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KHK Gene

protein-coding   GIFtS: 63
GCID: GC02P027309

Ketohexokinase (Fructokinase)

  See KHK-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ketohexokinase (Fructokinase)1 2
Hepatic Fructokinase2 3
ketohexokinase2
EC 2.7.1.33

External Ids:    HGNC: 63151   Entrez Gene: 37952   Ensembl: ENSG000001380307   OMIM: 6140585   UniProtKB: P500533   

Export aliases for KHK gene to outside databases

Previous GC identifers: GC02P027231 GC02P027402 GC02P027267 GC02P027284 GC02P027221 GC02P027051


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for KHK Gene:
This gene encodes ketohexokinase that catalyzes conversion of fructose to fructose-1-phosphate. The product of
this gene is the first enzyme with a specialized pathway that catabolizes dietary fructose. Alternatively spliced
transcript variants encoding different isoforms have been identified. (provided by RefSeq, Jul 2008)

GeneCards Summary for KHK Gene:
KHK (ketohexokinase (fructokinase)) is a protein-coding gene. Diseases associated with KHK include fructosuria, and fructosuria, essential.




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KHK gene promoter:
         ER-alpha   Pax-5   Meis-1b   C/EBPalpha   Arnt   PPAR-alpha   E2F-1   E2F   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKHK promoter sequence
   Search Chromatin IP Primers for KHK

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KHK


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

Entrez Gene cytogenetic band: 2p23.3   Ensembl cytogenetic band:  2p23.3   HGNC cytogenetic band: 2p23.3-p23.2

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P027309:  view genomic region     (about GC identifiers)

Start:
27,309,611 bp from pter      End:
27,323,640 bp from pter
Size:
14,030 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: KHK_HUMAN, P50053 (See protein sequence)
Recommended Name: Ketohexokinase  
Size: 298 amino acids; 32730 Da
Subunit: Homodimer
Selected PDB 3D structures from and Proteopedia for KHK (see all 13):
2HLZ (3D)        2HQQ (3D)        2HW1 (3D)        3B3L (3D)        3NBV (3D)        3NBW (3D)    
Secondary accessions: Q6IBK2 Q99532 Q9BRJ3 Q9UMN1
Alternative splicing: 2 isoforms:  P50053-1   P50053-2   (More widely distributed but with a low expression level)

Explore the universe of human proteins at neXtProt for KHK: NX_P50053

Explore proteomics data for KHK at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys134
  • Modification sites at PhosphoSitePlus

  • See KHK Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000212.1  NP_006479.1  

    ENSEMBL proteins: 
     ENSP00000260599   ENSP00000260598   ENSP00000404741  
    Reactome Protein details: P50053

    KHK Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Proteins for KHK
    OriGene Protein Over-expression Lysate for KHK
    OriGene MassSpec for KHK
    OriGene Custom Protein Services for KHK
    GenScript Custom Purified and Recombinant Proteins Services for KHK
    Novus Biologicals KHK Proteins
    Novus Biologicals KHK Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for KHK
    Cloud-Clone Corp. Proteins for KHK

     
    Search eBioscience for Proteins for KHK 

     
    antibodies-online proteins for KHK (18 products) 

     
    antibodies-online peptides for KHK

    KHK Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for KHK (P50053, Q6IBK2)
    Cloud-Clone Corp. Antibodies for KHK
    ThermoFisher Antibody for KHK
    antibodies-online antibodies for KHK (72 products) 

    KHK Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for KHK
    Cloud-Clone Corp. CLIAs for KHK
    Search eBioscience for ELISAs for KHK 
    antibodies-online kits for KHK (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR011611 PfkB_dom

    Graphical View of Domain Structure for InterPro Entry P50053

    ProtoNet protein and cluster: P50053

    1 Blocks protein domain: IPB002173 Carbohydrate kinase

    UniProtKB/Swiss-Prot: KHK_HUMAN, P50053
    Similarity: Belongs to the carbohydrate kinase PfkB family


    Find genes that share domains with KHK           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KHK_HUMAN, P50053
    Catalytic activity: ATP + D-fructose = ADP + D-fructose 1-phosphate
    Enzyme regulation: Requires potassium. Inhibition by ADP

         Genatlas biochemistry entry for KHK:
    ketohexokinase,fructose metabolism,energy pathway,expressed in liver,renal cortex and small intestine

         Enzyme Number (IUBMB): EC 2.7.1.31

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004454ketohexokinase activity IDA--
    GO:0005524ATP binding IEA--
         
    Find genes that share ontologies with KHK           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for KHK:
     Increased apoptosis  Increased cell death HMECs cel 

         4 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Khk):
     embryogenesis  homeostasis/metabolism  no phenotypic analysis  reproductive system 

    Find genes that share phenotypes with KHK           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for KHK

    miRNA
    Products:
        
    miRTarBase miRNAs that target KHK:
    hsa-mir-375 (MIRT019807), hsa-mir-26b-5p (MIRT029406)

    Block miRNA regulation of human, mouse, rat KHK using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate KHK:
    hsa-miR-330-5p hsa-miR-320e hsa-miR-326 hsa-miR-2278
    SwitchGear 3'UTR luciferase reporter plasmidKHK 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for KHK
    Predesigned siRNA for gene silencing in human, mouse, rat KHK

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for KHK (see all 11)
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    GenScript: all cDNA clones in your preferred vector (see all 2): KHK (NM_000221)
    Sino Biological Human cDNA Clone for KHK
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KHK
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KHK
    Addgene plasmids for KHK 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for KHK
    Browse ESI BIO Cell Lines and PureStem Progenitors for KHK 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KHK


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    extracellular3
    plasma membrane2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with KHK           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for KHK About    
    See pathways by source

    SuperPathContained pathways About
    1Fructose and mannose metabolism
    Polyol pathway0.00
    Fructose catabolism0.00
    Fructose and mannose metabolism
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3MPS VI - Maroteaux-Lamy syndrome
    Metabolism of carbohydrates0.45
    4sucrose degradation V (mammalian)
    sucrose degradation V (mammalian)


    Find genes that share SuperPaths with KHK           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for KHK
        Polyol pathway
    sucrose degradation V (mammalian)


    1 Reactome Pathway for KHK
        Fructose catabolism


    2 Kegg Pathways  (Kegg details for KHK):
        Fructose and mannose metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: KHK_HUMAN, P50053
    Pathway: Carbohydrate metabolism; fructose metabolism

        Pathway & Disease-focused RT2 Profiler PCR Array including KHK: 

              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for KHK

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

    Selected Interacting proteins for KHK (P500533 ENSP000002605984) via UniProtKB, MINT, STRING, and/or I2D (see all 39)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARRB1P494073, ENSP000003771414I2D: score=2 STRING: ENSP00000377141
    DEDDO756183, ENSP000003569854I2D: score=2 STRING: ENSP00000356985
    LYZP616263, ENSP000002612674I2D: score=2 STRING: ENSP00000261267
    VIL1P093273, ENSP000002484444I2D: score=1 STRING: ENSP00000248444
    RANBP3Q9H6Z43, ENSP000003414834I2D: score=1 STRING: ENSP00000341483
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006001fructose catabolic process TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:0046835carbohydrate phosphorylation TAS7833921

    Find genes that share ontologies with KHK           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KHK

    5 HMDB Compounds for KHK    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    D-FructoseBeta-d-arabino-hexulose (see all 16)53188-23-1--
    D-Xylulose 1-phosphate1-phosphate-D-threo-Pentulose (see all 2)63323-91-1--
    Fructose 1-phosphateD-fructose-1-P (see all 7)15978-08-2--

    3 Novoseek inferred chemical compound relationships for KHK gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fructose 1-phosphate 94.1 9 16372272 (1), 11264590 (1), 17510913 (1), 19237742 (1)
    fructose 83.1 29 19158351 (3), 11264590 (2), 18395287 (2), 19237742 (2) (see all 10)
    atp 27.3 4 19158351 (1)



    Find genes that share compounds with KHK           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KHK gene (2 alternative transcripts): 
    NM_000221.2  NM_006488.2  

    Unigene Cluster for KHK:

    Ketohexokinase (fructokinase)
    Hs.567297  [show with all ESTs]
    Unigene Representative Sequence: NM_000221
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000260599(uc002ril.2 uc002rio.2) ENST00000260598(uc002rim.2)
    ENST00000490823 ENST00000429697 ENST00000469936 ENST00000464371
    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate KHK:
    hsa-miR-330-5p hsa-miR-320e hsa-miR-326 hsa-miR-2278
    SwitchGear 3'UTR luciferase reporter plasmidKHK 3' UTR sequence
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KHK
    Addgene plasmids for KHK 
    Primer
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    OriGene qPCR primer pairs and template standards for KHK
    OriGene qSTAR qPCR primer pairs in human, mouse for KHK
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KHK
      QuantiTect SYBR Green Assays in human, mouse, rat KHK
      QuantiFast Probe-based Assays in human, mouse, rat KHK

    Additional mRNA sequence: 

    AK130033.1 AK223075.1 BC006233.2 BX648873.1 CR456801.1 X78677.1 X78678.1 

    7 DOTS entries:

    DT.447396  DT.97794122  DT.100839952  DT.95104826  DT.97851257  DT.95104793  DT.95104795 

    Selected AceView cDNA sequences (see all 168):

    BM745791 CB163714 CB137667 CR591043 CR604516 NM_006488 BQ082087 BI762243 
    CR610051 CB148802 CB139063 CR625259 CR622479 CB130067 AL524741 AA342313 
    CR600808 AI347475 BM766020 BM745874 CB148839 CB148820 CR608955 X78678 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for KHK (see all 8)    About this scheme

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


    ECgene alternative splicing isoforms for KHK

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KHK expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KHK Expression
    About this image

    KHK Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KHK Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.567297

    UniProtKB/Swiss-Prot: KHK_HUMAN, P50053
    Tissue specificity: Most abundant in liver, kidney, gut, spleen and pancreas. Low levels also found in adrenal,
    muscle, brain and eye

        Pathway & Disease-focused RT2 Profiler PCR Array including KHK: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for KHK
    OriGene qSTAR qPCR primer pairs in human, mouse for KHK
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    QuantiFast Probe-based Assays in human, mouse, rat KHK
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KHK

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for KHK gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Khk1 , 5 ketohexokinase1, 5 81.21(n)1
    80.54(a)1
      5 (16.90 cM)5
    165481  NM_008439.31  NP_032465.21 
     309215565 
    lizard
    (Anolis carolinensis)
    Reptilia KHK6
    ketohexokinase (fructokinase)
    70(a)
    1 ↔ 1
    AAWZ02038918(434-4289)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia khk1 ketohexokinase (fructokinase) 67.66(n)
    69.31(a)
      100492918  XM_002943471.2  XP_002943517.2 
    zebrafish
    (Danio rerio)
    Actinopterygii khk1 ketohexokinase 64.88(n)
    64.43(a)
      436909  NM_001002636.1  NP_001002636.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG73283 ketohexokinase 35(a)
    (best of 2)
      76F2   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KHK (see all 430)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0060724
    Fructosuria (FRUCT)4--see VAR_0060722 G R mis40--------
    VAR_0060734
    Fructosuria (FRUCT)4--see VAR_0060732 A T mis40--------
    rs1048936431,2
    Cpathogenic127238288(+) AGCGCG/AGAGGC 4 /R /G mis11Minor allele frequency- A:0.00NA 4550
    rs1048936441,2
    Cpathogenic127238297(+) GCAACA/GCGTCC 4 T A mis10--------
    rs129993121,2
    F--27056525(+) ccaaaC/Gtgctg 2 -- int11Minor allele frequency- G:0.00NA 2
    rs23046821,2
    C,F,H--27230830(-) GTGCTG/CGGTGC 2 -- us2k118Minor allele frequency- C:0.25EA NA NS WA CSA 2567
    rs1832130591,2
    --27230996(+) AGAGGC/TCCTCG 2 -- us2k10--------
    rs1505960621,2
    C,F--27231081(+) CCTTCC/ACACTC 2 -- us2k11Minor allele frequency- A:0.00EU 1297
    rs1133644681,2
    C,F--27231091(+) CAGGAG/CTGGAG 2 -- us2k12Minor allele frequency- C:0.00CSA NA 4548
    rs1996123701,2
    --27231142(+) CTGCTC/GTGAGT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for KHK (27309611 - 27323640 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for KHK:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2673470CNV Deletion23128226
    nsv833603CNV Loss17160897
    nsv873752CNV Loss21882294
    nsv455974CNV Loss19166990
    nsv817673CNV Gain17921354

    Human Gene Mutation Database (HGMD): KHK
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KHK
    DNA2.0 Custom Variant and Variant Library Synthesis for KHK

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 614058   
    OMIM disorders: 229800  
    UniProtKB/Swiss-Prot: KHK_HUMAN, P50053
  • Fructosuria (FRUCT) [MIM:229800]: Benign defect of intermediary metabolism. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 3 diseases for KHK:    
    About MalaCards
    fructosuria    fructosuria, essential    obstructive jaundice


    Find genes that share disorders with KHK           About GenesLikeMe

    3 Novoseek inferred disease relationships for KHK gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carcinoma renal cell 27.3 1 16372272 (1)
    tumors 0 2 16372272 (2)
    cancer 0 1 16372272 (1)

    Genatlas disease: KHK
    fructosuria

    Genetic Association Database (GAD): KHK
    Human Genome Epidemiology (HuGE) Navigator: KHK (3 documents)

    Export disorders for KHK 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

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    PubMed articles for KHK gene, integrated from 10 sources (see all 38):
    (articles sorted by number of sources associating them with KHK)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase). (PubMed id 7833921)1, 2, 3, 9 Bonthron D.T.... Steinmann B. (Hum. Mol. Genet. 1994)
    2. Structures of alternatively spliced isoforms of human ketohexokinase. (PubMed id 19237742)1, 2, 9 Trinh C.H.... Phillips S.E. (Acta Crystallogr. D 2009)
    3. Structure and alternative splicing of the ketohexokinase gene. (PubMed id 9799106)1, 2, 9 Hayward B.E. and Bonthron D.T. (Eur. J. Biochem. 1998)
    4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    5. 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. (Genome Res. 2004)
    6. Co-localization of the ketohexokinase and glucokinase regulator genes to a 500-kb region of chromosome 2p23. (PubMed id 8662230)1, 9 Hayward B.E....Bonthron D.T. (Mamm. Genome 1996)
    7. The expression of ketohexokinase is diminished in human clear cell type of renal cell carcinoma. (PubMed id 16372272)1, 9 Hwa J.S....Kang K.R. (Proteomics 2006)
    8. Ketohexokinase-dependent metabolism of fructose induces proinflammatory mediators in proximal tubular cells. (PubMed id 19158351)1, 9 Cirillo P....Sautin Y.Y. (J. Am. Soc. Nephrol. 2009)
    9. Properties of normal and mutant recombinant human ketohexokinases and implications for the pathogenesis of essential fructosuria. (PubMed id 12941785)1, 9 Asipu A....Bonthron D.T. (Diabetes 2003)
    10. Impact of genetic polymorphisms of SLC2A2, SLC2A5, and KHK on metabolic phenotypes in hypertensive individuals. (PubMed id 23341889)1 Le M.T....Johnson J.A. (PLoS ONE 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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     ANDOR
    Aliases
    Disorders
    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)
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    Entrez Gene: 3795 HGNC: 6315 AceView: KHK Ensembl:ENSG00000138030 euGenes: HUgn3795
    ECgene: KHK Kegg: 3795 H-InvDB: KHK

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for KHK Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for KHK gene:
    Search GeneIP for patents involving KHK

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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