Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3795
Gene name	Ketohexokinase
Gene symbol	KHK
Synonyms (NCBI Gene)	FRUCTU
Chromosome	2
Chromosome location	2p23.3
Summary	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 d

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893643	G>A,C	Affects	Coding sequence variant, intron variant, missense variant
rs104893644	G>A	Affects	Coding sequence variant, intron variant, missense variant

Show/Hide all (34)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019807	hsa-miR-375	Microarray	20215506
MIRT029406	hsa-miR-26b-5p	Microarray	19088304
MIRT1085251	hsa-miR-3667-5p	CLIP-seq
MIRT1085252	hsa-miR-4762-5p	CLIP-seq
MIRT1085253	hsa-miR-1207-5p	CLIP-seq
MIRT1085254	hsa-miR-138	CLIP-seq
MIRT1085255	hsa-miR-1913	CLIP-seq
MIRT1085256	hsa-miR-193a-3p	CLIP-seq
MIRT1085257	hsa-miR-193b	CLIP-seq
MIRT1085258	hsa-miR-2467-3p	CLIP-seq
MIRT1085259	hsa-miR-3176	CLIP-seq
MIRT1085260	hsa-miR-3197	CLIP-seq
MIRT1085261	hsa-miR-324-3p	CLIP-seq
MIRT1085262	hsa-miR-3922-3p	CLIP-seq
MIRT1085263	hsa-miR-4286	CLIP-seq
MIRT1085264	hsa-miR-4313	CLIP-seq
MIRT1085265	hsa-miR-4436b-3p	CLIP-seq
MIRT1085266	hsa-miR-4438	CLIP-seq
MIRT1085267	hsa-miR-4456	CLIP-seq
MIRT1085268	hsa-miR-4695-5p	CLIP-seq
MIRT1085252	hsa-miR-4762-5p	CLIP-seq
MIRT1085269	hsa-miR-4763-3p	CLIP-seq
MIRT1085270	hsa-miR-513a-5p	CLIP-seq
MIRT1085271	hsa-miR-541	CLIP-seq
MIRT1085272	hsa-miR-654-5p	CLIP-seq
MIRT2021734	hsa-miR-1321	CLIP-seq
MIRT2021735	hsa-miR-4419a	CLIP-seq
MIRT2021736	hsa-miR-4486	CLIP-seq
MIRT2021737	hsa-miR-4510	CLIP-seq
MIRT2021738	hsa-miR-4739	CLIP-seq
MIRT2021739	hsa-miR-4756-5p	CLIP-seq
MIRT2021740	hsa-miR-583	CLIP-seq
MIRT2253271	hsa-miR-1304	CLIP-seq
MIRT2253272	hsa-miR-1827	CLIP-seq

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004454	Function	Ketohexokinase activity	IBA
GO:0004454	Function	Ketohexokinase activity	IDA	12941785, 22371574
GO:0004454	Function	Ketohexokinase activity	IEA
GO:0004454	Function	Ketohexokinase activity	TAS	7833921
GO:0005515	Function	Protein binding	IPI	25416956, 25910212, 27088854, 32296183
GO:0005524	Function	ATP binding	IDA	19237742
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006000	Process	Fructose metabolic process	IBA
GO:0006000	Process	Fructose metabolic process	IDA	12941785
GO:0006000	Process	Fructose metabolic process	IEA
GO:0009744	Process	Response to sucrose	IBA
GO:0009749	Process	Response to glucose	IBA
GO:0009750	Process	Response to fructose	IBA
GO:0010043	Process	Response to zinc ion	IBA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0032868	Process	Response to insulin	IBA
GO:0042802	Function	Identical protein binding	IDA	19237742
GO:0042803	Function	Protein homodimerization activity	IDA	19237742
GO:0046835	Process	Carbohydrate phosphorylation	IEA
GO:0070061	Function	Fructose binding	IDA	19237742
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070873	Process	Regulation of glycogen metabolic process	IBA

MIM	HGNC	e!Ensembl
614058	6315	ENSG00000138030

P50053

Protein name

Ketohexokinase (EC 2.7.1.3) (Hepatic fructokinase)

Protein function

Catalyzes the phosphorylation of the ketose sugar fructose to fructose-1-phosphate.

PDB

2HLZ , 2HQQ , 2HW1 , 3B3L , 3NBV , 3NBW , 3NC2 , 3NC9 , 3NCA , 3Q92 , 3QA2 , 3QAI , 3RO4 , 5WBM , 5WBO , 5WBP , 5WBQ , 5WBR , 5WBZ , 6UL7 , 6W0N , 6W0W , 6W0X , 6W0Y , 6W0Z , 8OME , 8OMF , 8OMJ , 8OMK , 8UG1 , 8UG3 , 9FHD , 9FHE

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00294	PfkB	3 → 294	pfkB family carbohydrate kinase	Family

Tissue specificity

TISSUE SPECIFICITY: Most abundant in liver, kidney, gut, spleen and pancreas. Low levels also found in adrenal, muscle, brain and eye. {ECO:0000269|PubMed:9799106}.

Sequence

MEEKQILCVGLVVLDVISLVDKYPKEDSEIRCLSQRWQRGGNASNSCTVLSLLGAPCAFM
GSMAPGHVADFLVADFRRRGVDVSQVAWQSKGDTPSSCCIINNSNGNRTIVLHDTSLPDV
SATDFEKVDLTQFKWIHIEGRNASEQVKMLQRIDAHNTRQPPEQKIRVSVEVEKPREELF
QLFGYGDVVFVSKDVAKHLGFQSAEEALRGLYGRVRKGAVLVCAWAEEGADALGPDGKLL
HSDAFPPPRVVDTLGAGDTFNASVIFSLSQGRSVQEALRFGCQVAGKKCGLQGFDGIV

Sequence length

298

Interactions

View interactions

	KEGG		Reactome
	Fructose and mannose metabolism Metabolic pathways		Essential fructosuria Fructose catabolism

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Essential fructosuria	Pathogenic	rs104893644	RCV000012812	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEFICIENCY OF FRUCTOKINASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KHK-related disorder	Likely benign; Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (32)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Asthenozoospermia	Asthenozoospermia	BEFREE	31808565		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29449409	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	15953868	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	16372272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	16372272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deficiency of fructokinase	Deficiency Of Fructokinase	BEFREE	12941785, 29664676, 29870677, 7833921		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deficiency of fructokinase	Deficiency Of Fructokinase	UNIPROT_DG	12941785, 7833921		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deficiency of fructokinase	Deficiency Of Fructokinase	CTD_human_DG	18035330, 7833921		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deficiency of fructokinase	Deficiency Of Fructokinase	ORPHANET_DG	19237742, 7833921		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deficiency of fructokinase	Deficiency Of Fructokinase	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	29604362		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	39465767	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential fructosuria	Fructosuria	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fatty Liver	Fatty Liver	BEFREE	23112875, 28972537, 29507217		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fructosuria	Fructosuria	Pubtator	19237742, 33621267	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30031605		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	26083752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary fructose intolerance syndrome	Hereditary fructosuria	BEFREE	29533924		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	31487794		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	29533924		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28194018		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27088854, 31032410		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	30031605		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16372272, 30031605		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	28853885		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16372272, 30031605		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31750240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29507217		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	36194576	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	16372272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	16372272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	23112875, 28972537, 29507217		★★★★★ ★☆☆☆☆ Found in Text Mining only

KHK (ketohexokinase)