mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for HK3
Gene summary
Basic gene Info.Gene symbolHK3
Gene namehexokinase 3 (white cell)
SynonymsHKIII|HXK3
CytomapUCSC genome browser: 5q35.2
Type of geneprotein-coding
RefGenesNM_002115.2,
DescriptionATP:D-hexose 6-phosphotransferaseHK IIIhexokinase type IIIhexokinase-3
Modification date20141207
dbXrefs MIM : 142570
HGNC : HGNC
Ensembl : ENSG00000160883
HPRD : 00806
Vega : OTTHUMG00000130855
ProteinUniProt: P52790
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_HK3
BioGPS: 3101
PathwayNCI Pathway Interaction Database: HK3
KEGG: HK3
REACTOME: HK3
Pathway Commons: HK3
ContextiHOP: HK3
ligand binding site mutation search in PubMed: HK3
UCL Cancer Institute: HK3
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0046835carbohydrate phosphorylation8717435


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Ligand binding site mutations for HK3

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
E714M713TCOAD1
E714G716DHNSC1
D867D867YLUAD1
D222D222NOV1
G545G544VSKCM1
N248A249TUCEC1
T546T546MUCEC1
E748F747LUCEC1
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.


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Protein structure related information for HK3
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
D867D867Y0.27491011
E714M713T-0.96302942
D222D222N-0.64789873
G545G544V-0.61119811
T546T546M-0.56357721
E714G716D-0.4344935
N248A249T-0.35566583
E748F747L-0.11607573
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for HK3 from PDB

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Differential gene expression and gene-gene network for HK3
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of HK3 and the right PPI network was created from samples without mutations in the LBS of HK3. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for HK3
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0023895Liver Diseases1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for HK3
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of HK3 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
GLCALPHA-D-GLUCOSE3hm8AE714 E748
GLCALPHA-D-GLUCOSE3hm8BE714 E748
GLCALPHA-D-GLUCOSE3hm8CE714 E748
GLCALPHA-D-GLUCOSE3hm8DE714 E748
BG6BETA-D-GLUCOSE 6-PHOSPHATE3hm8AG545 T546 D867
BG6BETA-D-GLUCOSE 6-PHOSPHATE3hm8BG545 T546 D867
BG6BETA-D-GLUCOSE 6-PHOSPHATE3hm8CG545 T546 D867
BG6BETA-D-GLUCOSE 6-PHOSPHATE3hm8DG545 T546 D867


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Conservation information for LBS of HK3
Multiple alignments for P52790 in multiple species
LBSAA sequence# speciesSpecies
D222VAMVNDTVGTM2Mus musculus, Rattus norvegicus
D222VAVVNDTVGTM1Homo sapiens
D542DFLALDLGGTN3Homo sapiens, Mus musculus, Rattus norvegicus
D867VSVGVDGTLYK3Homo sapiens, Mus musculus, Rattus norvegicus
E714MCINMEWGAFG3Homo sapiens, Mus musculus, Rattus norvegicus
E748GKQRFEKMISG3Homo sapiens, Mus musculus, Rattus norvegicus
F610GFTFSFPCKQL2Mus musculus, Rattus norvegicus
F610GFTFSFPCRQL1Homo sapiens
G246LIVDTGTNACY2Mus musculus, Rattus norvegicus
G246LVVDTGTNACY1Homo sapiens
G545ALDLGGTNFRV3Homo sapiens, Mus musculus, Rattus norvegicus
G685MGLIVGTGTNA2Mus musculus, Rattus norvegicus
G685IGLIVGTGTNA1Homo sapiens
G868SVGVDGTLYKL3Homo sapiens, Mus musculus, Rattus norvegicus
G902LQSEDGSGKGA3Homo sapiens, Mus musculus, Rattus norvegicus
I683CEMGLIVGTGT2Mus musculus, Rattus norvegicus
I683CEIGLIVGTGT1Homo sapiens
K627LLNWTKGFNAS2Mus musculus, Rattus norvegicus
K627LLNWTKGFKAS1Homo sapiens
N221VVAMVNDTVGT2Mus musculus, Rattus norvegicus
N221VVAVVNDTVGT1Homo sapiens
N248VDTGTNACYME3Homo sapiens, Mus musculus, Rattus norvegicus
Q304LNPGAQRFEKM1Homo sapiens
Q304LTPGAQRFEKM1Mus musculus
Q304LVPGAQRFEKM1Rattus norvegicus
S609LGFTFSFPCKQ2Mus musculus, Rattus norvegicus
S609LGFTFSFPCRQ1Homo sapiens
S903QSEDGSGKGAA3Homo sapiens, Mus musculus, Rattus norvegicus
T223AMVNDTVGTMM2Mus musculus, Rattus norvegicus
T223AVVNDTVGTMM1Homo sapiens
T245GLIVDTGTNAC2Mus musculus, Rattus norvegicus
T245GLVVDTGTNAC1Homo sapiens
T247IVDTGTNACYM2Mus musculus, Rattus norvegicus
T247VVDTGTNACYM1Homo sapiens
T546LDLGGTNFRVL3Homo sapiens, Mus musculus, Rattus norvegicus
T626ILLNWTKGFNA2Mus musculus, Rattus norvegicus
T626ILLNWTKGFKA1Homo sapiens
T869VGVDGTLYKLH3Homo sapiens, Mus musculus, Rattus norvegicus


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