KHK (ketohexokinase)

2007-02-01  

Identity

HGNC
LOCATION
2p23.3
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 3795
MIM: 614058
HGNC: 6315
Ensembl: ENSG00000138030

Variants:

dbSNP: 3795
ClinVar: 3795
TCGA: ENSG00000138030
COSMIC: KHK

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138030ENST00000260598P50053
ENSG00000138030ENST00000260599P50053
ENSG00000138030ENST00000260599A0A140VJM6
ENSG00000138030ENST00000429697C9JDL1

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Fructose and mannose metabolismKEGGko00051
Fructose and mannose metabolismKEGGhsa00051
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Fructose metabolismREACTOMER-HSA-5652084
Fructose catabolismREACTOMER-HSA-70350

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA449716fructoseChemicalPathwayassociated24915143

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
191583512009Ketohexokinase-dependent metabolism of fructose induces proinflammatory mediators in proximal tubular cells.82
231128752012Uric acid stimulates fructokinase and accelerates fructose metabolism in the development of fatty liver.71
260837522015HIF-driven SF3B1 induces KHK-C to enforce fructolysis and heart disease.43
248761142014Endogenous fructose production and fructokinase activation mediate renal injury in diabetic nephropathy.42
270888542016A splicing switch from ketohexokinase-C to ketohexokinase-A drives hepatocellular carcinoma formation.41
129417852003Properties of normal and mutant recombinant human ketohexokinases and implications for the pathogenesis of essential fructosuria.27
289547332017Genome-Wide CRISPR Screen for Essential Cell Growth Mediators in Mutant KRAS Colorectal Cancers.20
192377422009Structures of alternatively spliced isoforms of human ketohexokinase.13
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11

Citation

Dessen P

KHK (ketohexokinase)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46273/khk