Human Gene HK2 (ENST00000290573.7) from GENCODE V44
  Description: Homo sapiens hexokinase 2 (HK2), transcript variant 1, mRNA. (from RefSeq NM_000189)
RefSeq Summary (NM_000189): 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.
Gencode Transcript: ENST00000290573.7
Gencode Gene: ENSG00000159399.10
Transcript (Including UTRs)
   Position: hg38 chr2:74,834,127-74,893,359 Size: 59,233 Total Exon Count: 18 Strand: +
Coding Region
   Position: hg38 chr2:74,834,581-74,890,941 Size: 56,361 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:74,834,127-74,893,359)mRNA (may differ from genome)Protein (917 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: HXK2_HUMAN
DESCRIPTION: RecName: Full=Hexokinase-2; EC=2.7.1.1; AltName: Full=Hexokinase type II; Short=HK II; AltName: Full=Muscle form hexokinase;
CATALYTIC ACTIVITY: ATP + D-hexose = ADP + D-hexose 6-phosphate.
ENZYME REGULATION: Hexokinase is an allosteric enzyme inhibited by its product Glc-6-P.
PATHWAY: Carbohydrate metabolism; hexose metabolism.
SUBUNIT: Monomer (By similarity).
SUBCELLULAR LOCATION: Mitochondrion outer membrane (By similarity). Note=Its hydrophobic N-terminal sequence may be involved in membrane binding (By similarity).
TISSUE SPECIFICITY: Predominant hexokinase isozyme expressed in insulin-responsive tissues such as skeletal muscle.
DOMAIN: The N- and C-terminal halves of this hexokinase show extensive sequence similarity to each other. The catalytic activity is associated with the C-terminus while regulatory function is associated with the N-terminus. Each domain can bind a single glucose and Gluc-6-P molecule.
POLYMORPHISM: Although found in NIDDM patients, genetic variations of HK2 do not contribute to the disease.
MISCELLANEOUS: In vertebrates there are four major glucose- phosphorylating isoenzymes, designated hexokinase I, II, III and IV (glucokinase).
SIMILARITY: Belongs to the hexokinase family.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/hk2/";
WEB RESOURCE: Name=Wikipedia; Note=Hexokinase entry; URL="http://en.wikipedia.org/wiki/Hexokinase";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: HK2
Diseases sorted by gene-association score: pediatric osteosarcoma (11), chondroblastoma (9), diabetes mellitus, noninsulin-dependent (2), hepatocellular carcinoma (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 32.17 RPKM in Testis
Total median expression: 326.39 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -175.80454-0.387 Picture PostScript Text
3' UTR -685.402418-0.283 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001312 - Hexokinase
IPR022673 - Hexokinase_C
IPR019807 - Hexokinase_CS
IPR022672 - Hexokinase_N

Pfam Domains:
PF00349 - Hexokinase
PF03727 - Hexokinase

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2NZT - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P52789
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsemblWormBase 
Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence 
AlignmentAlignmentAlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003824 catalytic activity
GO:0004340 glucokinase activity
GO:0004396 hexokinase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0005536 glucose binding
GO:0008865 fructokinase activity
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0016773 phosphotransferase activity, alcohol group as acceptor
GO:0019158 mannokinase activity

Biological Process:
GO:0001678 cellular glucose homeostasis
GO:0002931 response to ischemia
GO:0005975 carbohydrate metabolic process
GO:0006006 glucose metabolic process
GO:0006096 glycolytic process
GO:0007595 lactation
GO:0008152 metabolic process
GO:0008637 apoptotic mitochondrial changes
GO:0016310 phosphorylation
GO:0019318 hexose metabolic process
GO:0035795 negative regulation of mitochondrial membrane permeability
GO:0045766 positive regulation of angiogenesis
GO:0046324 regulation of glucose import
GO:0046835 carbohydrate phosphorylation
GO:0051156 glucose 6-phosphate metabolic process
GO:0061621 canonical glycolysis
GO:0072655 establishment of protein localization to mitochondrion
GO:0072656 maintenance of protein location in mitochondrion
GO:1904925 positive regulation of mitophagy in response to mitochondrial depolarization
GO:1990830 cellular response to leukemia inhibitory factor
GO:2000378 negative regulation of reactive oxygen species metabolic process

Cellular Component:
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0005829 cytosol
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  AF148513 - Homo sapiens hexokinase II (HKII) mRNA, complete cds.
BC021116 - Homo sapiens hexokinase 2, mRNA (cDNA clone MGC:31922 IMAGE:4652321), complete cds.
BC064369 - Homo sapiens hexokinase 2, mRNA (cDNA clone MGC:74789 IMAGE:5586773), complete cds.
AK290357 - Homo sapiens cDNA FLJ75392 complete cds, highly similar to Homo sapiens hexokinase II (HKII) mRNA.
Z46376 - H.sapiens HK2 mRNA for hexokinase II.
KJ905210 - Synthetic construct Homo sapiens clone ccsbBroadEn_14666 HK2 gene, encodes complete protein.
KJ905211 - Synthetic construct Homo sapiens clone ccsbBroadEn_14667 HK2 gene, encodes complete protein.
CU676834 - Synthetic construct Homo sapiens gateway clone IMAGE:100020478 5' read HK2 mRNA.
AB384729 - Synthetic construct DNA, clone: pF1KB3030, Homo sapiens HK2 gene for hexokinase-2, complete cds, without stop codon, in Flexi system.
DQ895770 - Synthetic construct Homo sapiens clone IMAGE:100010230; FLH187475.01L; RZPDo839H0962D hexokinase 2 (HK2) gene, encodes complete protein.
EU176361 - Synthetic construct Homo sapiens clone IMAGE:100006467; FLH187482.01X; RZPDo839B11251D hexokinase 2 (HK2) gene, encodes complete protein.
CR749202 - Homo sapiens mRNA; cDNA DKFZp686M1669 (from clone DKFZp686M1669).
JD191840 - Sequence 172864 from Patent EP1572962.
JD391741 - Sequence 372765 from Patent EP1572962.
JD464423 - Sequence 445447 from Patent EP1572962.
JD294745 - Sequence 275769 from Patent EP1572962.
JD314045 - Sequence 295069 from Patent EP1572962.
JD543810 - Sequence 524834 from Patent EP1572962.
DQ580534 - Homo sapiens piRNA piR-48646, complete sequence.
JD282917 - Sequence 263941 from Patent EP1572962.
JD532785 - Sequence 513809 from Patent EP1572962.
JD394790 - Sequence 375814 from Patent EP1572962.
JD087273 - Sequence 68297 from Patent EP1572962.
JD180858 - Sequence 161882 from Patent EP1572962.
JD159326 - Sequence 140350 from Patent EP1572962.
JD423897 - Sequence 404921 from Patent EP1572962.
JD279056 - Sequence 260080 from Patent EP1572962.
JD249499 - Sequence 230523 from Patent EP1572962.
JD203432 - Sequence 184456 from Patent EP1572962.
JD555758 - Sequence 536782 from Patent EP1572962.
JD454672 - Sequence 435696 from Patent EP1572962.
JD170498 - Sequence 151522 from Patent EP1572962.
JD092910 - Sequence 73934 from Patent EP1572962.
JD561875 - Sequence 542899 from Patent EP1572962.
JD103387 - Sequence 84411 from Patent EP1572962.
JD058389 - Sequence 39413 from Patent EP1572962.
JD144448 - Sequence 125472 from Patent EP1572962.
JD498661 - Sequence 479685 from Patent EP1572962.
JD390778 - Sequence 371802 from Patent EP1572962.
JD376262 - Sequence 357286 from Patent EP1572962.
JD332569 - Sequence 313593 from Patent EP1572962.
JD080599 - Sequence 61623 from Patent EP1572962.
JD498101 - Sequence 479125 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00010 - Glycolysis / Gluconeogenesis
hsa00051 - Fructose and mannose metabolism
hsa00052 - Galactose metabolism
hsa00500 - Starch and sucrose metabolism
hsa00520 - Amino sugar and nucleotide sugar metabolism
hsa00524 - Butirosin and neomycin biosynthesis
hsa01100 - Metabolic pathways
hsa04910 - Insulin signaling pathway
hsa04930 - Type II diabetes mellitus

BioCyc Knowledge Library
PWY-5514 - UDP-N-acetyl-D-galactosamine biosynthesis II
PWY-5661-1 - GDP-glucose biosynthesis II
PWY-5941 - glycogenolysis
PWY0-1182 - trehalose degradation
PWY66-400 - glycolysis
PWY66-407 - superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle
UDPNACETYLGALSYN-PWY - UDP-N-acetyl-D-glucosamine biosynthesis II

Reactome (by CSHL, EBI, and GO)

Protein P52789 (Reactome details) participates in the following event(s):

R-HSA-70420 HK1,2,3,GCK phosphorylate Glc to form G6P
R-HSA-70171 Glycolysis
R-HSA-70326 Glucose metabolism
R-HSA-71387 Metabolism of carbohydrates
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: D6W5J2, ENST00000290573.1, ENST00000290573.2, ENST00000290573.3, ENST00000290573.4, ENST00000290573.5, ENST00000290573.6, HXK2_HUMAN, NM_000189, P52789, Q8WU87, Q9UN82, uc002snd.1, uc002snd.2, uc002snd.3, uc002snd.4, uc002snd.5
UCSC ID: ENST00000290573.7
RefSeq Accession: NM_000189
Protein: P52789 (aka HXK2_HUMAN)
CCDS: CCDS1956.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.