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HK2 Gene(Protein Coding)

Hexokinase 2

GCID:
GC02P074796
GIFtS:
53
Genes Participants
UDN Logo

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
  • EC 2.7.1.1 4 56
  • HK II 3 4
  • Hexokinase-2, Muscle 3
  • EC 2.7.1 56
  • HKII 3
  • HXK2 3

External Ids for HK2 Gene

Previous GeneCards Identifiers for HK2 Gene

  • GC02P075198
  • GC02P075018
  • GC02P075035
  • GC02P075034
  • GC02P074971
  • 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 HIF-1-alpha transcription factor network. 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.

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 , UniProtKB/Swiss-Prot , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HK2 Gene

Genomics for HK2 Gene

GeneHancer (GH) Regulatory Elements for HK2 Gene

Promoters and enhancers for HK2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH02J074831 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 615 +2.9 2917 8.1 HDGF ZNF652 SP1 ELF3 CTCF MNT ZNF148 NKRF ZNF384 ZNF687 HK2 ENSG00000272711 GC02M074813 GC02M074833 GC02P074837 PIR31548 WBP1 BOLA3-AS1 FNBP1P1 GC02P074832
GH02J074872 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 49.8 +41.6 41577 4.9 CTCF RAD21 CEBPA REST TRIM22 SCRT2 RUNX3 ZBTB17 SCRT1 SMC3 HK2 SEMA4F M1AP MTHFD2 LBX2 GC02P074877 GC02M074860
GH02J074842 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 40.7 +12.4 12413 4.9 MYC POLR2A IKZF1 FOSL2 CREB1 ZNF600 IKZF2 GATAD2A ZNF692 CTBP1 HK2 LBX2 GC02M074813 GC02M074860
GH02J074847 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 23.9 +17.3 17332 4.6 SP1 CEBPG NCOA3 RELA IKZF1 CEBPA GATAD2A IKZF2 CTBP1 RUNX3 HK2 SEMA4F M1AP ENSG00000236209 LINC01293 GC02M074813 GC02M074860
GH02J074764 Enhancer 1.2 Ensembl ENCODE 12 -68.6 -68554 10.6 CTCF ELF3 CEBPG RERE ZNF24 TFE3 HNF1A PPARG SP5 ZNF384 HK2 SEMA4F M1AP TACR1 RPS28P5 LOC102724482
- 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

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 Structure • Gene Density

RefSeq DNA sequence for HK2 Gene

Proteins for HK2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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 HK2 activity in a hypoxia- and HIF1A-dependent manner (PubMed:23185017).
    Miscellaneous:
    • In vertebrates there are four major glucose-phosphorylating isoenzymes, designated hexokinase I, II, III and IV (glucokinase).

    Three dimensional structures from OCA and Proteopedia for HK2 Gene

neXtProt entry for HK2 Gene

Protein Expression for HK2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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 posLast=323323, isoforms=488, posLast=899899, posLast=6262, isoforms=41, and posLast=173173
  • Modification sites at PhosphoSitePlus

Other Protein References for HK2 Gene

ENSEMBL proteins:
REFSEQ proteins:

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:
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 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.
  • Belongs to the hexokinase family.
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.
Family:
  • Belongs to the hexokinase family.
genes like me logo Genes that share domains with HK2: view

Function for HK2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for HK2 Gene

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;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Hexokinase is an allosteric enzyme inhibited by its product Glc-6-P.
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 IBA 21873635
GO:0004396 hexokinase activity TAS,IEA 9278438
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>

Animal Model Products

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for HK2 - Now 50% OFF >
  • * HK2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * HK2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • 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. Note=Its hydrophobic N-terminal sequence may be involved in membrane binding. {ECO:0000250}.

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 2
nucleus 2
endoplasmic reticulum 2
extracellular 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for HK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005739 mitochondrion IEA --
GO:0005741 mitochondrial outer membrane IDA 18350175
GO:0005829 cytosol IEA,TAS --
GO:0005886 plasma membrane IEA --
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

GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards
genes like me logo Genes that share pathways with HK2: view

UniProtKB/Swiss-Prot P52789-HXK2_HUMAN

  • Pathway: Carbohydrate metabolism; hexose metabolism.

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:0006006 glucose metabolic process IEA --
genes like me logo Genes that share ontologies with HK2: view

No data available for SIGNOR curated interactions for HK2 Gene

Drugs & Compounds for HK2 Gene

Products:

  1. Drug
GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards

(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 78
Sorbitol Approved Pharma 52
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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for HK2 Gene

(1) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(216) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for HK2 Gene

Hexokinase 2:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for HK2 - Now 50% OFF >
  • * HK2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * HK2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • 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
ECgene alternative splicing isoforms for
HK2

Expression for HK2 Gene

Products:

  1. Primer
  2. Gene Expression Assay
GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards

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

mRNA expression in normal human tissues for HK2 Gene
mRNA expression by BioGPS for HK2 GenemRNA expression by GTEx 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



NURSA nuclear receptor signaling pathways regulating expression of HK2 Gene:

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 35 34
  • 99.49 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia HK2 35
  • 93 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia HK2 35 34
  • 90.44 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia HK2 35 34
  • 90.1 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Hk2 17 35 34
  • 87.28 (n)
rat
(Rattus norvegicus)
 Mammalia Hk2 34
  • 87.2 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia HK2 35
  • 67 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves HK2 35 34
  • 80.28 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia HK2 35
  • 82 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC100485269 34
  • 75.62 (n)
zebrafish
(Danio rerio)
 Actinopterygii hk2 35 34
  • 72.93 (n)
 OneToOne
Dr.10553 34
fruit fly
(Drosophila melanogaster)
 Insecta Hex-C 35 36
  • 44 (a)
 ManyToMany
Hex-A 35 36
  • 42 (a)
 ManyToMany
Hex-t2 35 36
  • 41 (a)
 ManyToMany
Hex-t1 36
  • 30 (a)
worm
(Caenorhabditis elegans)
 Secernentea F14B4.2 35 36 34
  • 54.12 (n)
 OneToMany
H25P06.1 36
  • 39 (a)
Y77E11A.1 36
  • 34 (a)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes GLK1 35
  • 34 (a)
 ManyToMany
HXK1 35
  • 34 (a)
 ManyToMany
HXK2 35
  • 32 (a)
 ManyToMany
EMI2 35
  • 32 (a)
 ManyToMany
rice
(Oryza sativa)
 Liliopsida Os01g0190400 34
  • 47.94 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.11095 35
  • 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

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  1. SNP Genotyping and Copy Number Assay
VarElect - NGS phenotyper. Rapid prioritization of variants from NGS data powered by 100+ GeneCards sources

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 from dbSNP and Humsavar for HK2 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000000977 -- 74,845,386(+) C/T intron_variant
rs1000034228 -- 74,892,881(+) A/G 3_prime_UTR_variant
rs1000036793 -- 74,888,176(+) A/T intron_variant
rs1000132043 -- 74,870,825(+) T/C intron_variant
rs1000145026 -- 74,888,345(+) T/G intron_variant

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

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

SNP Genotyping and Copy Number Assay Products

Disorders for HK2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
pediatric osteosarcoma
  • childhood osteosarcoma
chondroblastoma
  • chondroblastoma of bone
diabetes mellitus
  • diabetes
diabetes mellitus, noninsulin-dependent
  • niddm
- 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 45 58
  2. 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 45 58
  3. 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 45 58
  4. 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 58
  5. Steady state transcript levels of the type II hexokinase and type 1 glucose transporter in human tumor cell lines. (PMID: 7518342) Shinohara Y … Terada H (Cancer letters 1994) 3 4 23 58

ExternalLinks

View latest publications for HK2 gene in Mastermind

Products for HK2 Gene

  • Addgene plasmids for HK2

Sources for HK2 Gene

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