA2D1 About   (see all 25)  
    See pathways by source

    SuperPathContained pathways About
    1DREAM 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
    Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels0.00
    2Hypertrophic cardiomyopathy (HCM)
    Hypertrophic cardiomyopathy (HCM)0.75
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)0.54
    Dilated cardiomyopathy0.75
    Arrhythmogenic right ventricular cardiomyopathy0.54
    3TCR Signaling (Qiagen)
    PKC-Theta Pathway0.68
    Fc-EpsilonRI Pathway0.49
    TCR Signaling0.68
    PDGF Pathway0.39
    ITK and TCR Signaling0.54
    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


    Find genes that share SuperPaths with CACNA2D1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe 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

    Selected Kegg Pathways  (Kegg details for CACNA2D1) (see all 7):
        MAPK signaling pathway
    Cardiac muscle contraction
    Adrenergic signaling in cardiomyocytes
    Oxytocin signaling pathway
    Hypertrophic cardiomyopathy (HCM)

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CACNA2D1
    Interactions:

        Search GeneGlobe Interaction Network for CACNA2D1

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

    Selected Interacting proteins for CACNA2D1 (P542893 ENSP000003493204) via UniProtKB, MINT, STRING, and/or I2D (see all 50)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DLG4P783523I2D: score=1 
    YWHABP319463I2D: score=1 
    CACNA1IENSP000003850194STRING: ENSP00000385019
    CACNB3ENSP000003010504STRING: ENSP00000301050
    CACNG3ENSP000000052844STRING: ENSP00000005284
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

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

    Find genes that share ontologies with CACNA2D1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
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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--

    Selected 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)



    Find genes that share compounds with CACNA2D1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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:

    N85205 AL134437 BI545104 AI223011 AL707206 BX105436 BC051339 AW051755 
    BU501177 M76559 AL596587 NM_000722 BG201986 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CACNA2D1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 5) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Spinal Ventral Columns
     
     Lung (Respiratory System)
             Basal Cells Trachea
     
     Neurons
             Type1 Off Cone Bipolar Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)
             Type1 Off Cone Bipolar Cells Inner Nuclear Layer
     
     Brain (Nervous System)
             Hypothalamus
    CACNA2D1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CACNA2D1 Protein Expression

    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for CACNA2D1 gene from Selected species (see all 14)    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)
    80.93(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)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cacna2d11 calcium channel, voltage-dependent, alpha 2/delta subunit more 74.2(n)
    78.43(a)
      100036724  NM_001097269.1  NP_001090738.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cacna2d1a1 calcium channel, voltage-dependent, alpha 2/delta subunit more 64.41(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)
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    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

    Find genes that share paralogs with CACNA2D1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CACNA2D1 (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) Selected 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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CACNA2D1
    DNA2.0 Custom Variant and Variant Library Synthesis for CACNA2D1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 114204    OMIM disorders: --

    3 diseases for CACNA2D1:    
    About MalaCards
    short qt syndrome 2    short qt syndrome    timothy syndrome

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

    Find genes that share disorders with CACNA2D1           About GenesLikeMe

    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)
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    PubMed articles for CACNA2D1 gene, integrated from 10 sources (see all 64):
    (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 associated with histologic features of nonalcoholic Fatty liver disease. (PubMed id 20708005)1, 4 Chalasani N....Rotter J.I. (Gastroenterology 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. (Mol. Med. 2010)
    3. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (Gut 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. (J. Proteome Res. 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. (Genomics 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. (Neuropharmacology 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. (Neuron 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. (Genomics 1999)
    9. Isolation and characterization of the 5A'-upstream region of the human voltage-gated Ca(2+) channel I+ 2I'-1 auxiliary subunit gene: promoter analysis and regulation by transcription factor Sp1. (PubMed id 23242029)1 MartA-nez-HernA!ndez E....Felix R. (Pflugers Arch. 2013)
    10. 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. (Inflamm. Bowel Dis. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (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)
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    Entrez Gene: 781 HGNC: 1399 AceView: CACNA2D1 Ensembl:ENSG00000153956 euGenes: HUgn781
    ECgene: CACNA2D1 Kegg: 781 H-InvDB: CACNA2D1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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