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Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 2, the predominant form found in skeletal muscle. It localizes to the outer membrane of mitochondria. Expression of this gene is insulin-responsive, and studies in rat suggest that it is involved in the increased rate of glycolysis seen in rapidly growing cancer cells. [provided by RefSeq, Apr 2009]
HK2 (Hexokinase 2) is a Protein Coding gene. Diseases associated with HK2 include Pediatric Osteosarcoma and Chondroblastoma. Among its related pathways are Galactose metabolism and Central carbon metabolism in cancer. Gene Ontology (GO) annotations related to this gene include phosphotransferase activity, alcohol group as acceptor and fructokinase activity. An important paralog of this gene is HK1.
Hexokinases catalyze the first essential step of glucose metabolism, the conversion of the substrate glucose into glucose-6-phosphate. This phosphorylation event directly couples extramitochondrial glycolysis to intramitochondrial oxidative phosphorylation.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003824 | catalytic activity | IEA | -- |
GO:0004340 | glucokinase activity | IEA,IDA | 29298880 |
GO:0004396 | hexokinase activity | IEA,IDA | 26985301 |
GO:0005515 | protein binding | IPI | 16189514 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005739 | mitochondrion | IDA | -- |
GO:0005741 | mitochondrial outer membrane | IDA | 18350175 |
GO:0005813 | centrosome | IDA | -- |
GO:0005829 | cytosol | IDA,TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Galactose metabolism |
Galactose metabolism
.38
|
Glycogen metabolism
.01
|
2 | Glucose metabolism |
Glycolysis and gluconeogenesis (short map)
.58
.52
|
|
3 | Metabolism |
.40
|
|
4 | Hexose transport |
.85
|
|
5 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001666 | response to hypoxia | IEA | -- |
GO:0001678 | cellular glucose homeostasis | IEA,IBA | 21873635 |
GO:0002931 | response to ischemia | IEA | -- |
GO:0005975 | carbohydrate metabolic process | IEA | -- |
GO:0006002 | fructose 6-phosphate metabolic process | IEA,ISS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
D-glucose | Approved, Experimental, Investigational, Vet_approved | Pharma | 0 | |||
Glucosamine | Approved, Investigational | Pharma | 98 | |||
Sorbitol | Approved | Pharma | 71 | |||
Glucose 6-phosphate | Experimental | Pharma | 0 | |||
beta-D-glucose 6-phosphate | Experimental | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
58-64-0 |
|
|||
alpha-D-Glucose |
|
492-62-6 |
|
|||
Beta-D-Fructose 6-phosphate |
|
|
||||
dADP |
|
2793-06-8 |
|
|||
D-Fructose |
|
53188-23-1 |
|
Compound | Action | Cas Number |
---|---|---|
2-Deoxy-D-glucose | Non-metabolizable glucose analog; hexokinase substrate | 154-17-6 |
AM 2394 | Potent glucokinase activator; orally bioavailable | 1442684-77-6 |
GKA 50 | Glucokinase activator | 851884-87-2 |
Lonidamine | Mitochondrial hexokinase inhibitor | 50264-69-2 |
Compound | Action | Cas Number |
---|---|---|
Lonidamine | 50264-69-2 |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HK2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | HK2 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | HK2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | HK2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Hk2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Hk2 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | HK2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | HK2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | HK2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100485269 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | hk2 30 31 |
|
OneToOne | |
Dr.10553 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Hex-C 31 32 |
|
ManyToMany | |
Hex-A 31 32 |
|
ManyToMany | |||
Hex-t2 31 32 |
|
ManyToMany | |||
Hex-t1 32 |
|
|
|||
Worm (Caenorhabditis elegans) |
Secernentea | F14B4.2 30 31 32 |
|
OneToMany | |
H25P06.1 32 |
|
|
|||
Y77E11A.1 32 |
|
|
|||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GLK1 31 |
|
ManyToMany | |
HXK1 31 |
|
ManyToMany | |||
HXK2 31 |
|
ManyToMany | |||
EMI2 31 |
|
ManyToMany | |||
Rice (Oryza sativa) |
Liliopsida | Os01g0190400 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.11095 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1441586434 | Likely Benign: not provided | 74,867,791(+) |
C/A NM_000189.5(HK2):c.375+7C>A |
INTRON | |
rs28363014 | Benign: not provided | 74,877,202(+) |
G/A NM_000189.5(HK2):c.912G>A (p.Glu304=) |
SYNONYMOUS | |
rs28363033 | Benign: not provided | 74,880,544(+) |
C/T NM_000189.5(HK2):c.1545C>T (p.Tyr515=) |
SYNONYMOUS | |
rs765479895 | Likely Benign: not provided | 74,878,832(+) |
C/T NM_000189.5(HK2):c.1176C>T (p.Ala392=) |
SYNONYMOUS | |
rs145124653 | - |
p.Arg497Gln |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3871n100 | CNV | gain | 25217958 |
esv2659874 | CNV | deletion | 23128226 |
esv2677814 | CNV | deletion | 23128226 |
esv2751900 | CNV | gain | 17911159 |
esv2760619 | CNV | loss | 21179565 |
esv3591289 | CNV | loss | 21293372 |
esv3591291 | CNV | loss | 21293372 |
nsv1001495 | CNV | gain | 25217958 |
nsv1109262 | CNV | deletion | 24896259 |
nsv1138786 | CNV | deletion | 24896259 |
nsv518615 | CNV | gain | 19592680 |
nsv519007 | CNV | loss | 19592680 |
nsv582217 | CNV | gain | 21841781 |
nsv829465 | CNV | loss | 20364138 |
nsv998325 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
pediatric osteosarcoma |
|
|
chondroblastoma |
|
|
diabetes mellitus |
|
|
type 2 diabetes mellitus |
|
|
maturity-onset diabetes of the young |
|
|