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

HAGHL Gene

protein-coding   GIFtS: 48
GCID: GC16P000807

hydroxyacylglutathione hydrolase-like

(Previous name: hydroxyacyl glutathione hydrolase-like )
 Explore 2 diseases affiliated with
HAGHL via our new
 Human Malady Compendium 
Biological research products
for HAGHL
    

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

Aliases
Hydroxyacylglutathione Hydrolase-Like1 2
MGC26051
Hydroxyacyl Glutathione Hydrolase-Like1
GLO2-Like/ RJD122
Hydroxyacylglutathione Hydrolase-Like Protein2
EC 3.1.2.-3

External Ids:    HGNC: 141771   Entrez Gene: 842642   Ensembl: ENSG000001032537   UniProtKB: Q6PII53   

Export aliases for HAGHL gene to outside databases

Previous GC identifers: GC16U990171 GC16P000716 GC16P000717 GC16P000777 GC16P000701 GC16P000780 GC16P000781 GC16P000782 GC16P000789


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

UniProtKB/Swiss-Prot: HAGHL_HUMAN, Q6PII5
Function: Hydrolase acting on ester bonds (Potential)




(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_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HAGHL gene promoter:
         USF1   AML1a   Zic1   USF-1   XBP-1   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHAGHL promoter sequence
   Search SABiosciences Chromatin IP Primers for HAGHL

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


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

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

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

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P000807:  view genomic region     (about GC identifiers)

Start:
776,936 bp from pter      End:
785,525 bp from pter
Size:
8,590 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: HAGHL_HUMAN, Q6PII5 (See protein sequence)
Recommended Name: Hydroxyacylglutathione hydrolase-like protein  
Size: 290 amino acids; 31557 Da
Cofactor: Binds 2 zinc ions per subunit (By similarity)
Sequence caution: Sequence=AAK61250.1; Type=Erroneous gene model prediction; Sequence=BAD92568.1; Type=Erroneous
initiation; Note=Translation N-terminally shortened; Sequence=BAD92568.1; Type=Miscellaneous discrepancy;
Note=Sequence of unknown origin at the C-terminus;
Secondary accessions: A6NCC4 D3DU64 Q59FX8 Q96BZ3 Q96NR5 Q96S11 Q9BT45
Alternative splicing: 4 isoforms:  Q6PII5-1   Q6PII5-2   Q6PII5-3   Q6PII5-4   

Explore the universe of human proteins at neXtProt for HAGHL: NX_Q6PII5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6PII5

  • HAGHL Protein expression data from MOPED and PaxDb:    About this image 
    HAGHL Protein Expression
    REFSEQ proteins: NP_115680.1  
    ENSEMBL proteins: 
     ENSP00000447170   ENSP00000341952   ENSP00000459148   ENSP00000457219   ENSP00000456978  
     ENSP00000456390   ENSP00000454712   ENSP00000374353   ENSP00000460451   ENSP00000455616  
     ENSP00000456104   ENSP00000457486   ENSP00000458711  

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    Uscn Proteins for HAGHL


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

    HAGHL for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR001279 Beta-lactamas-like
     IPR017782 Hydroxyacylglutathione_Hdrlase

    Graphical View of Domain Structure for InterPro Entry Q6PII5

    ProtoNet protein and cluster: Q6PII5

    UniProtKB/Swiss-Prot: HAGHL_HUMAN, Q6PII5
    Similarity: Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family


    (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: HAGHL_HUMAN, Q6PII5
    Function: Hydrolase acting on ester bonds (Potential)

         Enzyme Number (IUBMB): EC 3.1.2.-1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004416hydroxyacylglutathione hydrolase activity IEA--
    GO:0008270zinc ion binding IEA--
    GO:0016787hydrolase activity ----
         
    HAGHL for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for HAGHL 

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    In Situ Assay
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    (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  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Pyruvate metabolism
    Pyruvate metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    1         Kegg Pathway  (Kegg details for HAGHL):
        Pyruvate metabolism


    HAGHL for pathways           About GeneDecksing

    Interactions:

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

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for HAGHL (ENSP000003419524) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GLO1ENSP000003624634STRING: ENSP00000362463
    LDHDENSP000003000514STRING: ENSP00000300051
    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:0006750glutathione biosynthetic process IEA--

    HAGHL 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 HAGHL

    4 HMDB Compounds for HAGHL    About this table
    CompoundSynonyms CAS #PubMed Ids
    D-Lactic acid(-)-Lactate (see all 35)10326-41-7--
    Glutathione5-L-Glutamyl-L-cysteinylglycine (see all 32)70-18-8--
    S-Lactoylglutathione(R)-S-lactoylglutathione (see all 13)25138-66-3--
    WaterDihydrogen oxide (see all 2)7732-18-5--
    Search CenterWatch for drugs/clinical trials and news about HAGHL 

    (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 HAGHL gene (2 alternative transcripts): 
    NM_207112.1  NM_032304.2  

    Unigene Cluster for HAGHL:

    Hydroxyacylglutathione hydrolase-like
    Hs.124015  [show with all ESTs]
    Unigene Representative Sequence: AK098340
    18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000549114 ENST00000341413(uc002cjl.1) ENST00000562187 ENST00000564537(uc002cjn.1)
    ENST00000562141 ENST00000561546 ENST00000564545 ENST00000389703(uc002cjo.1)
    ENST00000561750 ENST00000567414 ENST00000569143 ENST00000567696(uc010uup.1)
    ENST00000568141 ENST00000389701 ENST00000563792 ENST00000561561 ENST00000563156
    ENST00000569385

    miRNA
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    Inhib. RNA
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    Additional cDNA sequence: 

    AB209331.1 AK054841.1 AK098340.1 AK293575.1 BC004353.1 BC015008.1 BC033796.1 BC036747.1 

    16 DOTS entries:

    DT.99987369  DT.205126  DT.99974411  DT.120675895  DT.100026222  DT.95273770  DT.95273768  DT.95273771 
    DT.97772481  DT.100646063  DT.100670842  DT.120675941  DT.120675967  DT.97844130  DT.40131883  DT.95371160 

    24/94 AceView cDNA sequences (see all 94):

    CN478667 BX090134 BM716896 BM745715 BU557856 AW136334 AK054841 BC004353 
    NM_032304 CR592523 BI333301 BC015008 BG821643 NM_207112 AW006136 BQ054515 
    AI660354 BF343335 AK098340 BF685341 BG395061 BM272617 BU738482 BU957166 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for HAGHL (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b · 9c ·
    SP1:                                                  -     -                       -                                               -                           
    SP2:              -     -     -     -     -           -     -                       -                                                                           
    SP3:                                                  -     -                                                                       -                           
    SP4:                    -     -     -     -           -     -                                                                                                   
    SP5:                                                                                                                          -     -                           

    ExUns: 9d
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for HAGHL

    (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

    HAGHL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGGGCCACCT
    HAGHL Expression
    About this image
    See HAGHL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HAGHL

    SOURCE GeneReport for Unigene cluster: Hs.124015
        SABiosciences Custom PCR Arrays for HAGHL

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    In Situ
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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 last universal common ancestor (LUCA).

    Orthologs for HAGHL gene from 6/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves HAGHL1 hydroxyacylglutathione hydrolase-like 71.52(n)
    67.27(a)
      416536  NM_001030637.1  NP_001025808.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG43656
    --
    30(a)
    1 ↔ 1
    3L(20791745-20793181)
    worm
    (Caenorhabditis elegans)
    Secernentea Y17G7B.36
    Protein Y17G7B.3
    36(a)
    1 → many
    II(11988960-11991855)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons GLX2-26
    GLX2-46
    (see all 4)
    Hydroxyacylglutathione hydrolase cytoplasmic
    putative hydroxyacylglutathione hydrolase 2, chlor...
    (see all 4)
    39(a)
    24(a)
    (see all 4)
    1 ↔ many
    possible ortholog
    (see all 4)
    3(3397549-3399574)
    1(1857767-1860730)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    metallo-beta-lactamase family protein, putative, e...
    metallo-beta-lactamase family protein, putative, e...
    41(a)
    25(a)
    1 ↔ many
    possible ortholog
    3(12262167-12265201)
    9(20121858-20126936)
    E. coli
    (Escherichia coli)
    Gamma proteobacteria gloB6
    hydroxyacylglutathione hydrolase
    30(a)
    1 → many
    Chromosome(234027-234782)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HAGHL gene
    PNKD2  ETHE12  HAGH2  
    2 SIMAP similar genes for HAGHL using alignment to 10 protein entries:     HAGHL_HUMAN (see all proteins):
    HAGH    PNKD

    HAGHL 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

    10/75 NCBI SNPs in HAGHL are shown (see all 75    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2013447421,2
    --775336(+) GTGAGC/TCCCAG 2 -- us2k1 int10--------
    rs1999882561,2
    --775394(+) GGCTCG/TCCATA 2 -- us2k1 int10--------
    rs617509311,2
    C,F--775605(+) AGCAGG/ATGCAC 2 -- us2k1 int15Minor allele frequency- A:0.02NS CSA WA EU 1443
    rs746689191,2
    C,F--775654(+) GGTGCA/GCGCTC 2 -- int1 us2k11Minor allele frequency- G:0.03WA 118
    rs740028681,2
    C--775655(+) GTGCAC/TGCTCA 2 -- us2k1 int11Minor allele frequency- T:0.50WA 2
    rs781036931,2
    C,F--775783(+) TCACAC/TGGCTG 2 -- us2k1 int11Minor allele frequency- T:0.03EA 120
    rs1994978621,2
    --775784(+) CACACA/GGCTGC 2 -- us2k1 int10--------
    rs1996153561,2
    --775907(+) GTGGCA/GTCTGT 2 -- us2k1 int10--------
    rs1175958671,2
    C,F--775940(+) CCTCAC/AGAGCA 2 -- int1 us2k11Minor allele frequency- A:0.03NA 120
    rs124460581,2
    C,F,A,H--775947(+) AGCACG/CCTGGG 2 -- int1 us2k17Minor allele frequency- C:0.21NA WA 248

    HapMap Linkage Disequilibrium report for HAGHL (776936 - 785525 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 9 variations for HAGHL
         9 CNVs: 49738 49727 29986 49728 3987 29982 5329 30732 29983

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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

    HAGHL for disorders           About GeneDecksing

    2 diseases for HAGHL:    About MalaCards
    hepatitis b    hepatitis

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

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

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    3. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PubMed id 11157797)1, 2 Daniels R.J....Higgs D.R. (2001)
    4. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    5. New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (2010)
    6. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    7. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)2 Martin J.... Pennacchio L.A. (2004)
    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)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 84264 HGNC: 14177 AceView: HAGHL Ensembl:ENSG00000103253 euGenes: HUgn84264
    ECgene: HAGHL Kegg: 84264 H-InvDB: HAGHL

    (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 HAGHL 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 HAGHL gene:
    Search GeneIP for patents involving HAGHL

    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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