Gene Gene information from NCBI Gene database.
Entrez ID 3099
Gene name Hexokinase 2
Gene symbol HK2
Synonyms (NCBI Gene)
HKIIHXK2
Chromosome 2
Chromosome location 2p12
Summary 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. Expres
miRNA miRNA information provided by mirtarbase database.
585
miRTarBase ID miRNA Experiments Reference
MIRT006301 hsa-miR-143-3p Luciferase reporter assay 22354042
MIRT006301 hsa-miR-143-3p Luciferase reporter assay 22354042
MIRT006301 hsa-miR-143-3p Luciferase reporter assay 22354042
MIRT006301 hsa-miR-143-3p Luciferase reporter assay 22354042
MIRT006301 hsa-miR-143-3p Luciferase reporter assay 22354042
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SREBF1 Unknown 14747281
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
67
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001666 Process Response to hypoxia IEA
GO:0001678 Process Intracellular glucose homeostasis IBA
GO:0001678 Process Intracellular glucose homeostasis IEA
GO:0002931 Process Response to ischemia IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601125 4923 ENSG00000159399
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P52789
Protein name Hexokinase-2 (EC 2.7.1.1) (Hexokinase type II) (HK II) (Hexokinase-B) (Muscle form hexokinase)
Protein function Catalyzes the phosphorylation of hexose, such as D-glucose and D-fructose, to hexose 6-phosphate (D-glucose 6-phosphate and D-fructose 6-phosphate, respectively) (PubMed:23185017, PubMed:26985301, PubMed:29298880). Mediates the initial step of g
PDB 2NZT , 5HEX , 5HFU , 5HG1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00349 Hexokinase_1 21 219 Hexokinase Domain
PF03727 Hexokinase_2 225 459 Hexokinase Domain
PF00349 Hexokinase_1 469 667 Hexokinase Domain
PF03727 Hexokinase_2 673 907 Hexokinase Domain
Tissue specificity TISSUE SPECIFICITY: Predominant hexokinase isozyme expressed in insulin-responsive tissues such as skeletal muscle. {ECO:0000269|PubMed:8250948}.
Sequence
MIASHLLAYFFTELNHDQVQKVDQYLYHMRLSDETLLEISKRFRKEMEKGLGATTHPTAA
VKMLPTFVRSTPDGTEHGEFLALDLGGTNFRVLWVKVTDNGLQKVEMENQIYAIPEDIMR
GSGTQLFDHIAECLANFMDKLQIKDKKLPLGFTFSFPCHQTKLDESFLVSWTKGFKSSGV
EGRDVVALIRKAIQRRGDFDIDIVAVVNDTVGTMMTCGY
DDHNCEIGLIVGTGSNACYME
EMRHIDMVEGDEGRMCINMEWGAFGDDGSLNDIRTEFDQEIDMGSLNPGKQLFEKMISGM
YMGELVRLILVKMAKEELLFGGKLSPELLNTGRFETKDISDIEGEKDGIRKAREVLMRLG
LDPTQEDCVATHRICQIVSTRSASLCAATLAAVLQRIKENKGEERLRSTIGVDGSVYKKH
PHFAKRLHKTVRRLVPGCDVRFLRSEDGSGKGAAMVTAV
AYRLADQHRARQKTLEHLQLS
HDQLLEVKRRMKVEMERGLSKETHASAPVKMLPTYVCATPDGTEKGDFLALDLGGTNFRV
LLVRVRNGKWGGVEMHNKIYAIPQEVMHGTGDELFDHIVQCIADFLEYMGMKGVSLPLGF
TFSFPCQQNSLDESILLKWTKGFKASGCEGEDVVTLLKEAIHRREEFDLDVVAVVNDTVG
TMMTCGF
EDPHCEVGLIVGTGSNACYMEEMRNVELVEGEEGRMCVNMEWGAFGDNGCLDD
FRTEFDVAVDELSLNPGKQRFEKMISGMYLGEIVRNILIDFTKRGLLFRGRISERLKTRG
IFETKFLSQIESDCLALLQVRAILQHLGLESTCDDSIIVKEVCTVVARRAAQLCGAGMAA
VVDRIRENRGLDALKVTVGVDGTLYKLHPHFAKVMHETVKDLAPKCDVSFLQSEDGSGKG
AALITAV
ACRIREAGQR
Sequence length 917
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycolysis / Gluconeogenesis
Fructose and mannose metabolism
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
HIF-1 signaling pathway
Insulin signaling pathway
Type II diabetes mellitus
Carbohydrate digestion and absorption
Shigellosis
Central carbon metabolism in cancer
  Glycolysis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
25
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
HK2-related disorder Benign; Likely benign rs28363029, rs527677004, rs2229626, rs2229622, rs2229627, rs36066402, rs140362296, rs769749367, rs76319740, rs146408073, rs10194657, rs28363051, rs113781401, rs146476722, rs138918973
View all (10 more)
RCV003929600
RCV003981493
RCV003979667
RCV003979742
RCV003982401
RCV003904027
RCV003914170
RCV003914198
RCV003916980
RCV003916988
RCV003984532
RCV003947344
RCV003959698
RCV003964047
RCV003924579
RCV003907390
RCV003971389
RCV003934143
RCV003942290
RCV003979244
RCV003976797
RCV003971564
RCV003971485
RCV003976665
RCV003916207
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 15967114
Adenocarcinoma of Lung Associate 28423489, 31186081, 35379058, 36320008, 36960858
Anophthalmia with pulmonary hypoplasia Associate 32633891
Arthritis Rheumatoid Stimulate 34160468
Arthritis Rheumatoid Associate 35720293
Atypical Squamous Cells of the Cervix Associate 26097593
Brain Neoplasms Stimulate 19723875
Brain Neoplasms Associate 32372141
Breast Neoplasms Associate 10646889, 16595493, 17317033, 23598413, 23869589, 25926654, 32020848, 35260660, 35328104, 36335239, 36913368, 37377974
Breast Neoplasms Stimulate 19723875