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

CACNA2D2 Gene

protein-coding   GIFtS: 61
GCID: GC03M050400

calcium channel, voltage-dependent, alpha 2/delta subunit...

 Explore 5 diseases affiliated with
CACNA2D2 via our new
 Human Malady Compendium 
Biological research products
for CACNA2D2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Calcium Channel, Voltage-Dependent, Alpha 2/Delta Subunit 21 2     LUAC11.12
KIAA05581 3 5     Alpha 2 Delta Calcium Channel Subunit2
Voltage-Gated Calcium Channel Subunit Alpha-2/Delta-22 3     Gene 262
CACNA2D2     Voltage-Dependent Calcium Channel Subunit Alpha-2/Delta-22

External Ids:    HGNC: 14001   Entrez Gene: 92542   Ensembl: ENSG000000074027   OMIM: 6070825   UniProtKB: Q9NY473   

Export aliases for CACNA2D2 gene to outside databases

Previous GC identifers: GC03P049446 GC03P049615 GC03M050254 GC03M050359 GC03M050375


(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 CACNA2D2:
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, encoding different isoforms, have been characterized.
(provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CA2D2_HUMAN, Q9NY47
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) and possibly T-type (CACNA1G). Overexpression induces
apoptosis

Gene Wiki entry for CACNA2D2


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_022517.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CACNA2D2 gene promoter:
         E2F-3a   E2F-4   RFX1   USF1   E2F-5   E2F-2   LCR-F1   E2F   E2F-1   USF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCACNA2D2 promoter sequence
   Search SABiosciences Chromatin IP Primers for CACNA2D2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CACNA2D2


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

Entrez Gene cytogenetic band: 3p21.3   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p21.3

CACNA2D2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CACNA2D2 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M050400:  view genomic region     (about GC identifiers)

Start:
50,400,230 bp from pter      End:
50,541,675 bp from pter
Size:
141,446 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CA2D2_HUMAN, Q9NY47 (See protein sequence)
Recommended Name: Voltage-dependent calcium channel subunit alpha-2/delta-2 precursor  
Size: 1150 amino acids; 129817 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)
Subcellular location: Membrane; Single-pass type I membrane protein (Potential). Note=Colocalizes with CACNA1A in lipid
raft fractions (By similarity)
Miscellaneous: Binds gabapentin, an antiepileptic drug
Secondary accessions: A7MD15 Q9NY48 Q9UEW0 Q9Y268
Alternative splicing: 5 isoforms:  Q9NY47-1   Q9NY47-2   Q9NY47-3   Q9NY47-4   Q9NY47-5   

Explore the universe of human proteins at neXtProt for CACNA2D2: NX_Q9NY47

Post-translational modifications:

  • May be proteolytically processed into subunits alpha-2-2 and delta-2 that are disulfide-linked. It is however unclear
  • whether such cleavage really takes place in vivo and has a functional role (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NY47

  • CACNA2D2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001005505.1  NP_001167522.1  NP_006021.2  

    ENSEMBL proteins: 
     ENSP00000407393   ENSP00000404631   ENSP00000266039   ENSP00000354228   ENSP00000390329  
     ENSP00000418081   ENSP00000390526   ENSP00000378519  
    Reactome Protein details: Q9NY47
    Human Recombinant Protein Products: 
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    Browse Proteins at Uscn

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005891voltage-gated calcium channel complex IEA--


    CACNA2D2 for ontologies           About GeneDecksing



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

    CACNA2D2 for domains           About GeneDecksing

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

    Graphical View of Domain Structure for InterPro Entry Q9NY47

    ProtoNet protein and cluster: Q9NY47

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


    UniProtKB/Swiss-Prot: CA2D2_HUMAN, Q9NY47
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: CA2D2_HUMAN, Q9NY47
    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) and possibly T-type (CACNA1G). Overexpression induces
    apoptosis

         Genatlas biochemistry entry for CACNA2D2:
    voltage-dependent calcium channel (VDCC),alpha 2-delta regulatory subunit,expressed in brain,localized in a critical
    region for lung cancer

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    hsa-miR-124* hsa-miR-3607-3p hsa-miR-632 hsa-miR-637 hsa-miR-3622b-3p hsa-miR-3613-3p hsa-miR-489 hsa-miR-1231
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005245voltage-gated calcium channel activity IEA--
    GO:0005515protein binding ----
    GO:0046872metal ion binding IEA--


    CACNA2D2 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for CACNA2D2:
     Synthetic lethal with Ras  Synthetic lethal with imatinib 

    Animal Models:
         Mouse knock-out Cacna2d2tm1Svi for CACNA2D2
         13 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Cacna2d2):
     behavior/neurological  cardiovascular system  endocrine/exocrine gland  growth/size  hematopoietic system 
     homeostasis/metabolism  immune system  mortality/aging  muscle  nervous system 
     reproductive system  respiratory system  skeleton 

    CACNA2D2 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/28 super-pathways (see all 28About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1DREAM Repression and Dynorphin Expression
    DREAM Repression and Dynorphin Expression1.00
    Caspase Cascade0.24
    BMP Pathway0.44
    Calpain Protease Regulates Cellular Mechanics0.22
    nNOS Signaling in Skeletal Muscle0.37
    2PKC-Theta Pathway
    PKC-Theta Pathway1.00
    Fc-EpsilonRI Pathway0.42
    TCR Signaling0.68
    PDGF Pathway0.35
    ITK and TCR Signaling0.54
    3Sweet Taste Signaling
    Sweet Taste Signaling1.00
    Cellular Effects of Sildenafil0.46
    Melatonin Signaling0.72
    4Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA1.00
    PKA Signaling0.56
    cAMP Pathway0.77
    5NFAT and Cardiac Hypertrophy
    NFAT and Cardiac Hypertrophy1.00
    IGF1R Signaling0.37
    Signaling Involved in Cardiac Hypertrophy0.42

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for CACNA2D2
        Transcription CREB pathway

    5/37 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CACNA2D2 (see all 37)
        Caspase Cascade
    Fc-GammaR Pathway
    Intracellular Calcium Signaling
    PDGF Pathway
    BMP Pathway

    1 GeneGo (Thomson Reuters) Pathway for CACNA2D2
        Transcription CREB pathway

    1 BioSystems Pathway for CACNA2D2 
        Arrhythmogenic right ventricular cardiomyopathy

    5/8        Reactome Pathways for CACNA2D2 (see all 8)
        Transmission across Chemical Synapses
    Closing (Inhibition) of L-type Calcium Channels in Pancreatic Beta Cells
    Metabolism
    Regulation of Insulin Secretion
    Inhibition of Insulin Secretion by Adrenaline/Noradrenaline

    1 PharmGKB Pathway for CACNA2D2
        Celecoxib Pathway, Pharmacodynamics

    5         Kegg Pathways  (Kegg details for CACNA2D2):
        MAPK signaling pathway
    Cardiac muscle contraction
    Hypertrophic cardiomyopathy (HCM)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    Dilated cardiomyopathy


    CACNA2D2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CACNA2D2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/15 Interacting proteins for CACNA2D2 (Q9NY473 ENSP000003903294) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IGHA1P018763, ENSP000003749894I2D: score=1 STRING: ENSP00000374989
    CACNA1CQ139363I2D: score=1 
    THBS4P354433I2D: score=1 
    YWHABP319463I2D: score=1 
    PRKACAENSP000003095914STRING: ENSP00000309591
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006112energy reserve metabolic process TAS--
    GO:0006816calcium ion transport ----
    GO:0007528neuromuscular junction development IEA--
    GO:0040014regulation of multicellular organism growth IEA--
    GO:0044281small molecule metabolic process TAS--


    CACNA2D2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for CACNA2D2

    2 HMDB Compounds for CACNA2D2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Gabapentin1-(Aminomethyl)cyclohexaneacetic acid (see all 9)60142-96-3--

    6 DrugBank Compounds for CACNA2D2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    GabapentinGabapentin GR (see all 6)60142-96-3targetinhibitor18299583 16899342 17982508 20588320
    AmiodaroneAmiodarona [INN-Spanish] (see all 5)1951-25-3targetinhibitor20221978 1281221
    Bepridil-- 64706-54-3targetinhibitor1281221 7565636
    FelodipineDl-Felodipine (see all 4)72509-76-3targetinhibitor18974361 1281221
    Isradipine(+/-)-Isradipine (see all 5)75695-93-1targetinhibitor18974361 1281221
    NitrendipineNitrendipin (see all 3)39562-70-4targetinhibitor18974361

    Search CenterWatch for drugs/clinical trials and news about CACNA2D2 / CA2D2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CACNA2D2 gene (3 alternative transcripts): 
    NM_001005505.1  NM_001174051.1  NM_006030.2  

    Unigene Cluster for CACNA2D2:

    Calcium channel, voltage-dependent, alpha 2/delta subunit 2
    Hs.476273  [show with all ESTs]
    Unigene Representative Sequence: AF040709
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000423994 ENST00000429770 ENST00000266039(uc003dap.3) ENST00000360963
    ENST00000483620 ENST00000424201 ENST00000479441 ENST00000487413 ENST00000435965(uc003daq.3)
    ENST00000395083

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    Additional cDNA sequence: 

    AB011130.1 AF040709.1 AF042792.1 AF042793.1 AJ251367.1 AJ251368.1 AK074820.1 AK310138.1 
    BC152438.1 

    10 DOTS entries:

    DT.91676580  DT.443954  DT.97804445  DT.100748944  DT.102834667  DT.91676589  DT.100733553  DT.120873146 
    DT.308038  DT.95078373 

    24/70 AceView cDNA sequences (see all 70):

    AI027237 CR615217 AF042792 BX280981 AA906993 AJ251367 AI191453 AA994701 
    AI884536 CD621653 BM990784 AI586961 CB240597 AA916808 NM_006030 AK074820 
    AA534927 AB011130 AJ251368 BM701762 AF040709 AI026646 BE794711 AW302487 

    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

    CACNA2D2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGCACCCGGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    CACNA2D2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    7 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Spinal CordSpinal Dorsal ColumnsDorsal Spinal Cord Progenitor CellsSpinal Cord
    Spinal CordSpinal Ventral ColumnsVentral Spinal Cord Progenitor CellsMotor Neurons
    BrainHypothalamusBrain
    BrainMedulla OblongataBrain
    Neural TubeMetencephalonNeural Tube
    Spinal CordSpinal Dorsal ColumnsSpinal Cord
    Spinal CordSpinal Ventral ColumnsSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CACNA2D2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CACNA2D2

    SOURCE GeneReport for Unigene cluster: Hs.476273

    UniProtKB/Swiss-Prot: CA2D2_HUMAN, Q9NY47
    Tissue specificity: Predominantly present in cerebellar cortex. Present in various lung tumor cell lines, while it is
    absent in normal lung (at protein level). Highly expressed in heart, lung, testis, pancreas and skeletal muscle. Also
    expressed in kidney, liver, placenta and brain

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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 CACNA2D2 gene from 5/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves CACNA2D21 calcium channel, voltage-dependent, alpha 2/delta subunit more 80.74(n)
    83.33(a)
      430150  XM_427707.3  XP_427707.3 
    lizard
    (Anolis carolinensis)
    Reptilia CACNA2D26
    --
    77(a)
    1 ↔ 1
    2(150148204-150209977)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.121262 Transcribed sequence with moderate similarity to protein more 78.51(n)    BX704606.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5687591 novel protein similar to vertebrate calcium channel more 67.41(n)
    66.02(a)
      568759  NM_001089420.1  NP_001082889.1 
    worm
    (Caenorhabditis elegans)
    Secernentea tag-1806
    Temporarily Assigned Gene name family member (tag-...
    16(a)
    possible ortholog
    II(11322985-11329365)


    ENSEMBL Gene Tree for CACNA2D2 (if available)
    TreeFam Gene Tree for CACNA2D2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CACNA2D2 gene
    CACNA2D42  CACNA2D12  CACNA2D32  CACHD12  
    4 SIMAP similar genes for CACNA2D2 using alignment to 6 protein entries:     CA2D2_HUMAN (see all proteins):
    CACNA2D1    CACNA2D3    CACNA2D4    WUGSC

    CACNA2D2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1977 NCBI SNPs in CACNA2D2 are shown (see all 1977    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1929877061,2
    --50400006(+) CTTGTC/TTTTAA 3 -- ds50010--------
    rs593362401,2
    C--50400067(+) TATTA-/TAACTGG 3 -- ds50010--------
    rs1126366341,2
    C,--50400067(+) CCTATTA/-TAACT 3 -- ds50011Minor allele frequency- -:0.50CSA 2
    rs455366341,2
    F,--50400081(+) TGGAAG/ACAAGT 3 -- ds50012Minor allele frequency- A:0.10NA EA 240
    rs1427448371,2
    --50400132(+) CTTCAC/TCCCCT 3 -- ds50010--------
    rs1847949421,2
    --50400135(+) CACCCC/GCTGCA 3 -- ds50010--------
    rs1896654311,2
    --50400143(+) GCAGAC/GCACTA 3 -- ds50010--------
    rs1445114491,2
    --50400343(+) TTTTTC/TGTCGC 3 -- ut310--------
    rs115396361,2
    C--50400394(+) AAAAAG/AGGCAG 3 -- ut31 trp31Minor allele frequency- A:0.00NA 2
    rs1483443181,2
    --50400508(+) TGATGA/GGGATT 3 -- ut310--------

    HapMap Linkage Disequilibrium report for CACNA2D2 (50400230 - 50541675 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for CACNA2D2
         3 CNVs: 68373 30176 4336

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    (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.)
    About This Section

    CACNA2D2 for disorders           About GeneDecksing

    OMIM gene information: 607082    OMIM disorders: --

    5 diseases for CACNA2D2:    About MalaCards
    cerebellar ataxia    ataxia    seizures    lung cancer
    neuronitis


    Export disorders for CACNA2D2 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 CACNA2D2 gene, integrated from 9 sources (see all 32):
    (articles sorted by number of sources associating them with CACNA2D2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CACNA2D2-mediated apoptosis in NSCLC cells is associated with alterations of the intracellular calcium signaling and disruption of mitochondria membrane integrity. (PubMed id 12555074)1, 2 Carboni G.L....Ji L. (2003)
    2. Neuronal distribution and functional characterization of the calcium channel alpha2delta-2 subunit. (PubMed id 10762351)1, 2 Hobom M.... Klugbauer N. (2000)
    3. Functional properties of a new voltage-dependent calcium channel alpha(2)delta auxiliary subunit gene (CACNA2D2). (PubMed id 10766861)1, 2 Gao B....Minna J.D. (2000)
    4. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9628581)1, 2 Nagase T....Ohara O. (1998)
    5. Identification of a single nucleotide polymorphism in the human alpha 2 delta 2 calcium channel subunit gene. (PubMed id 11851383)1, 9 Honorio S....Latif F. (2001)
    6. Alterations of RASSF1A in premalignant cervical lesion s: clinical and prognostic significance. (PubMed id 21809394)1 Mitra S....Panda C.K. (2012)
    7. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    8. [Clinical pharmacology and electrophysiological prope rties of dronedarone]. (PubMed id 20221978)7 Lewalter T....Hohnloser S. (2010)
    9. Gabapentin suppresses cortical spreading depression s usceptibility. (PubMed id 20588320)7 Hoffmann U....Ayata C. (2010)
    10. Molecular pharmacology of human Cav3.2 T-type Ca2+ ch annels: block by antihypertensives, antiarrhythmics, and their analogs. (PubMed id 18974361)7 Perez-Reyes E....Vitko I. (2009)

    (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: 9254 HGNC: 1400 AceView: CACNA2D2 Ensembl:ENSG00000007402 euGenes: HUgn9254
    ECgene: CACNA2D2 Kegg: 9254 H-InvDB: CACNA2D2

    (According to HUGE)
    About This Section
    HUGE: KIAA0558

    (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 CACNA2D2 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 CACNA2D2 gene:
    Search GeneIP for patents involving CACNA2D2

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



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