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

GK Gene

protein-coding   GIFtS: 62
GCID: GC0XP030671

glycerol kinase
 Explore 46 diseases affiliated with
GK via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for GK    

Aliases
for GK gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Glycerol Kinase1 2     EC 2.7.1.303 8
GK11 2     Glycerokinase3
GKD1 2     Glycerokinase3
ATP:Glycerol 3-Phosphotransferase2 3     

External Ids:    HGNC: 42891   Entrez Gene: 27102   Ensembl: ENSG000001988147   OMIM: 3004745   UniProtKB: P321893   

Export aliases for GK gene to outside databases

Previous GC identifers: GC0XP029171 GC0XP029355 GC0XP029873 GC0XP030032 GC0XP030431 GC0XP030581 GC0XP028409


Summaries
for GK gene

(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 GK:
The protein encoded by this gene belongs to the FGGY kinase family. This protein is a key enzyme in the regulation of
glycerol uptake and metabolism. It catalyzes the phosphorylation of glycerol by ATP, yielding ADP and
glycerol-3-phosphate. Mutations in this gene are associated with glycerol kinase deficiency (GKD). Alternatively
spliced transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Mar 2011)

UniProtKB/Swiss-Prot: GLPK_HUMAN, P32189
Function: Key enzyme in the regulation of glycerol uptake and metabolism




Genomic Views
for GK gene

(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_000023.10  NC_018934.1  NT_167197.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GK gene promoter:
         PPAR-gamma1   STAT3   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GK promoter sequence
   Search SABiosciences Chromatin IP Primers for GK

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


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

Entrez Gene cytogenetic band: Xp21.3   Ensembl cytogenetic band:  Xp21.2   HGNC cytogenetic band: Xp21.3

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

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP030671:  view genomic region     (about GC identifiers)

Start:
 30,671,476 bp from pter      End:
 30,748,725 bp from pter
Size:
 77,250 bases      Orientation:
 plus strand

Proteins
for GK gene

(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: GLPK_HUMAN, P32189 (See protein sequence)
Recommended Name: Glycerol kinase  
Size: 559 amino acids; 61245 Da
Subcellular location: Mitochondrion outer membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm. Note=In
sperm and fetal tissues, the majority of the enzyme is bound to mitochondria, but in adult tissues, such as liver
found in the cytoplasm
Sequence caution: Sequence=CAA48346.1; Type=Frameshift; Positions=201, 210, 459;
Secondary accessions: A6NJP5 B2R833 Q6IQ27 Q8IVR5 Q9UMP0 Q9UMP1
Alternative splicing: 4 isoforms:  P32189-3   P32189-1   P32189-2   P32189-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GK: NX_P32189

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P32189

    • 4/27 DME Specific Peptides for GK (P32189) (see all 27)
     TYGTGCF  GTIDSWL  TGGVNGG  NASRTML 

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

    REFSEQ proteins (4 alternative transcripts): 
    NP_000158.1  NP_001121599.1  NP_001191948.1  NP_976325.1  

    ENSEMBL proteins: 
     ENSP00000368229   ENSP00000368226   ENSP00000368228   ENSP00000418873   ENSP00000420676  
     ENSP00000419332   ENSP00000417942   ENSP00000368224   ENSP00000404682   ENSP00000419771  
     ENSP00000368221   ENSP00000401720  
    Reactome Protein details: P32189
    Human Recombinant Protein Products: 
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    Novus Biologicals GK Proteins
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    Uscn Proteins for GK

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm NAS--
    GO:0005741mitochondrial outer membrane NAS--
    GO:0005829cytosol TAS--


    GK for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for GK

    Protein Domains /
    Families
    for GK gene

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

    4 InterPro domains/families:
     IPR018485 Carb_kinase_FGGY_C
     IPR018483 Carb_kinase_FGGY_CS
     IPR005999 Glycerol_kin
     IPR018484 Carb_kinase_FGGY_N

    Graphical View of Domain Structure for InterPro Entry P32189

    ProtoNet protein and cluster: P32189

    1 Blocks protein family: IPB000577 Carbohydrate kinase

    UniProtKB/Swiss-Prot: GLPK_HUMAN, P32189
    Similarity: Belongs to the FGGY kinase family


    Function
    for GK gene

    (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: GLPK_HUMAN, P32189
    Function: Key enzyme in the regulation of glycerol uptake and metabolism
    Catalytic activity: ATP + glycerol = ADP + sn-glycerol 3-phosphate

         Genatlas biochemistry entry for GK:
    glycerol kinase,cytosolic

    Enzyme Number (IUBMB): EC 2.7.1.301 2

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GK
    8/38 QIAGEN miScript miRNA Assays for microRNAs that regulate GK (see all 38):
    hsa-miR-142-5p hsa-miR-548j hsa-miR-3607-3p hsa-miR-607 hsa-miR-4328 hsa-miR-570 hsa-miR-890 hsa-miR-548d-5p
    SwitchGear 3'UTR luciferase reporter plasmid: GK 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004370glycerol kinase activity NAS8401584
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--


    GK for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Gyktm1Wjc for GK
         7 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Gyk):
     behavior/neurological  endocrine/exocrine gland  growth/size  homeostasis/metabolism  liver/biliary system 
     mortality/aging  nervous system 

    GK for phenotypes           About GeneDecksing


    Pathways & Interactions
    for GK gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    		Metabolic pathways0.38
    2Fatty Acid Beta Oxidation
    		Fatty Acid Beta Oxidation1.00
    3PPAR signaling pathway
    		PPAR signaling pathway1.00
    4Glycerolipid metabolism
    		Glycerolipid metabolism1.00
    5glycerol degradation I
    		glycerol degradation I1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    4 BioSystems Pathways for GK 
        Type II diabetes mellitus
    Fatty Acid Beta Oxidation
    Triacylglyceride Synthesis
    glycerol degradation I

    4        Reactome Pathways for GK
        Metabolism
    Triglyceride Biosynthesis
    Fatty acid, triacylglycerol, and ketone body metabolism
    Metabolism of lipids and lipoproteins


    3         Kegg Pathways  (Kegg details for GK):
        Glycerolipid metabolism
    Metabolic pathways
    PPAR signaling pathway

    UniProtKB/Swiss-Prot: GLPK_HUMAN, P32189
    Pathway: Polyol metabolism; glycerol degradation via glycerol kinase pathway; sn-glycerol 3-phosphate from glycerol:
    step 1/1


    GK for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GK

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/12 Interacting proteins for GK (P321891 ENSP000003682264) via UniProtKB, MINT, STRING, and/or I2D (see all 12)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    NR4A1P227361, ENSP000002430504EBI-3926629,EBI-721550 STRING: ENSP00000243050
    UBCENSP000003448184STRING: ENSP00000344818
    AOX1ENSP000003638324STRING: ENSP00000363832
    APCSENSP000002550404STRING: ENSP00000255040
    CLPTM1LENSP000003138544STRING: ENSP00000313854
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006071glycerol metabolic process NAS--
    GO:0006072glycerol-3-phosphate metabolic process ----
    GO:0006641triglyceride metabolic process IMP8651297
    GO:0019432triglyceride biosynthetic process TAS--
    GO:0019563glycerol catabolic process IEA--


    GK for ontologies           About GeneDecksing



    Drugs & Compounds
    for GK gene

    (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

    GK for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GK

    5 HMDB Compounds for GK    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--
    Glycerol1,2,3-Trihydroxypropane (see all 22)56-81-5--
    Glycerol 3-phosphate1-(dihydrogen phosphate) Glycerol (see all 37)57-03-4--
    Norepinephrine(-)-(R)-Norepinephrine (see all 32)51-41-2--
    10/20 Novoseek chemical compound relationships for GK gene (see all 20)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycerol 92.1 306 9302256 (6), 9169099 (4), 10737976 (4), 16025401 (4) (see all 99)
    glycerol 3-phosphate 82.6 21 11112347 (2), 10364471 (2), 7812436 (1), 14641009 (1) (see all 15)
    dihydroxyacetone 57.7 1 11821387 (1)
    phosphoenolpyruvate 45.8 1 16524879 (1)
    rosiglitazone 40.9 2 16524879 (1), 17242918 (1)
    atp 40.8 18 10364471 (4), 8385421 (1), 16545593 (1), 17090661 (1) (see all 9)
    fructose-1,6-bisphosphate 36.4 1 9930671 (1)
    thiazolidinedione 34.2 3 16154425 (2)
    fatty acid 25.4 1 12767049 (1)
    pyruvate 24.9 1 16524879 (1)

    Search CenterWatch for drugs/clinical trials and news about GK / GLPK 

    Transcripts
    for GK gene

    (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 GK gene (4 alternative transcripts): 
    NM_000167.5  NM_001128127.2  NM_001205019.1  NM_203391.3  

    Unigene Cluster for GK:

    Glycerol kinase
    Hs.1466  [show with all ESTs]
    Unigene Representative Sequence: NM_001205019
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378946(uc004dch.4 uc004dci.4 uc011mka.2) ENST00000378943(uc022buj.1 uc010ngj.3 uc011mjz.2 uc010ngk.3)
    ENST00000378945 ENST00000481024 ENST00000479048 ENST00000487652 ENST00000471362
    ENST00000378941 ENST00000425166 ENST00000488296 ENST00000378938 ENST00000427190


    miRNA
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    8/38 QIAGEN miScript miRNA Assays for microRNAs that regulate GK (see all 38):
    hsa-miR-142-5p hsa-miR-548j hsa-miR-3607-3p hsa-miR-607 hsa-miR-4328 hsa-miR-570 hsa-miR-890 hsa-miR-548d-5p
    SwitchGear 3'UTR luciferase reporter plasmid: GK 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AK294304.1 AK294938.1 AK308238.1 AK313215.1 BC018009.1 BC037549.1 BC042421.1 BC071595.1 
    BX647604.1 L13943.1 X68285.1 X69886.1 

    15 DOTS entries:

    DT.442938  DT.95270365  DT.100693278  DT.100754328  DT.97833548  DT.65286840  DT.100735677  DT.75159223 
    DT.95270364  DT.97841339  DT.100754326  DT.121299398  DT.91696449  DT.92064336  DT.95342233 

    24/114 AceView cDNA sequences (see all 114):

    BC037549 BF970113 CD367213 CD674490 AA873120 T28960 AI078462 BC018009 
    NM_203391 AI001839 AW515614 BM931627 BG655516 BX647604 NM_000167 CD364476 
    BM817736 AA689298 AA361450 BM310564 AA377027 N35588 L13943 AL546208 

    GeneLoc Exon Structure


    Expression
    for GK gene

    (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

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

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

    GK expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    9 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyLoop of HenleLoop of Henle CellsKidney
    KidneyProximal TubuleProximal Tubule CellsKidney
    AdiposeInterscapular Brown Adipose DepotAdipose
    AdiposeThoracic Perivascular AdiposeAdipose
    KidneyEpithelial TubuleKidney
    KidneyLoop of HenleKidney
    KidneyMetanephrosKidney
    KidneyProximal TubuleKidney
    Skeletal MuscleExtraocular MusclesSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor E44 (Embryonic Progenitor Cell)

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

    SOURCE GeneReport for Unigene cluster: Hs.1466

    UniProtKB/Swiss-Prot: GLPK_HUMAN, P32189
    Tissue specificity: Highly expressed in the liver, kidney and testis. Isoform 2 and isoform 3 are expressed
    specifically in testis and fetal liver, but not in the adult liver

        SABiosciences Expression via Pathway-Focused PCR Arrays including GK: 
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              PPAR Targets in human mouse rat

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    In Situ
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    Orthologs
    for GK gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for GK gene from 8/34 species (see all 34)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves GK1 glycerol kinase 79.17(n)
    84.92(a)    		   418589  XM_003640511.1  XP_003640559.1 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    GK56
    		 --
    		 84(a)
    30(a)
    		 1 ↔ many
    possible ortholog
    		 3(129116465-129146022)
    3(21955380-21978549)
    zebrafish
    (Danio rerio)    		 Actinopterygii Dr.150062 Transcribed sequence with weak similarity to protein more 78.39(n)    CK238842.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Gyk1 , 3 glycerol kinase3
    Glycerol kinase1    		 52(a)
    (best of 4)3
    53.66(n)1
    54.51(a)1    		   61B23
    439131  NM_079916.31  NP_524655.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea R11F4.11 , 3 Glycerol kinase3
    Protein R11F4.11    		 49(a)
    (best of 2)3
    55.1(n)1
    51.72(a)1    		   II(4092010-4094080)3
    1737471  NM_062320.31  NP_494721.11 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons NHO11 glycerol kinase 53.78(n)
    52.83(a)    		   844385  NM_106694.3  NP_178161.1 
    rice
    (Oryza sativa)    		 Liliopsida Os04g06478001 hypothetical protein 55.33(n)
    54.25(a)    		   4337206  NM_001060606.1  NP_001054071.1 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria glpK6
    		 glycerol kinase
    		 48(a)
    		 1 → many
    		 Chromosome(4113737-4115245)


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

    Paralogs
    for GK gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GK gene
    GK22  GK52  
    3 SIMAP similar genes for GK using alignment to 10 protein entries:     GLPK_HUMAN (see all proteins):
    GK3P    GK2    GK5

    GK for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for GK
    PGOHUM00000245673 PGOHUM00000241472


    Genomic Variants
    for GK gene

    (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

    10/890 NCBI SNPs in GK are shown (see all 890)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1847909421,2
    		--30669516(+) TTCACA/GGTAAA 4 -- us2k10--------
    rs1411360551,2
    		--30669539(+) GCTGAA/GCTCAA 4 -- us2k10--------
    rs1879053471,2
    		--30669552(+) CTTCCA/GTCTAA 4 -- us2k10--------
    rs1918261371,2
    		--30669609(+) GTGACA/GCCTGA 4 -- us2k10--------
    rs1843019811,2
    		--30669722(+) CCCATA/GTACAT 4 -- us2k10--------
    rs1891238401,2
    		--30669733(+) CTAGCA/CCAACT 4 -- us2k10--------
    rs1507461501,2
    		--30670066(+) TTAAAC/GCAAGC 4 -- us2k10--------
    rs1817337851,2
    		--30670173(+) TTTCAA/GATCAT 4 -- us2k10--------
    rs1856110291,2
    		--30670362(+) TGGGTG/TACAAA 4 -- us2k10--------
    rs110951891,2
    		C,F,A,H,--30670658(+) ATCCGG/AGCAAG 4 -- us2k114Minor allele frequency- A:0.13NS EA NA WA CSA 1545

    HapMap Linkage Disequilibrium report for GK (30671476 - 30748725 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for GK
         1 CNV: 3265
    Human Gene Mutation Database (HGMD): GK

    Locus Specific Mutation Databases (LSDB): GK

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GK
    DNA2.0 Custom Variant and Variant Library Synthesis for GK

    Disorders / Diseases
    for GK gene

    (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
    GK for disorders           About GeneDecksing

    OMIM gene information: 300474   
    OMIM disorders: 307030  
    UniProtKB/Swiss-Prot: GLPK_HUMAN, P32189
  • Defects in GK are the cause of GK deficiency (GKD) [MIM:307030]. This disease can be either symptomatic with
    • episodic metabolic and CNS decompensation or asymptomatic with hyperglycerolemia and hyperglyceroluria only

    20/46 diseases for GK (see all 46):    About MalaCards
    glycerol kinase deficiency    red-green color blindness    x-linked adrenal hypoplasia congenita    complex glycerol kinase deficiency
    aland island eye disease    adrenal hypoplasia    muscular dystrophy    becker muscular dystrophy
    hemophagocytic lymphohistiocytosis    duchenne muscular dystrophy    precocious puberty    hyperglycerolemia
    color blindness    metaphyseal dysplasia    ocular albinism    eye disease
    addison's disease    developmental disabilities    insulin resistance    metabolic disorders

    1 disease from the University of Copenhagen DISEASES database for GK:
    Aland Island eye disease

    10/19 Novoseek disease relationships for GK gene (see all 19)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycerol kinase deficiency 99.2 115 8651297 (8), 10737976 (4), 12855219 (4), 16025401 (4) (see all 60)
    adrenal hypoplasia, congenital 94.1 15 7955386 (2), 2159212 (2), 2163974 (1), 19859888 (1) (see all 11)
    addisons disease 89.3 23 1601004 (2), 8314578 (2), 1999345 (2), 8033374 (2) (see all 19)
    muscular dystrophy duchenne 83.6 37 19078586 (2), 7955386 (2), 2159212 (2), 8033374 (2) (see all 30)
    albinism ocular 60.3 1 2159212 (1)
    muscular dystrophy becker 60.1 4 1395032 (1), 10757639 (1), 8240114 (1), 9447607 (1)
    enzyme deficiency 45.9 3 12855219 (1), 7512107 (1), 9302256 (1)
    eye diseases 43 4 2163974 (1), 8357005 (1), 2159212 (1)
    muscular dystrophies 41.9 4 8357005 (1), 1999345 (1), 9447607 (1)
    developmental delay 39.9 1 7512107 (1)

    Genatlas disease: GK
    hyperglycerolemia,pseudohypertriglyceridemia,sometimes presenting with hypoglycemia,ketoacidosis and recurrent
    convulsions in infancy

    Human Genome Epidemiology (HuGE) Navigator: GK (209 documents)

    Export disorders for GK gene to outside databases

    Publications
    for GK gene

    (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 GK gene, integrated from 9 sources (see all 151):
    (articles sorted by number of sources associating them with GK)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. The glycerol kinase gene family: structure of the Xp gene, and related intronless retroposons. (PubMed id 7987308)1, 2, 3 Sargent C.A....Affara N.A. (1994)
    2. Mutations and phenotype in isolated glycerol kinase deficiency. (PubMed id 8651297)1, 2, 9 Walker A.P.... Monaco A.P. (1996)
    3. Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency. (PubMed id 9719371)1, 2, 9 Sjarif D.R.... Poll-The B.T. (1998)
    4. Glycerol as a correlate of impaired glucose tolerance: dissection of a complex system by use of a simple genetic trait. (PubMed id 10736265)1, 2, 9 Gaudet D.... Rioux J.D. (2000)
    5. Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation. (PubMed id 10851254)1, 2, 9 Sargent C.A.... Affara N.A. (2000)
    6. Isolation of the human Xp21 glycerol kinase gene by positional cloning. (PubMed id 8499898)1, 2, 9 Walker A.P.... Monaco A.P. (1993)
    7. Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene. (PubMed id 8401584)1, 2, 9 Guo W....McCabe E.R.B. (1993)
    8. 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)
    9. Cloning of the X-linked glycerol kinase deficiency gene and its identification by sequence comparison to the Bacillus subtilis homologue. (PubMed id 8499912)1, 2 Sargent C.A....Ferguson-Smith M.A. (1993)
    10. Characterization of the human glycerol kinase promoter: identification of a functional HNF-4alpha binding site and evidence for transcriptional activation. (PubMed id 14654354)1, 9 Stepanian S.V....Dipple K.M. (2003)

    External Searches for GK gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing GK gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2710 HGNC: 4289 AceView: GK Ensembl:ENSG00000198814 euGenes: HUgn2710
    ECgene: GK Kegg: 2710 H-InvDB: GK

    Other Databases showing GK gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing GK gene

    (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 GK Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GK

    Intellectual Property
    for GK gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for GK gene:
    Search GeneIP for patents involving GK

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



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    About This Section

     
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