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CACNA2D2 Gene

protein-coding   GIFtS: 62
GCID: GC03M050400

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

  See CACNA2D2-related disease
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 21 2     CACNA2D2
Gene 261 2     Alpha 2 Delta Calcium Channel Subunit2
Voltage-Gated Calcium Channel Subunit Alpha-2/Delta-22 3     Voltage-Dependent Calcium Channel Subunit Alpha-2/Delta-22
KIAA05583 5     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CACNA2D2 Gene:
Calcium channels mediate the entry of calcium ions into the cell upon membrane polarization. This gene encodes the
alpha-2/delta subunit of the voltage-dependent calcium channel complex. The complex consists of the main
channel-forming subunit alpha-1, and auxiliary subunits alpha-2/delta, beta, and gamma. The auxiliary subunits
function in the assembly and membrane localization of the complex, and modulate calcium currents and channel
activation/inactivation kinetics. The subunit encoded by this gene undergoes post-translational cleavage to yield
the extracellular alpha2 peptide and a membrane-anchored delta polypeptide. This subunit is a receptor for the
antiepileptic drug, gabapentin. Mutations in this gene are associated with early infantile epileptic
encephalopathy. Single nucleotide polymorphisms in this gene are correlated with increased sensitivity to opioid
drugs. Alternative splicing results in multiple transcript variants encoding different isoforms. (provided by
RefSeq, Mar 2014)

GeneCards Summary for CACNA2D2 Gene:
CACNA2D2 (calcium channel, voltage-dependent, alpha 2/delta subunit 2) is a protein-coding gene. Diseases associated with CACNA2D2 include infantile epileptic encephalopathy. GO annotations related to this gene include voltage-gated calcium channel activity. An important paralog of this gene is CACNA2D4.

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 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_000003.11  NT_022517.19  NC_018914.2  
Regulatory elements:
   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 Chromatin IP Primers for CACNA2D2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 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: 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)
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

Explore proteomics data for CACNA2D2 at MOPED

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
  • Glycosylation2 at Asn202, Asn386, Asn418, Asn507, Asn540, Asn696, Asn700, Asn786, Asn861
  • Modification sites at PhosphoSitePlus

  • See CACNA2D2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001005505.1  NP_001167522.1  NP_001278030.1  NP_006021.2  

    ENSEMBL proteins: 
     ENSP00000407393   ENSP00000404631   ENSP00000266039   ENSP00000354228   ENSP00000390329  
     ENSP00000418081   ENSP00000390526   ENSP00000378519  
    Reactome Protein details: Q9NY47

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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 Q9NY47

    ProtoNet protein and cluster: Q9NY47

    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: 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


    Find genes that share domains with CACNA2D2           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: 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

         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 CACNA2D2           About GenesLikeMe


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

         13 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Cacna2d2):
     behavior/neurological  cardiovascular system  endocrine/exocrine gland  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  mortality/aging  muscle  nervous system 
     reproductive system  respiratory system  skeleton 

    Find genes that share phenotypes with CACNA2D2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Cacna2d2tm1Svi for CACNA2D2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CACNA2D2
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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
    SwitchGear 3'UTR luciferase reporter plasmidCACNA2D2 3' UTR sequence
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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
    CA2D2_HUMAN, Q9NY47: Membrane; Single-pass type I membrane protein (Potential). Note=Colocalizes with CACNA1A in
    lipid raft fractions (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    mitochondrion2
    cytosol1
    endoplasmic reticulum1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with CACNA2D2           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 CACNA2D2 About   (see all 27)  
    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 CACNA2D2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe 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

    3 Reactome Pathways for CACNA2D2
        Regulation of insulin secretion
    Adrenaline,noradrenaline inhibits insulin secretion
    Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels

    1 PharmGKB Pathway for CACNA2D2
        Celecoxib Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for CACNA2D2) (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 CACNA2D2
    Interactions:

        Search GeneGlobe Interaction Network for CACNA2D2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for CACNA2D2 (Q9NY473 ENSP000003903294) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CACNA1CQ139363, ENSP000002663764I2D: score=1 STRING: ENSP00000266376
    THBS4P354433, ENSP000003397304I2D: score=1 STRING: ENSP00000339730
    IGHA1P018763, ENSP000003749894I2D: score=1 STRING: ENSP00000374989
    YWHABP319463I2D: score=1 
    PRKACAENSP000003095914STRING: ENSP00000309591
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006112energy reserve metabolic process TAS--
    GO:0007528neuromuscular junction development IEA--
    GO:0040014regulation of multicellular organism growth IEA--
    GO:0044281small molecule metabolic process TAS--
    GO:0046622positive regulation of organ growth IEA--

    Find genes that share ontologies with CACNA2D2           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 CACNA2D2 (CA2D2)

    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



    (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 CACNA2D2 gene (4 alternative transcripts): 
    NM_001005505.2  NM_001174051.2  NM_001291101.1  NM_006030.3  

    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 mRNA 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 

    Selected AceView cDNA sequences (see all 70):

    AF042792 BX280981 AI027237 CR615217 BF766203 AI275868 CB240597 AA906993 
    AJ251367 BM990784 AI191453 AI884536 CD621653 AA994701 AI586961 BE794711 
    AW302487 BM701762 AI026646 AF040709 AJ251368 AA534927 AK074820 NM_006030 

    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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    CACNA2D2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCACCCGGC
    CACNA2D2 Expression
    About this image


    CACNA2D2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Medulla Oblongata
             ganglion/cranial/facial VII   
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
             brain/midbrain/lateral wall   
     
     Lung (Respiratory System)
    CACNA2D2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CACNA2D2 Protein Expression

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

    Orthologs for CACNA2D2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cacna2d21 , 5 calcium channel, voltage-dependent, alpha 2/delta subunit more1, 5 91.18(n)1
    97.23(a)1
      9 (58.02 cM)5
    568081  NM_001174047.11  NP_001167518.11 
     1073996125 
    chicken
    (Gallus gallus)
    Aves CACNA2D21 calcium channel, voltage-dependent, alpha 2/delta subunit more 81.67(n)
    84.62(a)
      430150  XM_427707.4  XP_427707.4 
    lizard
    (Anolis carolinensis)
    Reptilia CACNA2D26
    calcium channel, voltage-dependent, alpha 2/delta ...
    78(a)
    1 ↔ 1
    2(150148204-150279193)
    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 si:ch211-11p18.41 si:ch211-11p18.4 67.95(n)
    66.77(a)
      568759  NM_001089420.1  NP_001082889.1 
    worm
    (Caenorhabditis elegans)
    Secernentea tag-1806
    Protein TAG-180, isoform a
    20(a)
    1 → many
    II(11323049-11329429) WBGene00007041


    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)
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    Paralogs for CACNA2D2 gene
    CACNA2D42  CACNA2D12  CACNA2D32  
    4 SIMAP similar genes for CACNA2D2 using alignment to 6 protein entries:     CA2D2_HUMAN (see all proteins):
    CACNA2D1    CACNA2D3    CACNA2D4    WUGSC

    Find genes that share paralogs with CACNA2D2           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 CACNA2D2 (see all 2506)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1929877061,2
    C--50400006(+) CTTGTC/TTTTAA 3 -- ds50010--------
    rs593362401,2
    C--50400067(+) CCTATTA/-TAACT 3 -- ds50011Minor allele frequency- -:0.50CSA 2
    rs455366341,2
    C,F--50400081(+) TGGAAG/ACAAGT 3 -- ds50012Minor allele frequency- A:0.10NA EA 240
    rs1427448371,2
    C--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--------
    rs1415302971,2
    --50400613(+) ACGCAC/TGCCCC 3 -- ut310--------

    HapMap Linkage Disequilibrium report for CACNA2D2 (50400230 - 50541675 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CACNA2D2 (see all 17):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2678946CNV Deletion23128226
    esv2725258CNV Deletion23290073
    esv989401CNV Deletion20482838
    esv998611CNV Deletion20482838
    esv271044CNV Insertion20981092
    dgv807n67CNV Loss20364138
    dgv5132n71CNV Loss21882294
    nsv460532CNV Loss19166990
    nsv876770CNV Loss21882294
    nsv470561CNV Loss18288195

    Human Gene Mutation Database (HGMD): CACNA2D2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CACNA2D2
    DNA2.0 Custom Variant and Variant Library Synthesis for CACNA2D2

    (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: 607082    OMIM disorders: --

    1 disease for CACNA2D2:    
    About MalaCards
    infantile epileptic encephalopathy


    Find genes that share disorders with CACNA2D2           About GenesLikeMe


    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)
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    PubMed articles for CACNA2D2 gene, integrated from 10 sources (see all 41):
    (articles sorted by number of sources associating them with CACNA2D2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Modulation of gating currents of the Ca(v)3.1 calcium channel by alpha 2 delta 2 and gamma 5 subunits. (PubMed id 15111129)1, 2 Lacinova L. and Klugbauer N. (Arch. Biochem. Biophys. 2004)
    2. 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. (Oncogene 2003)
    3. Neuronal distribution and functional characterization of the calcium channel alpha2delta-2 subunit. (PubMed id 10762351)1, 2 Hobom M.... Klugbauer N. (Eur. J. Neurosci. 2000)
    4. 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. (J. Biol. Chem. 2000)
    5. 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. (DNA Res. 1998)
    6. 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. (Mol. Cell. Probes 2001)
    7. Combined analysis of circulating I^-endorphin with gene polymorphisms in OPRM1, CACNAD2 and ABCB1 reveals correlation with pain, opioid sensitivity and opioid-related side effects. (PubMed id 23402298)1 Rhodin A....Nyberg F. (Mol Brain 2013)
    8. Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. (PubMed id 23339110)1 Edvardson S....Elpeleg O. (J. Med. Genet. 2013)
    9. A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy. (PubMed id 24358150)1 Pippucci T....Carelli V. (PLoS ONE 2013)
    10. Alterations of RASSF1A in premalignant cervical lesions: clinical and prognostic significance. (PubMed id 21809394)1 Mitra S....Panda C.K. (Mol. Carcinog. 2012)

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

    (According to HUGE)
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    HUGE: KIAA0558

    (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 CACNA2D2 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 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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