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CACNA2D3 Gene

protein-coding   GIFtS: 61
GCID: GC03P054156

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

  See CACNA2D3-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)
About This Section


Aliases
Calcium Channel, Voltage-Dependent, Alpha 2/Delta Subunit 31 2
Voltage-Gated Calcium Channel Subunit Alpha-2/Delta-32 3
HSA2722682
Calcium Channel Alpha2-Delta3 Subunit2
Calcium Channel, Voltage-Dependent, Alpha 2/Delta 3 Subunit2
Voltage-Dependent Calcium Channel Subunit Alpha-2/Delta-32

External Ids:    HGNC: 154601   Entrez Gene: 557992   Ensembl: ENSG000001574457   OMIM: 6063995   UniProtKB: Q8IZS83   

Export aliases for CACNA2D3 gene to outside databases

Previous GC identifers: GC03P053530 GC03P053416 GC03P054012 GC03P054114 GC03P054131


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


Entrez Gene summary for CACNA2D3 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. Various versions of each of
these subunits exist, either expressed from similar genes or the result of alternative splicing. 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 CACNA2D3 Gene:
CACNA2D3 (calcium channel, voltage-dependent, alpha 2/delta subunit 3) is a protein-coding gene. Diseases associated with CACNA2D3 include laband syndrome, and zimmermann-laband syndrome. GO annotations related to this gene include voltage-gated calcium channel activity. An important paralog of this gene is CACNA2D4.

UniProtKB/Swiss-Prot: CA2D3_HUMAN, Q8IZS8
Function: The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and
activation/inactivation kinetics of the calcium channel. Acts as a regulatory subunit for P/Q-type calcium
channel (CACNA1A), N-type (CACNA1B), L-type (CACNA1C OR CACNA1D) but not T-type (CACNA1G) (By similarity)




(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)
About This Section

RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CACNA2D3 gene promoter:
         c-Fos   STAT1   AP-1   Fra-1   FosB   STAT1beta   LUN-1   STAT1alpha   GATA-6   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CACNA2D3 promoter sequence
   Search Chromatin IP Primers for CACNA2D3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CACNA2D3


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

Entrez Gene cytogenetic band: 3p21.1   Ensembl cytogenetic band:  3p21.1   HGNC cytogenetic band: 3p21.1

CACNA2D3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CACNA2D3 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P054156:  view genomic region     (about GC identifiers)

Start:
54,156,574 bp from pter      End:
55,108,584 bp from pter
Size:
952,011 bases      Orientation:
plus strand

(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., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section


UniProtKB/Swiss-Prot: CA2D3_HUMAN, Q8IZS8 (See protein sequence)
Recommended Name: Voltage-dependent calcium channel subunit alpha-2/delta-3 precursor  
Size: 1091 amino acids; 123011 Da
Subunit: Dimer formed of alpha-2-2 and delta-2 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: In contrast to CACNA2D1 and CACNA2D2, it does not bind gabapentin, an antiepileptic drug
Secondary accessions: B2RPL6 Q9NY16 Q9NY18
Alternative splicing: 3 isoforms:  Q8IZS8-1   Q8IZS8-2   Q8IZS8-3   

Explore the universe of human proteins at neXtProt for CACNA2D3: NX_Q8IZS8

Explore proteomics data for CACNA2D3 at MOPED

Post-translational modifications: 

  • N-glycosylated (By similarity)1
  • May be proteolytically processed into subunits alpha-2-3 and delta-3 that are disulfide-linked. It is however
    unclear whether such cleavage really takes place in vivo and has a functional role (By similarity)1
  • Glycosylation2 at Asn166, Asn309, Asn553, Asn632, Asn793
  • Modification sites at PhosphoSitePlus

  • See CACNA2D3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060868.2  
    ENSEMBL proteins: 
     ENSP00000419101   ENSP00000417279   ENSP00000418228   ENSP00000417318   ENSP00000418028  
     ENSP00000417455   ENSP00000389506   ENSP00000288197  
    Reactome Protein details: Q8IZS8

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    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online peptides for CACNA2D3

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
    About This Section

    HGNC Gene Families:
    CACN: Calcium channel subunits

    3 InterPro protein domains:
     IPR004010 Cache_domain
     IPR013608 VWA_N
     IPR002035 VWF_A

    Graphical View of Domain Structure for InterPro Entry Q8IZS8

    ProtoNet protein and cluster: Q8IZS8

    3 Blocks protein domains:
    IPB002035 Von Willebrand factor type A domain signature
    IPB004010 Cache domain
    IPB013608 VWA N-terminal


    UniProtKB/Swiss-Prot: CA2D3_HUMAN, Q8IZS8
    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 CACNA2D3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway, and/or Taconic Biosciences, 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, Sets of similar genes according to GenesLikeMe)
    About This Section


    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CA2D3_HUMAN, Q8IZS8
    Function: The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and
    activation/inactivation kinetics of the calcium channel. Acts as a regulatory subunit for P/Q-type calcium
    channel (CACNA1A), N-type (CACNA1B), L-type (CACNA1C OR CACNA1D) but not T-type (CACNA1G) (By similarity)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005245voltage-gated calcium channel activity IEA--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with CACNA2D3           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CACNA2D3:
     Decreased Wnt reporter activit 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cacna2d3):
     behavior/neurological  integument  nervous system 

    Find genes that share phenotypes with CACNA2D3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Cacna2d3tm1Pngr for CACNA2D3

       genOway: Develop your customized and physiologically relevant rodent model for CACNA2D3

        Taconic Biosciences animal models for CACNA2D3:  
                        TF2880 - Cacna2d3

    miRNA
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    miRTarBase miRNAs that target CACNA2D3:
    hsa-mir-18a-3p (MIRT040818)

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    Selected qRT-PCR Assays for microRNAs that regulate CACNA2D3 (see all 19):
    hsa-miR-548j hsa-miR-548i hsa-miR-548k hsa-miR-513a-5p hsa-miR-767-5p hsa-miR-128 hsa-miR-548d-5p hsa-miR-548a-5p
    SwitchGear 3'UTR luciferase reporter plasmidCACNA2D3 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, Sets of similar genes according to GenesLikeMe)
    About This Section


    Subcellular locations from UniProtKB/Swiss-Prot
    CA2D3_HUMAN, Q8IZS8: Membrane; Single-pass type I membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular2
    plasma membrane2
    cytosol1
    golgi apparatus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with CACNA2D3           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 GenesLikeMe, 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, Sets of similar genes according to GenesLikeMe)
    About This Section






    SuperPaths for CACNA2D3 About   (see all 24)  
    See pathways by source

          Powered
    by
         
    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)
    TCR Signaling0.68
    Fc-EpsilonRI Pathway0.49
    PKC-Theta Pathway0.68
    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 CACNA2D3           About GenesLikeMe

    Pathways by source                                   See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CACNA2D3 (see all 37)
        Caspase Cascade
    Fc-GammaR Pathway
    Intracellular Calcium Signaling
    PDGF Pathway
    BMP Pathway

    1 GeneGo (Thomson Reuters) Pathway for CACNA2D3
        Transcription CREB pathway

    1 BioSystems Pathway for CACNA2D3
        Arrhythmogenic right ventricular cardiomyopathy

    1 Reactome Pathway for CACNA2D3
        Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels

    1 PharmGKB Pathway for CACNA2D3
        Celecoxib Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for CACNA2D3) (see all 7):
        MAPK signaling pathway
    Cardiac muscle contraction
    Adrenergic signaling in cardiomyocytes
    Oxytocin signaling pathway
    Hypertrophic cardiomyopathy (HCM)

        Pathway & Disease-focused RT2 Profiler PCR Array including CACNA2D3: 
              WNT Signaling Targets in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for CACNA2D3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for CACNA2D3 (Q8IZS83 ENSP000002881974) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RAD51CO435023, ENSP000003367014I2D: score=1 STRING: ENSP00000336701
    YWHABP319463I2D: score=1 
    PRKACAENSP000003095914STRING: ENSP00000309591
    PRKACBENSP000003597194STRING: ENSP00000359719
    PRKACGENSP000003664884STRING: ENSP00000366488
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006816calcium ion transport ----

    Find genes that share ontologies with CACNA2D3           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, Sets of similar genes according to GenesLikeMe)
    About This Section

    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CACNA2D3 (CA2D3)

    1 HMDB Compound for CACNA2D3    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    2 DrugBank Compounds for CACNA2D3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    AmlodipineAmlodipine Benzenesulfonate (see all 6)88150-42-9targetinhibitor10525060 19634509 9249249 20097194 11426839 10374627
    Nilvadipine-- 75530-68-6targetinhibitor10525060 19634509 9249249 20097194 11426839 10374627



    (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 )
    About This Section


    REFSEQ mRNAs for CACNA2D3 gene (3 alternative transcripts): 
    NM_018398.2  XM_005265318.1  XM_005265319.1  

    Unigene Cluster for CACNA2D3:

    Calcium channel, voltage-dependent, alpha 2/delta subunit 3
    Hs.656687  [show with all ESTs]
    Unigene Representative Sequence: NM_018398
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000474759(uc003dhf.3) ENST00000490478(uc011beu.1 uc003dhg.1)
    ENST00000471363(uc003dhh.1) ENST00000477024 ENST00000492460 ENST00000468658(uc010hmv.1)
    ENST00000478466 ENST00000478261 ENST00000471865 ENST00000415676 ENST00000288197

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    Additional mRNA sequence: 

    AF516696.1 AJ272213.1 AJ272268.1 AK299718.1 AK307449.1 BC052562.1 BC065373.1 BC137502.1 
    BC137505.1 

    12 DOTS entries:

    DT.309628  DT.97838107  DT.86856799  DT.100755169  DT.100755168  DT.99966540  DT.101981730  DT.75106134 
    DT.86838932  DT.65284623  DT.75145564  DT.75198350 

    Selected AceView cDNA sequences (see all 38):

    CK130239 CD513443 CK130243 CK130240 CD107126 CK130242 AA724785 AA815447 
    R20288 BC052562 AI990635 AI696214 BC065373 BQ711741 CK130241 AI223142 
    AL041638 BQ708505 BX113817 AW138616 AI125329 AW205555 AW341727 BE740459 

    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 GenesLikeMe, 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)
    About This Section

    CACNA2D3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTTAGAACA
    CACNA2D3 Expression
    About this image


    CACNA2D3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Neurons
             Mature Horizontal Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             Mature Horizontal Cells Inner Nuclear Layer
     
     Placenta (Extraembryonic Tissues)    fully expand to see all 2 entries
             Placenta-derived mesenchymal stem cells (family)
     
     Mesenchymal Stem Cells (Uncategorized)    fully expand to see all 2 entries
             Placenta-derived mesenchymal stem cells (family)
     
     Blood (Hematopoietic System)
             Monocytes Peripheral Blood
    CACNA2D3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CACNA2D3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.656687

    UniProtKB/Swiss-Prot: CA2D3_HUMAN, Q8IZS8
    Tissue specificity: Only detected in brain. Not present in lung, testis, aorta, spleen, jejunum, ventricular
    muscle and kidney (at protein level). According to PubMed:11687876, it is brain-specific, while according to
    PubMed:11245980, it is widely expressed

        Pathway & Disease-focused RT2 Profiler PCR Array including CACNA2D3: 
              WNT Signaling Targets in human mouse rat

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    In Situ
    Assay Products:
     

     
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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 CACNA2D3 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cacna2d31 , 5 calcium channel, voltage-dependent, alpha2/delta subunit more1, 5 90.01(n)1
    98.08(a)1
      14 (16.80 cM)5
    122941  NM_009785.11  NP_033915.11 
     289049475 
    chicken
    (Gallus gallus)
    Aves CACNA2D31 calcium channel, voltage-dependent, alpha 2/delta subunit more 83.1(n)
    94.26(a)
      415996  XM_414338.4  XP_414338.2 
    lizard
    (Anolis carolinensis)
    Reptilia CACNA2D36
    calcium channel, voltage-dependent, alpha 2/delta ...
    89(a)
    1 ↔ 1
    2(160778402-161480061)
    African clawed frog
    (Xenopus laevis)
    Amphibia cacna2d3-A2 calcium channel, voltage-dependent, alpha 2/delta 3 more 80.07(n)    BC041202.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.197482 Transcribed sequence with weak similarity to protein more 78.97(n)    AL923426.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta BG:DS07108.23
    stj1
    voltage-gated calcium channel3
    straightjacket1
    35(a)
    (best of 3)3
    47.84(n)1
    37.86(a)1
      35D33
    365261  NM_001259374.11  NP_001246303.11 
    worm
    (Caenorhabditis elegans)
    Secernentea unc-363   -- 26(a)   III(8265630-8266426)   --


    ENSEMBL Gene Tree for CACNA2D3 (if available)
    TreeFam Gene Tree for CACNA2D3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
    About This Section

    Paralogs for CACNA2D3 gene
    CACNA2D42  CACNA2D22  CACNA2D12  
    3 SIMAP similar genes for CACNA2D3 using alignment to 4 protein entries:     CA2D3_HUMAN (see all proteins):
    CACNA2D4    CACNA2D1    CACNA2D2

    Find genes that share paralogs with CACNA2D3           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)
    About This Section


    Selected SNPs for CACNA2D3 (see all 20944)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1928455241,2
    Cuntested177554999(+) AGCTTC/TGTCTA 2 F syn10--------
    rs801515841,2
    C,F--54154712(+) GGTCAA/GCTCCT 1 -- us2k12Minor allele frequency- G:0.03NA EA 240
    rs1834922361,2
    --54154803(+) CACAGA/GAGCGG 1 -- us2k10--------
    rs622509921,2
    C--54154837(+) CATCCG/ATAGAG 1 -- us2k14Minor allele frequency- A:0.15NA WA EA 360
    rs1115496891,2
    C,F--54154937(+) CTGCCA/GGAGCC 1 -- us2k12Minor allele frequency- G:0.07NA EA 122
    rs1425938141,2
    --54155000(+) TAGCAA/GTCCTT 1 -- us2k10--------
    rs1505902541,2
    --54155016(+) TCGCTA/GCCAAC 1 -- us2k10--------
    rs791423181,2
    C,F--54155077(+) GGAAAG/AGAGAG 1 -- us2k12Minor allele frequency- A:0.04CSA WA 119
    rs753912451,2
    C,F--54155308(+) CCGGGC/AAAGGA 1 -- us2k11Minor allele frequency- A:0.17EA 120
    rs1875592811,2
    --54155344(+) TTTACA/CGCCAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CACNA2D3 (54156574 - 54406574 bp, first 250kb of CACNA2D3)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CACNA2D3 (see all 37):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2678712CNV Deletion23128226
    esv2725288CNV Deletion23290073
    esv2725290CNV Deletion23290073
    esv2725287CNV Deletion23290073
    esv2662512CNV Deletion23128226
    esv2662923CNV Deletion23128226
    esv2457570CNV Deletion19546169
    esv2606802CNV Deletion19546169
    esv2663971CNV Deletion23128226
    esv2322950CNV Deletion18987734

    Human Gene Mutation Database (HGMD): CACNA2D3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CACNA2D3
    DNA2.0 Custom Variant and Variant Library Synthesis for CACNA2D3

    (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, Sets of similar genes according to GenesLikeMe)
    About This Section

    OMIM gene information: 606399    OMIM disorders: --

    3 diseases for CACNA2D3:    
    About MalaCards
    laband syndrome    zimmermann-laband syndrome    hereditary night blindness

    1 inferred disease relationship from the University of Copenhagen DISEASES database for CACNA2D3:
    Hereditary night blindness

    Find genes that share disorders with CACNA2D3           About GenesLikeMe

    Genetic Association Database (GAD): CACNA2D3
    Human Genome Epidemiology (HuGE) Navigator: CACNA2D3 (5 documents)

    Export disorders for CACNA2D3 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 CACNA2D3 gene, integrated from 10 sources (see all 30):
    (articles sorted by number of sources associating them with CACNA2D3)

    1. Cloning a calcium channel alpha2delta-3 subunit gene from a putative tumor suppressor gene region at chromosome 3p21.1 in conventional renal cell carcinoma. (PubMed id 11245980)1, 2, 3 Hanke S.... Kovacs G. (Gene 2001)
    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. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PubMed id 18519826)1, 4 Uhl G.R....Lerman C. (Arch. Gen. Psychiatry 2008)
    5. Molecular cloning and characterization of the human voltage-gated calcium channel alpha(2)delta-4 subunit. (PubMed id 12181424)1, 2 Qin N.... D'Andrea M.R. (Mol. Pharmacol. 2002)
    6. Characterization of CACNA2D3 as a putative tumor suppressor gene in the development and progression of nasopharyngeal carcinoma. (PubMed id 23649311)1 Wong A.M....Guan X.Y. (Int. J. Cancer 2013)
    7. Genetics of coronary artery calcification among African Americans, a meta-analysis. (PubMed id 23870195)1 Wojczynski M.K....Reilly M.P. (BMC Med. Genet. 2013)
    8. Investigation of tumor suppressing function of CACNA2D3 in esophageal squamous cell carcinoma. (PubMed id 23560067)1 Li Y....Guan X.Y. (PLoS ONE 2013)
    9. Identification of a novel quantitative trait nucleotype related to iron status in a calcium channel gene. (PubMed id 23324578)1 Baeza-Richer C....Vaquero M.P. (Dis. Markers 2013)
    10. Genome-wide association study of antibody response to smallpox vaccine. (PubMed id 22542470)1 Ovsyannikova I.G....Poland G.A. (Vaccine 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 55799 HGNC: 15460 AceView: CACNA2D3 Ensembl:ENSG00000157445 euGenes: HUgn55799
    ECgene: CACNA2D3 Kegg: 55799 H-InvDB: CACNA2D3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CACNA2D3 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 CACNA2D3 gene:
    Search GeneIP for patents involving CACNA2D3

    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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