Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2645
Gene name Gene Name - the full gene name approved by the HGNC.
Glucokinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GCK
Synonyms (NCBI Gene) Gene synonyms aliases
FGQTL3, GK, GLK, HHF3, HK4, HKIV, HXKP, LGLK, MODY2, PNDM1
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p13
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the hexokinase family of proteins. Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. In contrast to other forms of hexokinase, this enzyme is not inhibited b
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs77440690 C>T Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign Intron variant, genic upstream transcript variant
rs104894010 A>G Pathogenic Missense variant, coding sequence variant, genic upstream transcript variant
rs104894012 C>T Pathogenic Missense variant, coding sequence variant
rs104894014 G>A Pathogenic Missense variant, coding sequence variant
rs104894016 C>G,T Pathogenic Missense variant, coding sequence variant, 5 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018730 hsa-miR-335-5p Microarray 18185580
MIRT721960 hsa-miR-4524b-3p HITS-CLIP 19536157
MIRT496313 hsa-miR-6733-3p HITS-CLIP 19536157
MIRT721959 hsa-miR-6072 HITS-CLIP 19536157
MIRT721958 hsa-miR-6891-3p HITS-CLIP 19536157
Transcription factors
Transcription factor Regulation Reference
HIF1A Unknown 14612449
HNF4A Unknown 14612449
PDX1 Activation 8866550
USF1 Activation 9677331
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001678 Process Intracellular glucose homeostasis IBA
GO:0001678 Process Intracellular glucose homeostasis IEA
GO:0001678 Process Intracellular glucose homeostasis IEA
GO:0003824 Function Catalytic activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
138079 4195 ENSG00000106633
Protein
UniProt ID P35557
Protein name Hexokinase-4 (HK4) (EC 2.7.1.1) (Glucokinase) (Hexokinase type IV) (HK IV) (Hexokinase-D)
Protein function Catalyzes the phosphorylation of hexose, such as D-glucose, D-fructose and D-mannose, to hexose 6-phosphate (D-glucose 6-phosphate, D-fructose 6-phosphate and D-mannose 6-phosphate, respectively) (PubMed:11916951, PubMed:15277402, PubMed:1708218
PDB 1V4S , 1V4T , 3A0I , 3F9M , 3FGU , 3FR0 , 3GOI , 3H1V , 3ID8 , 3IDH , 3IMX , 3QIC , 3S41 , 3VEV , 3VEY , 3VF6 , 4DCH , 4DHY , 4ISE , 4ISF , 4ISG , 4IWV , 4IXC , 4L3Q , 4LC9 , 4MLE , 4MLH , 4NO7 , 4RCH , 5V4W , 5V4X , 6E0E , 6E0I , 7T78 , 7T79
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00349 Hexokinase_1 15 215 Hexokinase Domain
PF03727 Hexokinase_2 221 455 Hexokinase Domain
Sequence
Sequence length 465
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Glycolysis / Gluconeogenesis
Galactose metabolism
Starch and sucrose metabolism
Amino sugar and nucleotide sugar metabolism
Neomycin, kanamycin and gentamicin biosynthesis
Metabolic pathways
Carbon metabolism
Biosynthesis of nucleotide sugars
Insulin signaling pathway
Insulin secretion
Prolactin signaling pathway
Glucagon signaling pathway
Type II diabetes mellitus
Maturity onset diabetes of the young
Central carbon metabolism in cancer
  Regulation of Glucokinase by Glucokinase Regulatory Protein
Defective GCK causes maturity-onset diabetes of the young 2 (MODY2)
Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
Glycolysis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Diabetes Mellitus Maturity-onset diabetes of the young type 2, Gestational diabetes, permanent neonatal diabetes mellitus, Type 2 diabetes mellitus, Maturity-onset diabetes of the young type 3, diabetes mellitus rs193922259, rs1415041911, rs193922275, rs777870079, rs1554334872, rs1057524904, rs587780346, rs80356654, rs148311934, rs1375656631, rs193922282, rs886042610, rs193922300, rs193921338, rs193922340
View all (102 more)
N/A
Hyperinsulinism hyperinsulinism due to glucokinase deficiency rs80356655, rs104894014, rs104894015, rs1350717554, rs104894010, rs1400535021, rs104894012 N/A
Mason type diabetes maturity onset diabetes mellitus in young rs193922340, rs1131691483, rs1562717053, rs1554335132, rs1583601365, rs1554335752, rs1064796410, rs193922330, rs193922259, rs1554335441, rs193922275, rs1583590393, rs1554334872, rs1057524904, rs193922264
View all (82 more)
N/A
Monogenic Diabetes monogenic diabetes rs193922340, rs193922313, rs1583590393, rs193922264, rs193922289, rs556581174, rs794727839, rs1554335966, rs193929375, rs777870079, rs1057520109, rs1562718043, rs587780346, rs1554335132, rs1375656631
View all (93 more)
N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Gout Gout N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
6q24 Related Transient Neonatal Diabetes Mellitus Associate 25015100
Acute Coronary Syndrome Associate 31605429
Acute Kidney Injury Associate 39696008
Adenocarcinoma Stimulate 38082365
Anodontia Associate 27197745
Beckwith Wiedemann Syndrome Associate 39382384
Carbohydrate Metabolism Inborn Errors Associate 1502186
Carcinoma Hepatocellular Associate 33594203, 33920410, 39215018
Cardiovascular Diseases Associate 36151532
Cataract Associate 34385667