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

CACHD1 Gene

protein-coding   GIFtS: 49
GCID: GC01P064936

cache domain containing 1

(Previous name: von Willebrand factor type A and cache domain containing...)
(Previous symbol: VWCD1)
  Search for CACHD1
in our new
 Human Malady Compendium 
Biological research products
for CACHD1
    

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

Aliases
Cache Domain Containing 11 2     Cache Domain-Containing Protein 12 3
Von Willebrand Factor Type A And Cache Domain Containing 11 2     RP4-655E10.12
KIAA15731 3     VWFA And Cache Domain-Containing Protein 12
VWCD11 3     

External Ids:    HGNC: 293141   Entrez Gene: 576852   Ensembl: ENSG000001589667   UniProtKB: Q5VU973   

Export aliases for CACHD1 gene to outside databases

Previous GC identifers: GC01P064685 GC01P063045


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

UniProtKB/Swiss-Prot: CAHD1_HUMAN, Q5VU97
Function: May regulate voltage-dependent calcium channels (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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CACHD1 gene promoter:
         NF-1   Pax-2   Pax-2a   Nkx2-5   C/EBPalpha   GATA-2   MZF-1   S8   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCACHD1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CACHD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CACHD1


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

Entrez Gene cytogenetic band: 1p31.3   Ensembl cytogenetic band:  1p31.3   HGNC cytogenetic band: 1p31.3

CACHD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CACHD1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P064936:  view genomic region     (about GC identifiers)

Start:
64,936,428 bp from pter      End:
65,158,741 bp from pter
Size:
222,314 bases      Orientation:
plus 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: CAHD1_HUMAN, Q5VU97 (See protein sequence)
Recommended Name: VWFA and cache domain-containing protein 1 precursor  
Size: 1274 amino acids; 142290 Da
Subcellular location: Membrane; Single-pass type I membrane protein (Potential)
Sequence caution: Sequence=BAB14105.1; Type=Erroneous initiation; Sequence=BAB14860.1; Type=Erroneous initiation;
Sequence=CAH70309.1; Type=Erroneous initiation; Sequence=CAI22137.1; Type=Erroneous initiation;
Secondary accessions: Q49AE9 Q658T4 Q7Z3P2 Q9H7W4 Q9H9W3 Q9HCJ9
Alternative splicing: 2 isoforms:  Q5VU97-1   Q5VU97-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CACHD1: NX_Q5VU97

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5VU97

  • CACHD1 Protein expression data from MOPED and PaxDb:    About this image 
    CACHD1 Protein Expression
    REFSEQ proteins: NP_065976.2  
    ENSEMBL proteins: 
     ENSP00000290039   ENSP00000360113  

    Human Recombinant Protein Products for CACHD1: 
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    Uscn Proteins for CACHD1

    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--

    CACHD1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for CACHD1


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

    CACHD1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR004010 Cache_domain
     IPR013608 VWA_N
     IPR002035 VWF_A

    Graphical View of Domain Structure for InterPro Entry Q5VU97

    ProtoNet protein and cluster: Q5VU97

    1 Blocks protein family: IPB004010 Cache domain

    UniProtKB/Swiss-Prot: CAHD1_HUMAN, Q5VU97
    Similarity: Belongs to the calcium channel subunit alpha-2/delta family
    Similarity: Contains 2 cache domains
    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, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CAHD1_HUMAN, Q5VU97
    Function: May regulate voltage-dependent calcium channels (By similarity)

    Animal Models:

       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CACHD1 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidCACHD1 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CACHD1


    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CACHD1

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

    5/52 Interacting proteins for CACHD1 (Q5VU972, 3 ENSP000002900394) via UniProtKB, MINT, STRING, and/or I2D (see all 52)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RANBP10Q6VN203, ENSP000003165894I2D: score=3 STRING: ENSP00000316589
    XAB2Q9HCS73, ENSP000003511374I2D: score=3 STRING: ENSP00000351137
    ZMIZ1Q9ULJ63, ENSP000003344744I2D: score=2 STRING: ENSP00000334474
    GLTSCR1LQ6AI393, ENSP000003139334I2D: score=3 STRING: ENSP00000313933
    PEBP1P300863, ENSP000002613134I2D: score=1 STRING: ENSP00000261313
    About this table

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

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

    CACHD1 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CACHD1

    1 HMDB Compound for CACHD1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Search CenterWatch for drugs/clinical trials and news about CACHD1 / CAHD1 

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    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 CACHD1 gene: 
    NM_020925.2  

    Unigene Cluster for CACHD1:

    Cache domain containing 1
    Hs.443891  [show with all ESTs]
    Unigene Representative Sequence: BX537603
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000290039(uc001dbo.1) ENST00000495994(uc001dbp.1) ENST00000470527(uc001dbq.1 uc010opa.1)
    ENST00000486580 ENST00000371073

    miRNA
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    8/30 QIAGEN miScript miRNA Assays for microRNAs that regulate CACHD1 (see all 30):
    hsa-miR-30c hsa-miR-579 hsa-miR-429 hsa-miR-411 hsa-miR-30d hsa-miR-500a hsa-miR-144 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidCACHD1 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: CACHD1
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    Clone
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    Additional cDNA sequence: 

    AB046793.1 AK022571.1 AK024256.1 AK026777.1 AK126515.1 AK131297.1 AK299361.1 AL833000.1 
    BC039301.1 BX537603.1 

    7 DOTS entries:

    DT.95264455  DT.111061  DT.100816081  DT.102826802  DT.97807869  DT.121391215  DT.121391247 

    24/110 AceView cDNA sequences (see all 110):

    N79114 AK022571 AW292961 AU132649 AK126515 AI290002 AB046793 AA385638 
    AU131750 AU130699 AU132933 AL833000 BX101292 CB130379 AK024256 AI312901 
    BF724338 BU160602 BC039301 BG035210 AU124132 BU940193 AA598639 H48360 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for CACHD1    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^
    SP1:                                                                                                                    -                                       
    SP2:                                            -                                                                       -                                       
    SP3:                                            -           -                                                                                                   
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28
    SP1:                                                
    SP2:                                                
    SP3:                                                
    SP4:                                                
    SP5:                                                


    ECgene alternative splicing isoforms for CACHD1

    (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

    CACHD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTAAAGAATG
    CACHD1 Expression
    About this image

    CACHD1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    5 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    AdiposeVisceral White AdiposeAdipose
    BrainCerebral CortexBrain
    Neural TubeMesencephalic Ventricular ZoneNeural Tube
    Neural TubeMetencephalonNeural Tube
    Neural TubeTelencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CACHD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CACHD1

    SOURCE GeneReport for Unigene cluster: Hs.443891
        SABiosciences Custom PCR Arrays for CACHD1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CACHD1

    (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 CACHD1 gene from 5/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves CACHD11 cache domain containing 1 82.64(n)
    95.91(a)
      424693  XM_422524.3  XP_422524.3 
    lizard
    (Anolis carolinensis)
    Reptilia CACHD16
    --
    95(a)
    1 ↔ 1
    4(98572308-98669815)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.109352 Xenopus laevis transcribed sequences 79.61(n)    CB206631.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.153382 Transcribed sequences 81.7(n)    AL925090.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG168681 CG16868 46.56(n)
    34.42(a)
      37298  NM_137625.1  NP_611469.1 


    ENSEMBL Gene Tree for CACHD1 (if available)
    TreeFam Gene Tree for CACHD1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CACHD1 gene
    CACNA2D42  CACNA2D22  CACNA2D12  CACNA2D32  

    CACHD1 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

    10/3575 NCBI SNPs in CACHD1 are shown (see all 3575    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs66568771,2
    C--64934635(+) catggC/Tgaaac 1 -- us2k10--------
    rs1928653401,2
    --64934792(+) GCTGTA/GAAATG 1 -- us2k10--------
    rs1456924101,2
    --64934797(+) AAATG-/AAAAAG 1 -- us2k10--------
    rs1850232541,2
    --64934869(+) TTAACA/CTTCCA 1 -- us2k10--------
    rs726733031,2
    C--64934918(+) CACACA/GGGGCT 1 -- us2k10--------
    rs1150149111,2
    F--64935034(+) GGAAGG/ATTAAC 1 -- us2k11Minor allele frequency- A:0.04WA 118
    rs1460409431,2
    --64935114(+) TTTCTC/TGCTTT 1 -- us2k10--------
    rs1162055511,2
    F--64935192(+) CCTTGG/CAGTAA 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs1894346721,2
    --64935202(+) AGACTG/TGTGCT 1 -- us2k10--------
    rs1486882541,2
    --64935310(+) GATACA/GTACCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CACHD1 (64936428 - 65158741 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for CACHD1
         1 Indel: 44602
    Human Gene Mutation Database (HGMD): CACHD1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CACHD1
    DNA2.0 Custom Variant and Variant Library Synthesis for CACHD1

    (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

    CACHD1 for disorders           About MalaCards

    CACHD1 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: CACHD1 (1 document)

    Export disorders for CACHD1 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 CACHD1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with CACHD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10997877)1, 2, 3 Nagase T.... Ohara O. (2000)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Proteomic identification of common SCF ubiquitin ligas e FBXO6-interacting glycoproteins in three kinds of cells. (PubMed id 22268729)1 Liu B....Wang L.S. (2012)
    4. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    6. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    7. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    9. Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs. (PubMed id 12421765)1 Nakayama M....Ohara O. (2002)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57685 HGNC: 29314 AceView: KIAA1573 Ensembl:ENSG00000158966 euGenes: HUgn57685
    ECgene: CACHD1 H-InvDB: CACHD1

    (According to HUGE)
    About This Section
    HUGE: KIAA1573

    (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 CACHD1 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 CACHD1 gene:
    Search GeneIP for patents involving CACHD1

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



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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013 , 14 May 2013

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