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

KLHDC4 Gene

protein-coding   GIFtS: 45
GCID: GC16M087741

kelch domain containing 4

 Explore 1 disease affiliated with
KLHDC4 via our new
 Human Malady Compendium 
Biological research products
for KLHDC4
    

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

Aliases
Kelch Domain Containing 41 2
DKFZp434G05221
Kelch Domain-Containing Protein 42

External Ids:    HGNC: 252721   Entrez Gene: 547582   Ensembl: ENSG000001047317   UniProtKB: Q8TBB53   

Export aliases for KLHDC4 gene to outside databases

Previous GC identifers: GC00U916984 GC16M086298 GC16M073482


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

  --

(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_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KLHDC4 gene promoter:
         SRF   AML1a   GCNF   SRF (504 AA)   FOXL1   POU2F1   POU2F1a   GCNF-1   GCNF-2   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKLHDC4 promoter sequence
   Search SABiosciences Chromatin IP Primers for KLHDC4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KLHDC4


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

Entrez Gene cytogenetic band: 16q24.3   Ensembl cytogenetic band:  16q24.2   HGNC cytogenetic band: 16q24

KLHDC4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KLHDC4 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M087741:  view genomic region     (about GC identifiers)

Start:
87,730,091 bp from pter      End:
87,799,598 bp from pter
Size:
69,508 bases      Orientation:
minus 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: KLDC4_HUMAN, Q8TBB5 (See protein sequence)
Recommended Name: Kelch domain-containing protein 4  
Size: 520 amino acids; 57892 Da
Secondary accessions: D3DUN3 D3DUN4 D3DUN5 Q96F29 Q9BVN3
Alternative splicing: 3 isoforms:  Q8TBB5-1   Q8TBB5-2   Q8TBB5-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KLHDC4: NX_Q8TBB5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8TBB5

  • KLHDC4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001171783.1  NP_001171785.1  NP_060036.2  

    ENSEMBL proteins: 
     ENSP00000457570   ENSP00000262530   ENSP00000325717   ENSP00000270583   ENSP00000455824  
     ENSP00000455780   ENSP00000455666   ENSP00000455214   ENSP00000457990   ENSP00000457098  
     ENSP00000454681   ENSP00000457857  

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    Novus Biologicals KLHDC4 Protein
    Novus Biologicals KLHDC4 Lysates
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    Uscn Proteins for KLHDC4


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

    KLHDC4 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR011498 Kelch_2
     IPR015915 Kelch-typ_b-propeller

    Graphical View of Domain Structure for InterPro Entry Q8TBB5

    ProtoNet protein and cluster: Q8TBB5

    1 Blocks protein family: IPB011498 Kelch

    UniProtKB/Swiss-Prot: KLDC4_HUMAN, Q8TBB5
    Similarity: Contains 6 Kelch 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

    miRNA
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHDC4


    (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 KLHDC4

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/12 Interacting proteins for KLHDC4 (Q8TBB53 ENSP000002705834) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PNO1Q9NRX13, ENSP000002636574I2D: score=4 STRING: ENSP00000263657
    WDR1O750833I2D: score=5 
    PHBP352323I2D: score=4 
    DYNC1H1Q142043I2D: score=3 
    HSPA8P111423I2D: score=2 
    About this table

    (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 KLHDC4
    Search CenterWatch for drugs/clinical trials and news about KLHDC4 / KLDC4 

    (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 KLHDC4 gene (3 alternative transcripts): 
    NM_001184854.1  NM_001184856.1  NM_017566.3  

    Unigene Cluster for KLHDC4:

    Kelch domain containing 4
    Hs.123450  [show with all ESTs]
    Unigene Representative Sequence: AY251274
    18/25 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000568444 ENST00000567298(uc002fkh.1) ENST00000568346 ENST00000568499
    ENST00000316853(uc010cht.2) ENST00000353170 ENST00000347925(uc002fkj.3)
    ENST00000566349 ENST00000270583(uc002fki.3 uc002fkl.3) ENST00000569487
    ENST00000562155 ENST00000562261 ENST00000566661(uc010chu.1) ENST00000562913
    ENST00000567513 ENST00000562872 ENST00000564484 ENST00000565328

    miRNA
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    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KLHDC4
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    SwitchGear 3'UTR luciferase reporter plasmidKLHDC4 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KLHDC4 (see all 4)
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    Additional cDNA sequence: 

    AK001742.1 AK023986.1 AK024496.1 AK057211.1 AK092895.1 AK097097.1 AK098630.1 AL133107.1 
    AY251274.1 BC001044.2 BC011680.2 BC022969.1 

    21 DOTS entries:

    DT.91741629  DT.309421  DT.100036618  DT.91741634  DT.100036617  DT.95151206  DT.75148878  DT.100787895 
    DT.91675958  DT.120710349  DT.120710391  DT.92053471  DT.100787896  DT.101978603  DT.120710322  DT.120710347 
    DT.120710380  DT.120710382  DT.120710384  DT.91658278  DT.120710400 

    24/190 AceView cDNA sequences (see all 190):

    AW137862 AI276461 BM715028 BQ013761 AK098630 CR600527 BC001044 BG574152 
    BX096670 BE280463 AI652077 AI160590 BE407092 NM_017566 CA455055 AK127434 
    BF001898 BM760792 AL133107 AK092895 BQ017135 CB529461 BM556502 AI934942 

    GeneLoc Exon Structure

    5/24 Alternative Splicing Database (ASD) splice patterns (SP) for KLHDC4 (see all 24)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c · 8d ^ 9 ^ 10 ^ 11a · 11b ·
    SP1:                                      -     -     -           -                 -     -                                               -     -     -         
    SP2:                                      -     -     -           -                 -     -                                               -     -     -     -   
    SP3:                                      -     -     -     -     -     -     -     -     -                                               -     -     -         
    SP4:                                                                                                                                            -     -         
    SP5:                                                                                                                                      -     -     -         

    ExUns: 11c · 11d · 11e ^ 12 ^ 13a · 13b · 13c · 13d ^ 14 ^ 15 ^ 16a · 16b · 16c ^ 17a · 17b ^ 18
    SP1:              -     -                                         -                 -               
    SP2:  -     -     -     -                                         -                 -               
    SP3:              -     -                                         -                 -               
    SP4:              -     -                                         -                 -               
    SP5:              -     -                                         -                                 


    ECgene alternative splicing isoforms for KLHDC4

    (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

    KLHDC4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    About this image

    KLHDC4 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Intermediate MesodermIntermediate MesodermIntermediate Mesoderm
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See KLHDC4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KLHDC4

    SOURCE GeneReport for Unigene cluster: Hs.123450
        SABiosciences Custom PCR Arrays for KLHDC4
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHDC4

    (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 KLHDC4 gene from 9/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Klhdc41 , 5 kelch domain containing 41, 5 80.6(n)1
    79.96(a)1
      8 (70.76 cM)5
    2348251  NM_145605.21  NP_663580.21 
     1217963135 
    chicken
    (Gallus gallus)
    Aves KLHDC41 kelch domain containing 4 73.62(n)
    75.48(a)
      415831  NM_001030578.1  NP_001025749.1 
    lizard
    (Anolis carolinensis)
    Reptilia KLHDC46
    --
    52(a)
    1 ↔ 1
    GL344378.1(1448-11439)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC533952 hypothetical protein MGC53395 72.86(n)    BC043978.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb95f042 Transcribed sequence with weak similarity to protein more 77.64(n)    BQ617456.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG40691 CG4069 52.85(n)
    43.5(a)
      39437  NM_140333.2  NP_648590.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes KEL3(YPL263C)4
    KEL31
    Cytoplasmic protein of unknown function4
    Kel3p1
    45.55(n)1
    33.4(a)1
      16(46506-44551)4
    8558651, 4  NP_015060.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G503101 kelch repeat-containing protein 50.5(n)
    42.12(a)
      835096  NM_124410.3  NP_568723.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g04836001 hypothetical protein 48.75(n)
    41.41(a)
      4336203  NM_001059661.1  NP_001053126.1 


    ENSEMBL Gene Tree for KLHDC4 (if available)
    TreeFam Gene Tree for KLHDC4 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KLHDC4 gene
    1 SIMAP similar gene for KLHDC4 using alignment to 8 protein entries:     KLDC4_HUMAN (see all proteins):
    DKFZp434G0522

    KLHDC4 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for KLHDC4
    PGOHUM00000246106


    (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

    10/1893 NCBI SNPs in KLHDC4 are shown (see all 1893    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1889575961,2
    --87740919(+) AGCCTC/GCCTTC 3 -- int10--------
    rs561680791,2
    C,--87740930(+) CTGTCG/ACTTTG 3 -- int12Minor allele frequency- A:0.10WA 120
    rs1502244601,2
    --87740946(+) GCTAAA/TCCTAA 3 -- int10--------
    rs1929402411,2
    --87740996(+) CCACAG/TCCTCC 3 -- int10--------
    rs1391683241,2
    --87741012(+) ACCACA/GCGGCG 3 -- int10--------
    rs1429805491,2
    --87741077(+) CCCCCA/GTGTGC 3 -- int10--------
    rs1474676981,2
    --87741116(+) AGAACC/TGGGAA 3 -- int10--------
    rs770168611,2
    C,--87741168(+) AGAGGC/TTGATC 3 -- int14Minor allele frequency- T:0.13CSA WA NA EA 359
    rs1401876401,2
    --87741178(+) CCCAAC/GTGTGA 3 -- int10--------
    rs118595211,2
    C,F,H,--87741225(+) CAGAAG/AGAAAG 3 -- int13Minor allele frequency- A:0.03NA WA 244

    HapMap Linkage Disequilibrium report for KLHDC4 (87730091 - 87799598 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 6 variations for KLHDC4
         2 CNVs: 67077 77453
         4 Indels: 25714 25715 41809 34403

    SABiosciences Cancer Mutation PCR Assays
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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

    KLHDC4 for disorders           About GeneDecksing

    1 disease for KLHDC4:    About MalaCards
    malaria


    Export disorders for KLHDC4 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 KLHDC4 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with KLHDC4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    2. 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)
    3. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    4. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    5. Genome-wide YFP fluorescence complementation screen id entifies new regulators for telomere signaling in human cells. (PubMed id 21044950)1 Lee O.H....Songyang Z. (2011)
    6. Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis. (PubMed id 18220336)2 Cantin G.T....Yates J.R. III (2008)
    7. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    8. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    10. Large-scale characterization of HeLa cell nuclear phosphoproteins. (PubMed id 15302935)1 Beausoleil S.A....Gygi S.P. (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)
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    Entrez Gene: 54758 HGNC: 25272 AceView: KLHDC4 Ensembl:ENSG00000104731 euGenes: HUgn54758
    ECgene: KLHDC4 H-InvDB: KLHDC4

    (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 KLHDC4 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 KLHDC4 gene:
    Search GeneIP for patents involving KLHDC4

    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: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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