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 HK2
Gene summary
Basic gene Info.Gene symbolHK2
Gene namehexokinase 2
SynonymsHKII|HXK2
CytomapUCSC genome browser: 2p13
Type of geneprotein-coding
RefGenesNM_000189.4,
DescriptionHK IIhexokinase type IIhexokinase-2hexokinase-2, musclemuscle form hexokinase
Modification date20141207
dbXrefs MIM : 601125
HGNC : HGNC
Ensembl : ENSG00000159399
HPRD : 03080
Vega : OTTHUMG00000129972
ProteinUniProt: P52789
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_HK2
BioGPS: 3099
PathwayNCI Pathway Interaction Database: HK2
KEGG: HK2
REACTOME: HK2
Pathway Commons: HK2
ContextiHOP: HK2
ligand binding site mutation search in PubMed: HK2
UCL Cancer Institute: HK2
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:0008637apoptotic mitochondrial changes18350175


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Ligand binding site mutations for HK2

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
P157H159YBRCA1
D861D861YCOAD1
P157P157LSKCM1
N235A236TSTAD1
I229I229TSTAD1
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 HK2
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
D861D861Y0.27491011
I229I229T-1.1066315
N235A236T-0.55471408
P157P157L-0.49758909
P157H159Y-0.46952274
(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 HK2 from PDB

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Differential gene expression and gene-gene network for HK2
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 HK2 and the right PPI network was created from samples without mutations in the LBS of HK2. 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 HK2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0028754Obesity4Biomarker
umls:C0151744Myocardial Ischemia1Biomarker

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

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Pharmacological information for HK2
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 HK2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
BG6BETA-D-GLUCOSE 6-PHOSPHATE2nztAD861
BG6BETA-D-GLUCOSE 6-PHOSPHATE2nztBD861
BG6BETA-D-GLUCOSE 6-PHOSPHATE2nztAI229
BG6BETA-D-GLUCOSE 6-PHOSPHATE2nztBI229
GLCALPHA-D-GLUCOSE2nztAP157 I229 N235
GLCALPHA-D-GLUCOSE2nztBP157 I229 N235


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Conservation information for LBS of HK2
Multiple alignments for P52789 in multiple species
LBSAA sequence# speciesSpecies
D209VAVVNDTVGTM3Homo sapiens, Mus musculus, Rattus norvegicus
D413STIGVDGSVYK3Homo sapiens, Mus musculus, Rattus norvegicus
D84EFLALDLGGTN3Homo sapiens, Mus musculus, Rattus norvegicus
D861VTVGVDGTLYK3Homo sapiens, Mus musculus, Rattus norvegicus
E260MCINMEWGAFG3Homo sapiens, Mus musculus, Rattus norvegicus
E294GKQLFEKMISG3Homo sapiens, Mus musculus, Rattus norvegicus
F156GFTFSFPCHQT3Homo sapiens, Mus musculus, Rattus norvegicus
G231IGLIVGTGSNA3Homo sapiens, Mus musculus, Rattus norvegicus
G233LIVGTGSNACY3Homo sapiens, Mus musculus, Rattus norvegicus
G414TIGVDGSVYKK3Homo sapiens, Mus musculus, Rattus norvegicus
G448LRSEDGSGKGA3Homo sapiens, Mus musculus, Rattus norvegicus
G862TVGVDGTLYKL3Homo sapiens, Mus musculus, Rattus norvegicus
G87ALDLGGTNFRV3Homo sapiens, Mus musculus, Rattus norvegicus
I229CEIGLIVGTGS3Homo sapiens, Mus musculus, Rattus norvegicus
K173LVSWTKGFKSS3Homo sapiens, Mus musculus, Rattus norvegicus
N208IVAVVNDTVGT3Homo sapiens, Mus musculus, Rattus norvegicus
N235VGTGSNACYME3Homo sapiens, Mus musculus, Rattus norvegicus
P157FTFSFPCHQTK3Homo sapiens, Mus musculus, Rattus norvegicus
Q291LNPGKQLFEKM3Homo sapiens, Mus musculus, Rattus norvegicus
S155LGFTFSFPCHQ3Homo sapiens, Mus musculus, Rattus norvegicus
S234IVGTGSNACYM3Homo sapiens, Mus musculus, Rattus norvegicus
S415IGVDGSVYKKH3Homo sapiens, Mus musculus, Rattus norvegicus
S449RSEDGSGKGAA3Homo sapiens, Mus musculus, Rattus norvegicus
S603LGFTFSFPCQQ3Homo sapiens, Mus musculus, Rattus norvegicus
T153LPLGFTFSFPC3Homo sapiens, Mus musculus, Rattus norvegicus
T172FLVSWTKGFKS3Homo sapiens, Mus musculus, Rattus norvegicus
T210AVVNDTVGTMM3Homo sapiens, Mus musculus, Rattus norvegicus
T232GLIVGTGSNAC3Homo sapiens, Mus musculus, Rattus norvegicus
T863VGVDGTLYKLH3Homo sapiens, Mus musculus, Rattus norvegicus
T88LDLGGTNFRVL3Homo sapiens, Mus musculus, Rattus norvegicus


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