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

CACNA2D4 Gene

protein-coding   GIFtS: 55
GCID: GC12M001901

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

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

Aliases
Calcium Channel, Voltage-Dependent, Alpha 2/Delta Subunit 41 2
Voltage-Gated Calcium Channel Subunit Alpha-2/Delta-42 3
RCD42 5
Voltage-Dependent Calcium Channel Subunit Alpha-2/Delta-42
Voltage-Gated Calcium Channel Alpha(2)Delta-4 Subunit2

External Ids:    HGNC: 202021   Entrez Gene: 935892   Ensembl: ENSG000001510627   OMIM: 6081715   UniProtKB: Q7Z3S73   

Export aliases for CACNA2D4 gene to outside databases

Previous GC identifers: GC12M001787 GC12M001773 GC12M001771


(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 CACNA2D4 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 CACNA2D4 Gene: 
CACNA2D4 (calcium channel, voltage-dependent, alpha 2/delta subunit 4) is a protein-coding gene. Diseases associated with CACNA2D4 include retinal cone dystrophy 4, and cone dystrophy 4, and among its related super-pathways are Hypertrophic cardiomyopathy (HCM) and PKC-Theta Pathway. GO annotations related to this gene include voltage-gated ion channel activity and calcium channel activity. An important paralog of this gene is CACNA2D2.

UniProtKB/Swiss-Prot: CA2D4_HUMAN, Q7Z3S7
Function: The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and
activation/inactivation kinetics of the calcium channel




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_009759.16  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CACNA2D4 gene promoter:
         HFH-3   Nkx2-5   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   NRSF form 2   Tal-1beta   POU3F2   E47   FOXI1   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCACNA2D4 promoter sequence
   Search SABiosciences Chromatin IP Primers for CACNA2D4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CACNA2D4


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

Entrez Gene cytogenetic band: 12p13.33   Ensembl cytogenetic band:  12p13.33   HGNC cytogenetic band: 12p13.33

CACNA2D4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CACNA2D4 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M001901:  view genomic region     (about GC identifiers)

Start:
1,901,123 bp from pter      End:
2,028,002 bp from pter
Size:
126,880 bases      Orientation:
minus strand

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

UniProtKB/Swiss-Prot: CA2D4_HUMAN, Q7Z3S7 (See protein sequence)
Recommended Name: Voltage-dependent calcium channel subunit alpha-2/delta-4 precursor  
Size: 1137 amino acids; 127938 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 (Probable). Interacts with CACNA1C and CACNB3
Subcellular location: Membrane; Single-pass type I membrane protein (Potential)
Miscellaneous: In contrast to CACNA2D1 and CACNA2D2, it does not bind gabapentin, an antiepileptic drug
Sequence caution: Sequence=AAH48288.1; Type=Erroneous translation; Note=Wrong choice of frame;
Sequence=AAN06672.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q7Z3S8 Q86XZ5 Q8IZS9
Alternative splicing: 6 isoforms:  Q7Z3S7-1   Q7Z3S7-2   Q7Z3S7-4   Q7Z3S7-5   Q7Z3S7-6   Q7Z3S7-7   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for CACNA2D4: NX_Q7Z3S7

Explore proteomics data for CACNA2D4 at MOPED 

Post-translational modifications:

  • UniProtKB: May be proteolytically processed into subunits alpha-2-4 and delta-4 that are disulfide-linked. It is however
    unclear whether such cleavage really takes place in vivo and has a functional role (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q7Z3S7

  • CACNA2D4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CACNA2D4 Protein Expression
    REFSEQ proteins: NP_758952.4  
    ENSEMBL proteins: 
     ENSP00000372169   ENSP00000440231   ENSP00000403371   ENSP00000442329   ENSP00000446341  
     ENSP00000465372   ENSP00000467333   ENSP00000468530   ENSP00000443038   ENSP00000468167  
     ENSP00000465060   ENSP00000467697   ENSP00000464949   ENSP00000468080  

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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--

    CACNA2D4 for ontologies           About GeneDecksing



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

    3 InterPro protein domains:
     IPR004010 Cache_domain
     IPR013608 VWA_N
     IPR002035 VWF_A

    Graphical View of Domain Structure for InterPro Entry Q7Z3S7

    ProtoNet protein and cluster: Q7Z3S7

    UniProtKB/Swiss-Prot: CA2D4_HUMAN, Q7Z3S7
    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


    CACNA2D4 for domains           About GeneDecksing


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CA2D4_HUMAN, Q7Z3S7
    Function: The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and
    activation/inactivation kinetics of the calcium channel

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005244voltage-gated ion channel activity IEA--
    GO:0005262calcium channel activity IEA--
    GO:0046872metal ion binding IEA--
         
    CACNA2D4 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Cacna2d4):
     vision/eye 

    CACNA2D4 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CACNA2D4 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CACNA2D4 About   (see all 21)                                                                                              See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/37 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CACNA2D4 (see all 37)
        Caspase Cascade
    Fc-GammaR Pathway
    Intracellular Calcium Signaling
    PDGF Pathway
    BMP Pathway

    1 GeneGo (Thomson Reuters) Pathway for CACNA2D4
        Transcription CREB pathway

    1 BioSystems Pathway for CACNA2D4
        Arrhythmogenic right ventricular cardiomyopathy


    1 PharmGKB Pathway for CACNA2D4
        Celecoxib Pathway, Pharmacodynamics

    5         Kegg Pathways  (Kegg details for CACNA2D4):
        MAPK signaling pathway
    Cardiac muscle contraction
    Hypertrophic cardiomyopathy (HCM)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    Dilated cardiomyopathy


    CACNA2D4 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CACNA2D4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/10 Interacting proteins for CACNA2D4 (ENSP000003721694) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKACAENSP000003095914STRING: ENSP00000309591
    PRKACBENSP000003597194STRING: ENSP00000359719
    PRKACGENSP000003664884STRING: ENSP00000366488
    PRKXENSP000002628484STRING: ENSP00000262848
    RASGRF1ENSP000004059634STRING: ENSP00000405963
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for CACNA2D4 (CA2D4)

    1 HMDB Compound for CACNA2D4    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Search CenterWatch for drugs/clinical trials and news about CACNA2D4 / CA2D4

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

    REFSEQ mRNAs for CACNA2D4 gene (3 alternative transcripts): 
    NM_172364.4  NM_001005737.1  NM_001005766.1  

    Unigene Cluster for CACNA2D4:

    Calcium channel, voltage-dependent, alpha 2/delta subunit 4
    Hs.13768  [show with all ESTs]
    Unigene Representative Sequence: BX537437
    18/26 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 26):
    ENST00000382722(uc009zdr.2 uc009zds.2 uc009zdt.1) ENST00000537784
    ENST00000280663(uc021qsx.1) ENST00000444595 ENST00000545595(uc021qsy.1)
    ENST00000538450(uc021qsz.1) ENST00000587995 ENST00000585385 ENST00000541444
    ENST00000588077 ENST00000538027 ENST00000536846 ENST00000543405 ENST00000586184
    ENST00000588896 ENST00000585708 ENST00000536818 ENST00000537923

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    Additional mRNA sequence: 

    AF516695.1 AK124829.1 AK301234.1 AL137658.1 BC048288.1 BC150186.1 BX537437.1 

    15 DOTS entries:

    DT.100781705  DT.97836728  DT.100694941  DT.410395  DT.97780056  DT.95165962  DT.101962872  DT.121178100 
    DT.100648863  DT.75172379  DT.95084883  DT.100781704  DT.121178074  DT.91988929  DT.121178088 

    24/90 AceView cDNA sequences (see all 90):

    BX954353 BX117768 CD743170 BX954421 BM687889 BU155034 CA394664 BI518624 
    AA719773 BM661578 CA443847 BQ636196 BQ919363 CR603629 AI457823 AI991425 
    BQ229491 BQ011171 AL558158 BF434199 AI160471 BM009121 BQ028418 BI908463 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for CACNA2D4 (see all 8)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 27a · 27b · 27c ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33a · 33b · 33c ^ 34a · 34b · 34c ^ 35a · 35b · 35c · 35d ^ 36 ^ 37a · 37b · 37c ^ 38a · 38b
    SP1:  -     -                                   -                                         -     -                                   -               
    SP2:                                -           -           -     -                                                                                 
    SP3:                    -                       -                                                                                                   
    SP4:                    -           -           -                                                                                                   
    SP5:                                                                                                                                -               


    ECgene alternative splicing isoforms for CACNA2D4

    (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

    CACNA2D4 expression in normal human tissues (normalized intensities)      CACNA2D4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTAACTGCGA
    CACNA2D4 Expression
    About this image


    CACNA2D4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             bone marrow   
     
     Blood (Muscoskeletal System)    fully expand to see all 2 entries
             bone marrow   
     
     Eye (Sensory Organs)
             Type1 Off Cone Bipolar Cells Inner Nuclear Layer

    See CACNA2D4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CACNA2D4

    SOURCE GeneReport for Unigene cluster: Hs.13768

    UniProtKB/Swiss-Prot: CA2D4_HUMAN, Q7Z3S7
    Tissue specificity: Predominantly expressed in certain types of endocrine cells. Present in the Paneth cells of
    the small intestine. Also present in the erythroblasts in the fetal liver, in the cells of the zona reticularis
    of the adrenal gland and in the basophils of the pituitary. Present at low level in some brain regions such as
    the cerebellum (at protein level)

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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 CACNA2D4 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cacna2d41 , 5 calcium channel, voltage-dependent, alpha 2/delta subunit more1, 5 82.7(n)1
    84.09(a)1
      6 (56.62 cM)5
    3197341  NM_001033382.21  NP_001028554.21 
     1192365265 
    chicken
    (Gallus gallus)
    Aves CACNA2D41 calcium channel, voltage-dependent, alpha 2/delta subunit more 76.75(n)
    79.61(a)
      100858946  XM_003640417.1  XP_003640465.1 
    lizard
    (Anolis carolinensis)
    Reptilia CACNA2D46
    --
    Uncharacterized protein
    84(a)
    66(a)
    many → 1
    many → 1
    5(12878043-13040564)
    5(12823388-12852929)
    zebrafish
    (Danio rerio)
    Actinopterygii cacna2d4a1 calcium channel, voltage-dependent, alpha 2/delta subunit more 64.18(n)
    64.62(a)
      568225  XM_691543.4  XP_696635.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG428171 CG42817 47.69(n)
    37.4(a)
      34951  NM_165149.2  NP_723955.2 
    worm
    (Caenorhabditis elegans)
    Secernentea unc-366
    tag-1806
    Protein TAG-180, isoform a
    19(a)
    19(a)
    many → 1
    possible ortholog
    III(8193846-8201208)
    II(11323049-11329429)


    ENSEMBL Gene Tree for CACNA2D4 (if available)
    TreeFam Gene Tree for CACNA2D4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CACNA2D4 gene
    CACNA2D22  CACNA2D12  CACNA2D32  
    3 SIMAP similar genes for CACNA2D4 using alignment to 8 protein entries:     CA2D4_HUMAN (see all proteins):
    CACNA2D3    CACNA2D1    CACNA2D2

    CACNA2D4 for paralogs           About GeneDecksing



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

    10/3211 SNPs in CACNA2D4 are shown (see all 3211)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs714548441,2
    Cpathogenic19081148(+) TGGCGG/TTACCA 2 * Y stg11Minor allele frequency- T:0.50NA 2
    rs762246311,2
    C,Funtested19069769(+) TGTGAT/CGCAGT 2 /I /V mis11Minor allele frequency- C:0.06WA 118
    rs339723651,2
    C,Funtested19084841(+) GTCACC/TGCCAC 2 A syn18Minor allele frequency- T:0.11NA WA EA EU 1000
    rs1452905441,2
    --1755344(+) GCCATA/GCAGAG 1 -- ds50010--------
    rs1157433371,2
    C,F--1755379(+) AAAACC/TAGGCC 1 -- ds50011Minor allele frequency- T:0.03WA 118
    rs107445521,2
    C,F,A,H--1755448(+) GTGCTC/GTACCT 1 -- ds500124Minor allele frequency- G:0.34NS EA NA WA 2766
    rs1472270741,2
    --1755469(+) GGATGA/GTAACC 1 -- ds50010--------
    rs1844302621,2
    --1755605(+) GTGGGC/TGGCCA 1 -- ds50010--------
    rs1171164271,2
    C,F--1755665(+) GTGCCG/ACACAG 1 -- ds50011Minor allele frequency- A:0.02NA 120
    rs73161011,2
    C,F--1755670(+) GCACAG/CGTGGT 1 -- ds50015Minor allele frequency- C:0.09NA WA 244

    HapMap Linkage Disequilibrium report for CACNA2D4 (1901123 - 2028002 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/30 variations for CACNA2D4 (see all 30):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2745402CNV Deletion23290073
    esv994355CNV Deletion20482838
    esv1036258CNV Deletion17803354
    esv3953CNV Deletion18987735
    esv2741800CNV Deletion23290073
    esv2745399CNV Deletion23290073
    esv2745401CNV Deletion23290073
    esv2745400CNV Deletion23290073
    esv2745403CNV Deletion23290073
    esv2669081CNV Deletion23128226


    Human Gene Mutation Database (HGMD): CACNA2D4
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608171   
    OMIM disorders: 610478  
    UniProtKB/Swiss-Prot: CA2D4_HUMAN, Q7Z3S7
  • Retinal cone dystrophy 4 (RCD4) [MIM:610478]: Characterized by minimal symptoms except for slowly
    progressive reduction in visual acuity. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 9 diseases for CACNA2D4:    About MalaCards
    retinal cone dystrophy 4    cone dystrophy 4    human immunodeficiency virus infectious disease    night blindness
    blindness    hypertrophic cardiomyopathy    retinitis    dilated cardiomyopathy
    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for CACNA2D4:
    Human immunodeficiency virus infectious disease     Night blindness

    CACNA2D4 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Genetic Association Database (GAD): CACNA2D4
    Human Genome Epidemiology (HuGE) Navigator: CACNA2D4 (2 documents)

    Export disorders for CACNA2D4 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 CACNA2D4 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with CACNA2D4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of the human voltage-gated calcium channel alpha(2)delta-4 subunit. (PubMed id 12181424)1, 2, 3 Qin N.... D'Andrea M.R. (2002)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    3. Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. (PubMed id 17033974)1, 2 Wycisk K.A.... Berger W. (2006)
    4. Identification of a CACNA2D4 deletion in late onset bi polar disorder patients and implications for the involvement of voltage-dependen t calcium channels in psychiatric disorders. (PubMed id 22488967)1 Van Den Bossche M.J....Del-Favero J. (2012)
    5. Genotyping microarray for CSNB-associated genes. (PubMed id 19578023)4 Zeitz C....Berger W. (2009)
    6. Genome-wide association study of electrocardiographic and heart rate variability traits: the Framingham Heart Study. (PubMed id 17903306)4 Newton-Cheh C....Larson M.G. (2007)
    7. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (2007)
    8. Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. (PubMed id 17903301)4 Vasan R.S....Benjamin E.J. (2007)
    9. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    10. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (2006)

    (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: 93589 HGNC: 20202 AceView: CACNA2D4 Ensembl:ENSG00000151062 euGenes: HUgn93589
    ECgene: CACNA2D4 Kegg: 93589 H-InvDB: CACNA2D4

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CACNA2D4 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 CACNA2D4 gene:
    Search GeneIP for patents involving CACNA2D4

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



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