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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 Show/Hide all (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 Show/Hide all (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
PF00349 Hexokinase_1 469 → 667 Hexokinase Domain
PF03727 Hexokinase_2 673 → 907 Hexokinase Domain
PF03727 Hexokinase_2 225 → 459 Hexokinase Domain
Tissue specificity TISSUE SPECIFICITY: Predominant hexokinase isozyme expressed in insulin-responsive tissues such as skeletal muscle. {ECO:0000269|PubMed:8250948}.
Sequence
Sequence length 917
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Glycolysis / Gluconeogenesis Glycolysis
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  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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)
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.
Show/Hide Unknown Diseases (8)
Phenotype Name Clinical Significance Source Reference Evidence Score
CENTRAL NERVOUS SYSTEM CANCER — GWAS catalog 36810956
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME — GWAS catalog 36810956
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOMA — GWAS catalog 36810956
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HK2-related disorder Benign; Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations