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 s... See more...

Aliases for HK2 Gene

Aliases for HK2 Gene

  • Hexokinase 2 2 3 5
  • Muscle Form Hexokinase 3 4
  • Hexokinase Type II 3 4
  • Hexokinase-2 3 4
  • Hexokinase-B 3 4
  • EC 2.7.1.1 4 52
  • Hexokinase-2, Muscle 3
  • EC 2.7.1 52
  • HK II 4
  • HKII 3
  • HXK2 3

External Ids for HK2 Gene

Previous GeneCards Identifiers for HK2 Gene

  • GC02P075198
  • GC02P075018
  • GC02P075035
  • GC02P075034
  • GC02P074971
  • GC02P074796
  • GC02P075059

Summaries for HK2 Gene

Entrez Gene Summary for HK2 Gene

  • 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]

GeneCards Summary for HK2 Gene

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 Hexose transport. 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.

UniProtKB/Swiss-Prot Summary for HK2 Gene

  • 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 glycolysis by catalyzing phosphorylation of D-glucose to D-glucose 6-phosphate (PubMed:29298880). Plays a key role in maintaining the integrity of the outer mitochondrial membrane by preventing the release of apoptogenic molecules from the intermembrane space and subsequent apoptosis (PubMed:18350175).

Tocris Summary for HK2 Gene

  • 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.

Gene Wiki entry for HK2 Gene

Additional gene information for HK2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HK2 Gene

Genomics for HK2 Gene

GeneHancer (GH) Regulatory Elements for HK2 Gene

Promoters and enhancers for HK2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HK2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HK2

Top Transcription factor binding sites by QIAGEN in the HK2 gene promoter:
  • AML1a
  • Bach2
  • Evi-1
  • HOXA3
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a
  • Sox5
  • Zic1

Genomic Locations for HK2 Gene

Genomic Locations for HK2 Gene
chr2:74,832,655-74,893,359
(GRCh38/hg38)
Size:
60,705 bases
Orientation:
Plus strand
chr2:75,059,782-75,120,486
(GRCh37/hg19)
Size:
60,705 bases
Orientation:
Plus strand

Genomic View for HK2 Gene

Genes around HK2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HK2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HK2 Gene

Proteins for HK2 Gene

  • Protein details for HK2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P52789-HXK2_HUMAN
    Recommended name:
    Hexokinase-2
    Protein Accession:
    P52789
    Secondary Accessions:
    • D6W5J2
    • Q8WU87
    • Q9UN82

    Protein attributes for HK2 Gene

    Size:
    917 amino acids
    Molecular mass:
    102380 Da
    Quaternary structure:
    • Monomer (By similarity). Interacts with TIGAR; the interaction increases hexokinase activity in a hypoxia- and HIF1A-dependent manner (PubMed:23185017).

    Three dimensional structures from OCA and Proteopedia for HK2 Gene

neXtProt entry for HK2 Gene

Selected DME Specific Peptides for HK2 Gene

P52789:
  • DIRTEFD
  • MRLSDETL
  • PDGTEKG
  • EWGAFGD
  • TMMTCGY
  • GFTFSFP
  • QVQKVDQ
  • RIKENKGEERLRSTIGVDGSVYKKHPHFAKRL
  • CQIVSTRSASLCAATLAAVL
  • RAAQLCGAG
  • DPTQEDCVATHR
  • IKDKKLP
  • LYHMRLSD
  • LIRKAIQRRGDFDIDIVA
  • GVDGSVYK
  • TGRFETKD
  • CGAGMAA
  • GFTFSFPC
  • NACYMEE
  • ATTHPTA
  • DGSGKGAA
  • LDLGGTNFRV
  • AMVTAVA
  • SILLKWTKGFKASGCEGEDVVTLLKEAI
  • VNDTVGTMM
  • VGVDGTLYKLHP
  • TRGIFETKFLSQIESD
  • YLGEIVRNILIDFTK
  • GLIVGTG
  • SLNPGKQ
  • EGRMCVN
  • QTKLDESFLVSWTKGFKS
  • GELVRLIL
  • HLGLESTC
  • VEMHNKIY
  • LPLGFTFS
  • NMEWGAFGDNGC
  • MCINMEWGAFGD
  • GSGTQLFDH
  • RICQIVS
  • ALDLGGTN
  • ELFDHIVQCIADFL
  • AVDELSLN
  • VKMLPTFVR
  • GKLSPELL
  • SGMYLGEI
  • GLSKETHA

Post-translational modifications for HK2 Gene

  • Ubiquitination at Lys41, Lys62, Lys173, Lys323, Lys488, and Lys899
  • Modification sites at PhosphoSitePlus

Other Protein References for HK2 Gene

Domains & Families for HK2 Gene

Gene Families for HK2 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for HK2 Gene

Blocks:
  • Hexokinase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HK2 Gene

GenScript: Design optimal peptide antigens:
  • Muscle form hexokinase (HXK2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P52789

UniProtKB/Swiss-Prot:

HXK2_HUMAN :
  • The N- and C-terminal halves of the protein contain a hexokinase domain (PubMed:29298880). In contrast to hexokinase-1 and -3 (HK1 and HK3, respectively), both hexokinase domains display catalytic activity (PubMed:29298880). The region connecting the two hexokinase domains is required for the catalytic activity of the N-terminal hexokinase domain (PubMed:29298880). The N-terminal half regulates stability of the whole enzyme (PubMed:29298880).
  • Belongs to the hexokinase family.
Domain:
  • The N- and C-terminal halves of the protein contain a hexokinase domain (PubMed:29298880). In contrast to hexokinase-1 and -3 (HK1 and HK3, respectively), both hexokinase domains display catalytic activity (PubMed:29298880). The region connecting the two hexokinase domains is required for the catalytic activity of the N-terminal hexokinase domain (PubMed:29298880). The N-terminal half regulates stability of the whole enzyme (PubMed:29298880).
Family:
  • Belongs to the hexokinase family.
genes like me logo Genes that share domains with HK2: view

Function for HK2 Gene

Molecular function for HK2 Gene

UniProtKB/Swiss-Prot 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 glycolysis by catalyzing phosphorylation of D-glucose to D-glucose 6-phosphate (PubMed:29298880). Plays a key role in maintaining the integrity of the outer mitochondrial membrane by preventing the release of apoptogenic molecules from the intermembrane space and subsequent apoptosis (PubMed:18350175).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + D-hexose = ADP + D-hexose 6-phosphate + H(+); Xref=Rhea:RHEA:22740, ChEBI:CHEBI:4194, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:61567, ChEBI:CHEBI:456216; EC=2.7.1.1; Evidence={ECO:0000269 PubMed:23185017, ECO:0000269 PubMed:26985301, ECO:0000269 PubMed:29298880}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:22741; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + D-fructose = ADP + D-fructose 6-phosphate + H(+); Xref=Rhea:RHEA:16125, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:37721, ChEBI:CHEBI:61527, ChEBI:CHEBI:456216; EC=2.7.1.1; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:16126; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + D-glucose = ADP + D-glucose 6-phosphate + H(+); Xref=Rhea:RHEA:17825, ChEBI:CHEBI:4167, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:61548, ChEBI:CHEBI:456216; EC=2.7.1.1; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:17826; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Hexokinase activity is specifically inhibited by 2,6-disubstituted glucosamines.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.21 mM for D-glucose {ECO:0000269 PubMed:29298880}; KM=1.13 mM for ATP {ECO:0000269 PubMed:29298880};
GENATLAS Biochemistry:
hexokinase 2,108kDa,muscle and fat tissues,glycolysis,gluconeogenesis,energy pathways

Enzyme Numbers (IUBMB) for HK2 Gene

Phenotypes From GWAS Catalog for HK2 Gene

Gene Ontology (GO) - Molecular Function for HK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
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:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with HK2: view
genes like me logo Genes that share phenotypes with HK2: view

Animal Models for HK2 Gene

MGI Knock Outs for HK2:
  • Hk2 Hk2<tm1Laak>

Clone Products

  • Addgene plasmids for HK2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HK2 Gene

Localization for HK2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HK2 Gene

Mitochondrion outer membrane; Peripheral membrane protein. Cytoplasm, cytosol. Note=The mitochondrial-binding peptide (MBP) region promotes association with the mitochondrial outer membrane (PubMed:29298880). The interaction with the mitochondrial outer membrane via the mitochondrial-binding peptide (MBP) region promotes higher stability of the protein (PubMed:29298880). Release from the mitochondrial outer membrane into the cytosol induces permeability transition pore (PTP) opening and apoptosis (PubMed:18350175). {ECO:0000269 PubMed:18350175, ECO:0000269 PubMed:29298880}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HK2 gene
Compartment Confidence
mitochondrion 5
cytosol 4
plasma membrane 3
nucleus 3
endoplasmic reticulum 3
extracellular 2
cytoskeleton 2
peroxisome 2
lysosome 2
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for HK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005741 mitochondrial outer membrane IDA 18350175
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with HK2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HK2 Gene

Pathways & Interactions for HK2 Gene

genes like me logo Genes that share pathways with HK2: view

Pathways by source for HK2 Gene

4 GeneGo (Thomson Reuters) pathways for HK2 Gene
  • Galactose metabolism
  • Glycogen metabolism
  • Glycolysis and gluconeogenesis (short map)
  • Transcription_CREM signaling in testis
1 Cell Signaling Technology pathway for HK2 Gene

UniProtKB/Swiss-Prot P52789-HXK2_HUMAN

  • Pathway: Carbohydrate metabolism; hexose metabolism.
  • Pathway: Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 1/4.

SIGNOR curated interactions for HK2 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for HK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0001678 cellular glucose homeostasis IBA,IEA 21873635
GO:0002931 response to ischemia IEA --
GO:0005975 carbohydrate metabolic process IEA --
GO:0006002 fructose 6-phosphate metabolic process IEA,ISS --
genes like me logo Genes that share ontologies with HK2: view

Drugs & Compounds for HK2 Gene

(26) Drugs for HK2 Gene - From: ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
D-glucose Approved, Investigational, Vet_approved Pharma 0
Galactose Approved, Investigational Pharma 0
Glucosamine Approved, Investigational Pharma 81
Sorbitol Approved Pharma 64
Glucose 6-phosphate Experimental Pharma 0

(25) Additional Compounds for HK2 Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
Alpha-D-Glucose
  • alpha-D-GLC
  • alpha-Dextrose
  • a-D-GLC
  • α-D-GLC
  • a-D-Glucose
492-62-6
Beta-D-Fructose 6-phosphate
  • 6-O-phosphono-beta-D-Fructofuranose
  • FRUCTOSE-6-phosphATE
  • 6-O-phosphono-b-D-Fructofuranose
  • 6-O-phosphono-β-D-fructofuranose
  • b-D-Fructose 6-phosphate
dADP
  • 2'-Deoxyadenosine-5'-diphosphate
  • Deoxyadenosine diphosphate
2793-06-8
IDP
  • 5'-IDP
  • Inosine 5'-(trihydrogen diphosphate)
  • Inosine 5'-(trihydrogen pyrophosphate)
  • Inosine 5'-diphosphate
  • Inosine 5'-pyrophosphate
86-04-4

(4) Tocris Compounds for HK2 Gene

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

(1) ApexBio Compounds for HK2 Gene

Compound Action Cas Number
Lonidamine 50264-69-2
genes like me logo Genes that share compounds with HK2: view

Drug Products

Transcripts for HK2 Gene

mRNA/cDNA for HK2 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

  • Addgene plasmids for HK2

Alternative Splicing Database (ASD) splice patterns (SP) for HK2 Gene

No ASD Table

Relevant External Links for HK2 Gene

GeneLoc Exon Structure for
HK2

Expression for HK2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HK2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HK2 Gene

This gene is overexpressed in Whole Blood (x7.0), Muscle - Skeletal (x4.9), and Colon - Transverse (x4.0).

Protein differential expression in normal tissues from HIPED for HK2 Gene

This gene is overexpressed in Brain (14.0), Retina (13.2), Bone (7.6), and Testis (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HK2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HK2

SOURCE GeneReport for Unigene cluster for HK2 Gene:

Hs.406266

mRNA Expression by UniProt/SwissProt for HK2 Gene:

P52789-HXK2_HUMAN
Tissue specificity: Predominant hexokinase isozyme expressed in insulin-responsive tissues such as skeletal muscle.

Evidence on tissue expression from TISSUES for HK2 Gene

  • Muscle(4.5)
  • Blood(4.4)
  • Eye(2.5)
  • Heart(2.5)
  • Intestine(2.3)
  • Nervous system(2.3)
  • Liver(2.2)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with HK2: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for HK2 Gene

Orthologs for HK2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HK2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HK2 31 30
  • 99.49 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HK2 31
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HK2 31 30
  • 90.44 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HK2 31 30
  • 90.1 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Hk2 17 31 30
  • 87.28 (n)
rat
(Rattus norvegicus)
Mammalia Hk2 30
  • 87.2 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HK2 31
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves HK2 31 30
  • 80.28 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HK2 31
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485269 30
  • 75.62 (n)
zebrafish
(Danio rerio)
Actinopterygii hk2 31 30
  • 72.93 (n)
OneToOne
Dr.10553 30
fruit fly
(Drosophila melanogaster)
Insecta Hex-C 31 32
  • 44 (a)
ManyToMany
Hex-A 31 32
  • 42 (a)
ManyToMany
Hex-t2 31 32
  • 41 (a)
ManyToMany
Hex-t1 32
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea F14B4.2 31 32 30
  • 54.12 (n)
OneToMany
H25P06.1 32
  • 39 (a)
Y77E11A.1 32
  • 34 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GLK1 31
  • 34 (a)
ManyToMany
HXK1 31
  • 34 (a)
ManyToMany
HXK2 31
  • 32 (a)
ManyToMany
EMI2 31
  • 32 (a)
ManyToMany
rice
(Oryza sativa)
Liliopsida Os01g0190400 30
  • 47.94 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11095 31
  • 50 (a)
OneToMany
Species where no ortholog for HK2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HK2 Gene

ENSEMBL:
Gene Tree for HK2 (if available)
TreeFam:
Gene Tree for HK2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HK2: view image

Paralogs for HK2 Gene

Paralogs for HK2 Gene

(5) SIMAP similar genes for HK2 Gene using alignment to 4 proteins:

  • HXK2_HUMAN
  • E9PB90_HUMAN
  • Q53QX9_HUMAN
  • Q53SG7_HUMAN

Pseudogenes.org Pseudogenes for HK2 Gene

genes like me logo Genes that share paralogs with HK2: view

Variants for HK2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for HK2 Gene

HXK2_HUMAN-P52789
Although found in NIDDM patients, genetic variations of HK2 do not contribute to the disease (PubMed:7883122, PubMed:7883123).

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HK2 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
731507 Likely Benign: not provided 74,878,832(+) C/T SYNONYMOUS_VARIANT
755040 Likely Benign: not provided 74,867,791(+) C/A INTRON_VARIANT
782237 Benign: not provided 74,880,544(+) C/T SYNONYMOUS_VARIANT
784456 Benign: not provided 74,877,202(+) G/A SYNONYMOUS_VARIANT
rs145124653 - p.Arg497Gln

Additional dbSNP identifiers (rs#s) for HK2 Gene

Structural Variations from Database of Genomic Variants (DGV) for HK2 Gene

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

Variation tolerance for HK2 Gene

Residual Variation Intolerance Score: 37.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.44; 85.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HK2 Gene

Human Gene Mutation Database (HGMD)
HK2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HK2

SNP Genotyping and Copy Number Assay Products

Disorders for HK2 Gene

MalaCards: The human disease database

(10) MalaCards diseases for HK2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pediatric osteosarcoma
  • childhood osteosarcoma
chondroblastoma
  • chondroblastoma of bone
diabetes mellitus
  • diabetes
diabetes mellitus, noninsulin-dependent
  • niddm
maturity-onset diabetes of the young
  • mody
- elite association - COSMIC cancer census association via MalaCards
Search HK2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HK2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HK2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HK2 Gene

Publications for HK2 Gene

  1. Amino acid substitutions in hexokinase II among patients with NIDDM. (PMID: 7883120) Laakso M … Deeb SS (Diabetes 1995) 3 4 23 41 54
  2. Analysis of the hexokinase II gene in subjects with insulin resistance and NIDDM and detection of a Gln142-->His substitution. (PMID: 7883122) Vidal-Puig A … Moller DE (Diabetes 1995) 3 4 23 41 54
  3. Identification of four amino acid substitutions in hexokinase II and studies of relationships to NIDDM, glucose effectiveness, and insulin sensitivity. (PMID: 7883123) Echwald SM … Pedersen O (Diabetes 1995) 3 4 23 41 54
  4. Hexokinase II detachment from mitochondria triggers apoptosis through the permeability transition pore independent of voltage-dependent anion channels. (PMID: 18350175) Chiara F … Rasola A (PloS one 2008) 3 4 23 54
  5. Human hexokinase II gene: exon-intron organization, mutation screening in NIDDM, and its relationship to muscle hexokinase activity. (PMID: 8786021) Lehto M … Groop L (Diabetologia 1995) 3 4 23 54

Products for HK2 Gene

  • Addgene plasmids for HK2
  • Signalway ELISA kits for HK2
  • Signalway Proteins for HK2

Sources for HK2 Gene