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

WDR62 Gene

protein-coding   GIFtS: 50
GCID: GC19P036545

WD repeat domain 62

(Previous names: chromosome 19 open reading frame 14, microcephaly, primary...)
(Previous symbols: C19orf14, MCPH2)
 Explore 11 diseases affiliated with
WDR62 via our new
 Human Malady Compendium 
Biological research products
for WDR62
    

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

Aliases
WD Repeat Domain 621 2     FLJ332981
C19orf141 2 3 5     Chromosome 19 Open Reading Frame 141
MCPH21 2     WD Repeat-Containing Protein 622
Microcephaly, Primary Autosomal Recessive 21 2     EC 2.7.11.18
DKFZP434J0461     EC 2.7.7.388

External Ids:    HGNC: 245021   Entrez Gene: 2844032   Ensembl: ENSG000000757027   OMIM: 6135835   UniProtKB: O433793   

Export aliases for WDR62 gene to outside databases

Previous GC identifers: GC19P041240 GC19P033051


(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 WDR62:
This gene is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with
microencephaly, cortical malformations, and mental retardation. Alternative splicing results in multiple transcript
variants. (provided by RefSeq, Jan 2011)

UniProtKB/Swiss-Prot: WDR62_HUMAN, O43379
Function: Required for cerebral cortical development. Plays a role in neuronal proliferation and migration

Gene Wiki entry for WDR62


(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_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the WDR62 gene promoter:
         Pax-5   Sp1   LCR-F1   CBF-C   E47   CBF-B   CBF-A   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidWDR62 promoter sequence
   Search SABiosciences Chromatin IP Primers for WDR62

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat WDR62


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

Entrez Gene cytogenetic band: 19q13.12   Ensembl cytogenetic band:  19q13.12   HGNC cytogenetic band: 19q13.12

WDR62 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WDR62 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P036545:  view genomic region     (about GC identifiers)

Start:
36,545,783 bp from pter      End:
36,596,012 bp from pter
Size:
50,230 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: WDR62_HUMAN, O43379 (See protein sequence)
Recommended Name: WD repeat-containing protein 62  
Size: 1518 amino acids; 165954 Da
Subcellular location: Nucleus. Cytoplasm, cytoskeleton, spindle pole. Note=Shows cell cycle-dependent localization.
Accumulates to the spindle pole during mitosis
Sequence caution: Sequence=AAC27979.1; Type=Erroneous gene model prediction; Sequence=AAH17261.1; Type=Erroneous
initiation; Note=Translation N-terminally extended;
Secondary accessions: Q63HP9 Q659D7 Q8NBF7 Q96AD9
Alternative splicing: 4 isoforms:  O43379-1   O43379-2   O43379-3   O43379-4   (Variant in position: 1078:A->T (in MCPH2, uncertain pathological significance))

Explore the universe of human proteins at neXtProt for WDR62: NX_O43379

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O43379

  • 2 DME Specific Peptides for WDR62 (O43379)
     QCLVKSP  LPPSPLE 

    WDR62 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001077430.1  NP_775907.4  

    ENSEMBL proteins: 
     ENSP00000368137   ENSP00000384792   ENSP00000467306   ENSP00000465525   ENSP00000270301  
     ENSP00000413475   ENSP00000373651  

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    Uscn Proteins for WDR62

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000922spindle pole IDA--
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IEA--


    WDR62 for ontologies           About GeneDecksing



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

    WDR62 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR001680 WD40_repeat
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry O43379

    ProtoNet protein and cluster: O43379

    UniProtKB/Swiss-Prot: WDR62_HUMAN, O43379
    Similarity: Contains 15 WD repeats


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

    Function Summary:

         UniProtKB/Swiss-Prot: WDR62_HUMAN, O43379
    Function: Required for cerebral cortical development. Plays a role in neuronal proliferation and migration

    Enzyme Numbers (IUBMB): EC 2.7.7.382 EC 2.7.11.12

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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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for WDR62

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5/15 Interacting proteins for WDR62 (O433792, 3 ENSP000003847924) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAPK9P459842, 3, ENSP000003214104MINT-68376 I2D: score=5 STRING: ENSP00000321410
    LRIF1Q5T3J32, 3MINT-63143 I2D: score=4 
    TBPP202263, ENSP000002303544I2D: score=4 STRING: ENSP00000230354
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    RALYQ9UKM93I2D: score=4 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0021987cerebral cortex development IMP--
    GO:0022008neurogenesis IMP--


    WDR62 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 WDR62
    Search CenterWatch for drugs/clinical trials and news about WDR62 

    (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, 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 WDR62 gene (2 alternative transcripts): 
    NM_001083961.1  NM_173636.4  

    Unigene Cluster for WDR62:

    WD repeat domain 62
    Hs.116244  [show with all ESTs]
    Unigene Representative Sequence: NM_001083961
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378860(uc002odb.2) ENST00000401500(uc002odd.2 uc002odc.2)
    ENST00000588157 ENST00000587391 ENST00000270301 ENST00000427823 ENST00000589953
    ENST00000388999(uc010eer.3)

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    Inhib. RNA
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    Additional cDNA sequence: 

    AK090617.1 AL117438.1 AL133651.1 BC017261.2 BC058939.1 BC128417.1 

    9 DOTS entries:

    DT.412222  DT.92473513  DT.97783587  DT.97797055  DT.100835202  DT.100754566  DT.121465257  DT.95076463 
    DT.99961200 

    24/102 AceView cDNA sequences (see all 102):

    BI117973 CF272517 BU176206 BG332912 CR621762 AW574718 BQ956945 AL041037 
    BU658898 BX283488 BE270083 AI049908 BX280857 BU187036 AL041673 BM908017 
    BQ425163 BQ690296 BE388161 BC058939 AL133651 BI085576 NM_173636 BI460486 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for WDR62 (see all 8)    About this scheme

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

    ExUns: 21 ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31
    SP1:                                      -                                             
    SP2:                                                                                    
    SP3:                                                                                    
    SP4:                                                                                    
    SP5:                                                                                    


    ECgene alternative splicing isoforms for WDR62

    (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

    WDR62 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAGGCCACTG

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

    About this image
    See WDR62 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for WDR62

    SOURCE GeneReport for Unigene cluster: Hs.116244

    UniProtKB/Swiss-Prot: WDR62_HUMAN, O43379
    Tissue specificity: Present in fetal brain, enriched within the ventricular and subventricular zone (at protein level).
    In the embryonic brain it is expressed in mitotic neural precursor cells

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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 common ancestor of eukaryotes.

    Orthologs for WDR62 gene from 5/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia WDR626
    --
    72(a)
    1 ↔ 1
    GL344420.1(699-18010)
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-152c12.21 si:ch211-152c12.2 54.71(n)
    46.81(a)
      570949  XM_694487.3  XP_699579.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG73376
    --
    18(a)
    1 → many
    2L(1884622-1944289)
    worm
    (Caenorhabditis elegans)
    Secernentea H24G06.16
    Protein H24G06.1, isoform d
    12(a)
    1 → many
    V(9446149-9460615)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G090806
    transducin/WD40 domain-containing protein
    18(a)
    1 → many
    3(2776259-2781785)


    ENSEMBL Gene Tree for WDR62 (if available)
    TreeFam Gene Tree for WDR62 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for WDR62 gene
    EML32  EML52  MAPKBP12  WDR162  EML12  EML22  EML42  EML62  
    WDR902  
    3 SIMAP similar genes for WDR62 using alignment to 2 protein entries:     WDR62_HUMAN (see all proteins):
    DKFZp434J046    MAFK    MAPKBP1

    WDR62 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for WDR62
    PGOHUM00000248223


    (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

    10/989 NCBI SNPs in WDR62 are shown (see all 989    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1478756591,2
    Cpathogenic33081050(+) TGGACG/AAGCTG 4 /K /E mis11Minor allele frequency- A:0.00NA 4552
    rs797545981,2
    F,--33053563(+) TGTGCC/TTCAGT 2 -- int11Minor allele frequency- T:0.05WA 118
    rs598491401,2
    --33053589(+) ATGAGA/CATAAT 2 -- int12Minor allele frequency- C:0.07CSA WA 120
    rs124621711,2
    C,H--33054142(+) gtttcA/G/Tccatc 2 -- int11CSA 2
    rs621097471,2
    C,F,--33054447(+) TTCTTC/TGTGGC 2 -- int16Minor allele frequency- T:0.19WA NA 246
    rs730340861,2
    C,--33054490(+) AAAAGG/TACTAA 2 -- int10--------
    rs579347991,2
    --33054712(+) AAGGCA/GGAGGT 2 -- int10--------
    rs748187621,2
    --33055818(+) TGACCC/TGGCAG 2 -- int10--------
    rs576584671,2
    C,F,--33055839(+) TTAAAA/GCAATT 2 -- int16Minor allele frequency- G:0.18WA NA 246
    rs748431901,2
    F,--33056098(+) GCTCAA/GGTGAT 2 -- int11Minor allele frequency- G:0.03WA 118

    HapMap Linkage Disequilibrium report for WDR62 (36545783 - 36596012 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for WDR62
         1 CNV: 5098
    Human Gene Mutation Database (HGMD): WDR62

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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

    WDR62 for disorders           About GeneDecksing

    OMIM gene information: 613583   
    OMIM disorders: 600176  
    UniProtKB/Swiss-Prot: WDR62_HUMAN, O43379
  • Defects in WDR62 are the cause of microcephaly primary type 2 (MCPH2) [MIM:604317]. A disease characterized by
  • microcephaly, moderate to severe mental retardation, and various type of cortical malformations in most patients.
    Microcephaly is defined as a head circumference more than 3 standard deviations below the age-related mean. Cortical
    malformations include pachygyria with cortical thickening, microgyria, lissencephaly, hypoplasia of the corpus
    callosum, schizencephaly. All affected individuals have delayed psychomotor development. Some patients have seizures

    11 diseases for WDR62:    About MalaCards
    microcephaly, cortical malformations, and mental retardation    microcephaly    cerebritis    corpus callosum
    pachygyria    schizencephaly    polymicrogyria    brain malformations
    lissencephaly    malaria    neuronitis

    1 disease from the University of Copenhagen DISEASES database for WDR62:
    Microcephaly

    Export disorders for WDR62 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 WDR62 gene, integrated from 9 sources (see all 31):
    (articles sorted by number of sources associating them with WDR62)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in WDR62, encoding a centrosomal and nuclea r protein, in Indian primary microcephaly families with cortical malformations. (PubMed id 21496009)1, 2, 3 Bhat V....Kumar A. (2011)
    2. Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architec ture. (PubMed id 20890278)1, 2, 3 Yu T.W....Walsh C.A. (2010)
    3. Whole-exome sequencing identifies recessive WDR62 mut ations in severe brain malformations. (PubMed id 20729831)1, 2, 3 BilgA1var K....GA1nel M. (2010)
    4. A novel c-Jun N-terminal kinase (JNK)-binding protein WDR62 is recruited to stress granules and mediates a nonclassical JNK activati on. (PubMed id 19910486)1, 3 Wasserman T....Aronheim A. (2010)
    5. WDR62 is associated with the spindle pole and is muta ted in human microcephaly. (PubMed id 20890279)1, 2 Nicholas A.K....Woods C.G. (2010)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (2004)
    9. WDR62 missense mutation in a consanguineous family wit h primary microcephaly. (PubMed id 22308068)1 Bacino C.A....Bonnen P.E. (2012)
    10. Docking interactions of the JNK scaffold protein WDR6 2. (PubMed id 21749326)1 Cohen-Katsenelson K....Aronheim A. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 284403 HGNC: 24502 AceView: C19orf14 Ensembl:ENSG00000075702 euGenes: HUgn284403
    ECgene: WDR62 H-InvDB: WDR62

    (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 WDR62 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 WDR62 gene:
    Search GeneIP for patents involving WDR62

    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 , 26 Apr 2013

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