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HKDC1 Gene

protein-coding   GIFtS: 56
GCID: GC10P070980

Hexokinase Domain Containing 1

  See HKDC1-related disease
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
Hexokinase Domain Containing 11 2
Hexokinase Domain-Containing Protein 12 3
EC 2.7.1.13 8
Putative Hexokinase HKDC12
EC 2.7.18

External Ids:    HGNC: 233021   Entrez Gene: 802012   Ensembl: ENSG000001565107   UniProtKB: Q2TB903   

Export aliases for HKDC1 gene to outside databases

Previous GC identifers: GC10U900457 GC10P070651 GC10P064980


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for HKDC1 Gene:
HKDC1 (hexokinase domain containing 1) is a protein-coding gene. Diseases associated with HKDC1 include amebiasis. GO annotations related to this gene include glucokinase activity and mannokinase activity. An important paralog of this gene is HK3.


(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_000010.10  NC_018921.2  NT_030059.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the HKDC1 gene promoter:
         COUP-TF1   GR   C/EBPbeta   GR-beta   COUP   CUTL1   HNF-4alpha1   GATA-1   COUP-TF   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHKDC1 promoter sequence
   Search Chromatin IP Primers for HKDC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HKDC1


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

Entrez Gene cytogenetic band: 10q22.1   Ensembl cytogenetic band:  10q22.1   HGNC cytogenetic band: 10q22.1

HKDC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HKDC1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P070980:  view genomic region     (about GC identifiers)

Start:
70,980,059 bp from pter      End:
71,027,315 bp from pter
Size:
47,257 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: HKDC1_HUMAN, Q2TB90 (See protein sequence)
Recommended Name: Putative hexokinase HKDC1  
Size: 917 amino acids; 102545 Da
Sequence caution: Sequence=AAH21278.1; Type=Frameshift; Positions=457; Sequence=BAB15478.1; Type=Frameshift;
Positions=345;
Secondary accessions: B5MDN9 Q2TB91 Q5VTC7 Q7Z373 Q8WU37 Q96EH2 Q9H5Y9
Alternative splicing: 3 isoforms:  Q2TB90-1   Q2TB90-2   Q2TB90-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HKDC1: NX_Q2TB90

Explore proteomics data for HKDC1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for HKDC1 (Q2TB90) (see all 23)
     DIRTEFD  PDGTEKG  EWGAFGD  TMMTCGY 


    See HKDC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_079406.3  
    ENSEMBL proteins: 
     ENSP00000346643   ENSP00000378521  

    HKDC1 Human Recombinant Protein Products:

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    Novus Biologicals HKDC1 Proteins
    Novus Biologicals HKDC1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HKDC1

     
    Search eBioscience for Proteins for HKDC1 

     
    antibodies-online proteins for HKDC1 (4 products) 

     
    antibodies-online peptides for HKDC1

    HKDC1 Antibody Products:

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    antibodies-online antibodies for HKDC1 (15 products) 

    HKDC1 Assay Products:

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    Cloud-Clone Corp. ELISAs for HKDC1
    Cloud-Clone Corp. CLIAs for HKDC1
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    antibodies-online kits for HKDC1 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR019807 Hexokinase_CS
     IPR001312 Hexokinase
     IPR022672 Hexokinase_N
     IPR022673 Hexokinase_C

    Graphical View of Domain Structure for InterPro Entry Q2TB90

    ProtoNet protein and cluster: Q2TB90

    UniProtKB/Swiss-Prot: HKDC1_HUMAN, Q2TB90
    Similarity: Belongs to the hexokinase family
    Similarity: Contains 2 hexokinase type-1 domains
    Similarity: Contains 2 hexokinase type-2 domains


    Find genes that share domains with HKDC1           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: HKDC1_HUMAN, Q2TB90
    Catalytic activity: ATP + D-hexose = ADP + D-hexose 6-phosphate

         Enzyme Numbers (IUBMB): EC 2.7.1.11 2 EC 2.7.12

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004340glucokinase activity IBA--
    GO:0005524ATP binding IEA--
    GO:0008865fructokinase activity IBA--
    GO:0016773phosphotransferase activity, alcohol group as acceptor ----
    GO:0019158mannokinase activity IBA--
         
    Find genes that share ontologies with HKDC1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for HKDC1:
     Increased cell death HMECs cel 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for HKDC1

    miRNA
    Products:
        
    miRTarBase miRNAs that target HKDC1:
    hsa-mir-124-3p (MIRT022488)

    Block miRNA regulation of human, mouse, rat HKDC1 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate HKDC1:
    hsa-miR-185* hsa-miR-1243 hsa-miR-876-5p hsa-miR-551b* hsa-miR-3167 hsa-miR-3144-3p
    SwitchGear 3'UTR luciferase reporter plasmidHKDC1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HKDC1
    Predesigned siRNA for gene silencing in human, mouse, rat HKDC1

    Gene Editing
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    OriGene ORF clones in mouse, rat for HKDC1
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    GenScript: all cDNA clones in your preferred vector: HKDC1 (NM_025130)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HKDC1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HKDC1
    Addgene plasmids for HKDC1 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for HKDC1
    Browse ESI BIO Cell Lines and PureStem Progenitors for HKDC1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HKDC1


    (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
    mitochondrion4
    nucleus4
    cytosol3
    extracellular1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005739mitochondrion ----
    GO:0005829cytosol IBA--

    Find genes that share ontologies with HKDC1           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 HKDC1 About   (see all 12)  
    See pathways by source

    SuperPathContained pathways About
    1Amino sugar and nucleotide sugar metabolism
    Amino sugar and nucleotide sugar metabolism
    UDP-N-acetyl-D-galactosamine biosynthesis II0.00
    2GDP-glucose biosynthesis
    GDP-glucose biosynthesis0.40
    glucose and glucose-1-phosphate degradation0.00
    trehalose degradation II (trehalase)0.40
    3Galactose metabolism
    Galactose metabolism0.44
    Butirosin and neomycin biosynthesis0.00
    4Glycolysis and gluconeogenesis short map
    Glycolysis / Gluconeogenesis0.46
    5Glucuronidation
    Starch and sucrose metabolism0.41


    Find genes that share SuperPaths with HKDC1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for HKDC1
        GDP-glucose biosynthesis
    UDP-N-acetyl-D-galactosamine biosynthesis II
    trehalose degradation II (trehalase)
    glucose and glucose-1-phosphate degradation


    Selected Kegg Pathways  (Kegg details for HKDC1) (see all 12):
        Glycolysis / Gluconeogenesis
    Fructose and mannose metabolism
    Galactose metabolism
    Starch and sucrose metabolism
    Amino sugar and nucleotide sugar metabolism

    UniProtKB/Swiss-Prot: HKDC1_HUMAN, Q2TB90
    Pathway: Carbohydrate metabolism; hexose metabolism

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HKDC1
    Interactions:

        Search GeneGlobe Interaction Network for HKDC1

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

    Selected Interacting proteins for HKDC1 (ENSP000003466434) via UniProtKB, MINT, STRING, and/or I2D (see all 56)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    AMDHD2ENSP000003074814STRING: ENSP00000307481
    C12orf5ENSP000001792594STRING: ENSP00000179259
    GNPDA1ENSP000003118764STRING: ENSP00000311876
    GNPDA2ENSP000002954484STRING: ENSP00000295448
    GNPNAT1ENSP000002164104STRING: ENSP00000216410
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001678cellular glucose homeostasis IBA--
    GO:0005975carbohydrate metabolic process ----
    GO:0006096glycolytic process IBA--
    GO:0046835carbohydrate phosphorylation IBA--
    GO:0051156glucose 6-phosphate metabolic process IBA--

    Find genes that share ontologies with HKDC1           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 HKDC1



    (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 HKDC1 gene: 
    NM_025130.3  

    Unigene Cluster for HKDC1:

    Hexokinase domain containing 1
    Hs.522988  [show with all ESTs]
    Unigene Representative Sequence: NM_025130
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000354624(uc001jpf.4 uc010qje.2 uc009xqb.3) ENST00000488706
    ENST00000470920 ENST00000395086
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat HKDC1 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate HKDC1:
    hsa-miR-185* hsa-miR-1243 hsa-miR-876-5p hsa-miR-551b* hsa-miR-3167 hsa-miR-3144-3p
    SwitchGear 3'UTR luciferase reporter plasmidHKDC1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for HKDC1
    Predesigned siRNA for gene silencing in human, mouse, rat HKDC1
    Clone
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    OriGene clones in human, mouse for HKDC1 (see all 7)
    OriGene ORF clones in mouse, rat for HKDC1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HKDC1 (NM_025130)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HKDC1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HKDC1
    Addgene plasmids for HKDC1 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for HKDC1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HKDC1
      QuantiTect SYBR Green Assays in human, mouse, rat HKDC1
      QuantiFast Probe-based Assays in human, mouse, rat HKDC1

    Additional mRNA sequence: 

    AK026414.1 AK095086.1 AK291024.1 AK303408.1 BC012337.1 BC021278.2 BC069201.1 BC110504.1 
    BC110505.2 

    6 DOTS entries:

    DT.92418174  DT.101980253  DT.65287645  DT.102824413  DT.121282699  DT.75108663 

    Selected AceView cDNA sequences (see all 71):

    AK026414 BU621064 BG326941 BQ686849 BC012337 BG751135 AW194769 BM674073 
    CA424586 AI559893 BQ188285 AI278874 BX283203 BX538078 AW300667 AW271679 
    AA494373 BG386121 AI339520 BF063294 R11650 AI492487 AI309557 AI473532 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for HKDC1    About this scheme

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


    ECgene alternative splicing isoforms for HKDC1

    (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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    HKDC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGTGGGGTG
    HKDC1 Expression
    About this image


    HKDC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Midbrain tegmentum
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Hindgut
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Metanephros
     
     Lower Urinary Tract (Urinary System)
             Ureter
    HKDC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HKDC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.522988
        Custom PCR Arrays for HKDC1
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for HKDC1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HKDC1
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    QuantiFast Probe-based Assays in human, mouse, rat HKDC1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HKDC1

    (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 eukaryotes.

    Orthologs for HKDC1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hkdc11 , 5 hexokinase domain containing 11, 5 86.76(n)1
    91.47(a)1
      10 (32.40 cM)5
    2160191  NM_145419.11  NP_663394.11 
     623831375 
    chicken
    (Gallus gallus)
    Aves HKDC11 hexokinase domain containing 1 75.37(n)
    84.43(a)
      423698  XM_421579.4  XP_421579.2 
    lizard
    (Anolis carolinensis)
    Reptilia HKDC16
    hexokinase domain containing 1
    83(a)
    1 ↔ 1
    GL343215.1(2042832-2079174)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia hkdc11 hexokinase domain containing 1 71.99(n)
    80.66(a)
      100493823  XM_002936858.2  XP_002936904.2 
    zebrafish
    (Danio rerio)
    Actinopterygii hkdc11 hexokinase domain containing 1 69.94(n)
    75.25(a)
      321224  NM_001115125.1  NP_001108597.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Hex-C6
    Hex-A6
    (see all 3)
    Hexokinase A
    (see all 3)
    40(a)
    38(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    2R(11106342-11107917)
    X(9479923-9483846)
    worm
    (Caenorhabditis elegans)
    Secernentea F14B4.26
    Protein F14B4.2, isoform a (F14B4.2) mRNA, complet...
    44(a)
    1 → many
    I(9271443-9278689) WBGene00008780
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HXK2(YGL253W)4 Hexokinase isoenzyme 2 that catalyzes phosphorylation more   --   7(23935-25395) 852639  NP_011261.1 
    rice
    (Oryza sativa)
    Liliopsida Os05g01871001 Os05g0187100 50.97(n)
    44.04(a)
      4338010  NM_001061370.1  NP_001054835.1 


    ENSEMBL Gene Tree for HKDC1 (if available)
    TreeFam Gene Tree for HKDC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HKDC1 gene
    HK32  HK22  HK12  GCK2  
    5 SIMAP similar genes for HKDC1 using alignment to 1 protein entry:     HKDC1_HUMAN:
    HK1    HK2    DKFZp686M1669    GCK    HK3

    Find genes that share paralogs with HKDC1           About GenesLikeMe



    (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 HKDC1 (see all 1256)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs20630461,2
    C,A,H--64978392(+) CGAGCC/GTCCTC 1 -- us2k118Minor allele frequency- G:0.00NA EA NS WA CSA 810
    rs1911351931,2
    --64978476(+) CTCAGA/GAGGCT 1 -- us2k10--------
    rs1832811531,2
    --64978534(+) TGAGAC/TTGAGC 1 -- us2k10--------
    rs1132522471,2
    C--64978614(+) TAACAT/ACCCAA 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1868146221,2
    --64978651(+) ATTGCA/GTATCT 1 -- us2k10--------
    rs1464824041,2
    --64978731(+) AATCAA/GACTTC 1 -- us2k10--------
    rs618686761,2
    C,F--64978784(+) CGTAAC/TCTTTC 1 -- us2k14Minor allele frequency- T:0.29NA 126
    rs1172193231,2
    C,F--64978917(+) GCCAGG/AGCAAC 1 -- us2k11Minor allele frequency- A:0.05NA 120
    rs1413076691,2
    --64978979(+) CACGTA/GCCTGT 1 -- us2k10--------
    rs352042341,2
    C--64979022(+) GATCA-/CCTGAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for HKDC1 (70980059 - 71027315 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for HKDC1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2407805CNV Deletion18987734
    esv2462035CNV Deletion19546169
    esv3686CNV Deletion18987735
    esv2738095CNV Deletion23290073
    esv6582CNV Loss19470904
    nsv508589CNV Loss20534489
    nsv895695CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HKDC1
    DNA2.0 Custom Variant and Variant Library Synthesis for HKDC1

    (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

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    1 disease for HKDC1:    
    About MalaCards
    amebiasis

    1 disease from the University of Copenhagen DISEASES database for HKDC1:
    Amebiasis

    Find genes that share disorders with HKDC1           About GenesLikeMe

    Genetic Association Database (GAD): HKDC1
    Human Genome Epidemiology (HuGE) Navigator: HKDC1 (4 documents)

    Export disorders for HKDC1 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)
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    PubMed articles for HKDC1 gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with HKDC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    2. Case-control genome-wide association study of attention-deficit/hyperactivity disorder. (PubMed id 20732627)1, 4 Neale B.M....Biederman J. (J Am Acad Child Adolesc Psychiatry 2010)
    3. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)
    4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    7. Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies. (PubMed id 23903356)1 Hayes M.G....Lowe W.L. (Diabetes 2013)
    8. Proteomic analysis of the NOS2 interactome in human airway epithelial cells. (PubMed id 23438482)1 Foster M.W....Marshall H.E. (Nitric Oxide 2013)
    9. The global gene-expression profiles of U-937 human macrophages treated with Tat peptide and Tat-FITC conjugate. (PubMed id 22632162)1 Lin C.W....Jan M.S. (J Drug Target 2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)

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

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    Entrez Gene: 80201 HGNC: 23302 AceView: FLJ22761 Ensembl:ENSG00000156510 euGenes: HUgn80201
    ECgene: HKDC1 Kegg: 80201 H-InvDB: HKDC1

    (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 HKDC1 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 HKDC1 gene:
    Search GeneIP for patents involving HKDC1

    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
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