mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

Home

Download

 Statistics

Help

About Us
Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 GCKR
Gene summary
Basic gene Info.Gene symbolGCKR
Gene nameglucokinase (hexokinase 4) regulator
SynonymsFGQTL5|GKRP
CytomapUCSC genome browser: 2p23
Type of geneprotein-coding
RefGenesNM_001486.3,
Descriptionglucokinase regulatory protein
Modification date20141211
dbXrefs MIM : 600842
HGNC : HGNC
Ensembl : ENSG00000084734
HPRD : 02909
Vega : OTTHUMG00000128426
ProteinUniProt: Q14397
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_GCKR
BioGPS: 2646
PathwayNCI Pathway Interaction Database: GCKR
KEGG: GCKR
REACTOME: GCKR
Pathway Commons: GCKR
ContextiHOP: GCKR
ligand binding site mutation search in PubMed: GCKR
UCL Cancer Institute: GCKR
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:0009750response to fructose14627435
GO:0033132negative regulation of glucokinase activity14627435


Top
Ligand binding site mutations for GCKR
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
 : non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
R259R259QCOAD1
S34N35TLUSC1
R259R259WLUSC1
S257S257FSKCM1
E150E150KUCEC1
S183S183YUCEC1
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.


Top
Protein structure related information for GCKR
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
S183S183Y0.1357207
R259R259Q-1.3525338
R259R259W-0.99492406
E150E150K-0.51114947
S34N35T-0.44217411
S257S257F-0.38865614
(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 GCKR from PDB

Top
Differential gene expression and gene-gene network for GCKR
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 GCKR and the right PPI network was created from samples without mutations in the LBS of GCKR. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Top

Top
Phenotype information for GCKR
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0011860Diabetes Mellitus, Type 230Biomarker, GeneticVariation
umls:C0020557Hypertriglyceridemia4Biomarker, GeneticVariation

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

Top
Pharmacological information for GCKR
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 GCKR go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
S6PSORBITOL 6-PHOSPHATE4op3AE150 R259
S6PSORBITOL 6-PHOSPHATE4ohkAE150 R259
S6PSORBITOL 6-PHOSPHATE4ly9AE150 S257 R259
S6PSORBITOL 6-PHOSPHATE4ly9BE150 S257 R259
S6PSORBITOL 6-PHOSPHATE4msuAE150 S257 R259
S6PSORBITOL 6-PHOSPHATE4msuBE150 S257 R259
S6PSORBITOL 6-PHOSPHATE4mquAE150 S257 R259
S6PSORBITOL 6-PHOSPHATE4mquBE150 S257 R259
S6PSORBITOL 6-PHOSPHATE4mroAE150 S257 R259
S6PSORBITOL 6-PHOSPHATE4mroBE150 S257 R259
S6PSORBITOL 6-PHOSPHATE4olhAE150 S257 R259
S6PSORBITOL 6-PHOSPHATE4olhBE150 S257 R259
S6PSORBITOL 6-PHOSPHATE4ohmAE150 S257 R259
S6PSORBITOL 6-PHOSPHATE4ohmBE150 S257 R259
S6PSORBITOL 6-PHOSPHATE4ohoAE150 S257 R259
S6PSORBITOL 6-PHOSPHATE4ohoBE150 S257 R259
S6PSORBITOL 6-PHOSPHATE4ohpAE150 S257 R259
S6PSORBITOL 6-PHOSPHATE4ohpBE150 S257 R259
S6PSORBITOL 6-PHOSPHATE4op1AE150 S257 R259
S6PSORBITOL 6-PHOSPHATE4op1BE150 S257 R259
S6PSORBITOL 6-PHOSPHATE4op2AE150 S257 R259
S6PSORBITOL 6-PHOSPHATE4op2BE150 S257 R259
S6PSORBITOL 6-PHOSPHATE4op3BE150 S257 R259
S6PSORBITOL 6-PHOSPHATE4ohkBE150 S257 R259
S6PSORBITOL 6-PHOSPHATE4pxsAE150 S257 R259
S6PSORBITOL 6-PHOSPHATE4pxsBE150 S257 R259
S6PSORBITOL 6-PHOSPHATE4px2AE150 S257 R259
S6PSORBITOL 6-PHOSPHATE4px2BE150 S257 R259
S6PSORBITOL 6-PHOSPHATE4px3AE150 S257 R259
S6PSORBITOL 6-PHOSPHATE4px3BE150 S257 R259
S6PSORBITOL 6-PHOSPHATE4px5AE150 S257 R259
S6PSORBITOL 6-PHOSPHATE4px5BE150 S257 R259
2EU1,1,1,3,3,3-HEXAFLUORO-2-{4-[4-(THIOPHEN-2-YLSULFONYL) PIPERAZIN-1-YL]PHENYL}PROPAN-2-OL4msuAS183
MG9AMG-39692-{4-[(2S)-4-[(6-AMINOPYRIDIN-3-YL)SULFONYL]-2-(PROP-1- YN-1-YL)PIPERAZIN-1-YL]PHENYL}-1,1,1,3,3,3- HEXAFLUOROPROPAN-2-OL4mquAS183
2UX(2S)-2-{4'-[(6-AMINOPYRIDIN-3-YL)SULFONYL]BIPHENYL-4- YL}-1,1,1-TRIFLUOROPROPAN-2-OL4op2AS183
2TE(2R)-2-{4-[(2S)-4-[(6-AMINOPYRIDIN-3-YL)SULFONYL]-2- (PROP-1-YN-1-YL)PIPERAZIN-1-YL]PHENYL}-1,1,1- TRIFLUOROHEX-4-YN-2-OL4ohkAS183
2TJ4-[(2S)-4-[(6-AMINOPYRIDIN-3-YL)SULFONYL]-2-(PROP-1-YN- 1-YL)PIPERAZIN-1-YL]-N-METHYLBENZENESULFONAMIDE4ohpAS34


Top
Conservation information for LBS of GCKR
Multiple alignments for Q14397 in multiple species
LBSAA sequence# speciesSpecies
A184SVGLSAPFVAG3Homo sapiens, Mus musculus, Rattus norvegicus
A214NPVSMARNDPI3Homo sapiens, Mus musculus, Rattus norvegicus
A27SGYEAAVPITE3Homo sapiens, Mus musculus, Rattus norvegicus
A521FWRALAMLQRF2Homo sapiens, Rattus norvegicus
A521---------RF1Mus musculus
D217SMARNDPIEDW3Homo sapiens, Mus musculus, Rattus norvegicus
E150VVASREGTEDS1Homo sapiens
E150VVASRERTEDS1Mus musculus
E150VVASREQTEDS1Rattus norvegicus
E153SREGTEDSALH1Homo sapiens
E153SRERTEDSALH1Mus musculus
E153SREQTEDSALH1Rattus norvegicus
E32AVPITEKSNPL3Homo sapiens, Mus musculus, Rattus norvegicus
E348IMDGVECIHTF3Homo sapiens, Mus musculus, Rattus norvegicus
E566VQVAHEKEKVI2Mus musculus, Rattus norvegicus
E566VQVAHEKEQVI1Homo sapiens
E568VAHEKEKVIPT2Mus musculus, Rattus norvegicus
E568VAHEKEQVIPI1Homo sapiens
F526AMLQRFSGQSK2Homo sapiens, Rattus norvegicus
F526----RFSGQSK1Mus musculus
G107VVLSGGGTSGR3Homo sapiens, Mus musculus, Rattus norvegicus
G108VLSGGGTSGRM3Homo sapiens, Mus musculus, Rattus norvegicus
G181IGISVGLSAPF3Homo sapiens, Mus musculus, Rattus norvegicus
H351GVECIHTFGAD3Homo sapiens, Mus musculus, Rattus norvegicus
H504KILQNHMLDLR2Homo sapiens, Rattus norvegicus
H504-----------1Mus musculus
H9TKRYQHVIETP2Mus musculus, Rattus norvegicus
H9TKRFQHVIETP1Homo sapiens
I11RYQHVIETPEP2Mus musculus, Rattus norvegicus
I11RFQHVIETPEP1Homo sapiens
K514RISNSKLFWRA1Homo sapiens
K514-----------1Mus musculus
K514RIANSKLFWRA1Rattus norvegicus
M213FNPVSMARNDP3Homo sapiens, Mus musculus, Rattus norvegicus
M522WRALAMLQRFS2Homo sapiens, Rattus norvegicus
M522--------RFS1Mus musculus
N209VLVGFNPVSMA3Homo sapiens, Mus musculus, Rattus norvegicus
N216VSMARNDPIED3Homo sapiens, Mus musculus, Rattus norvegicus
N512DLRISNSKLFW1Homo sapiens
N512-----------1Mus musculus
N512DLRIANSKLFW1Rattus norvegicus
P29YEAAVPITEKS3Homo sapiens, Mus musculus, Rattus norvegicus
Q524ALAMLQRFSGQ2Homo sapiens, Rattus norvegicus
Q524------RFSGQ1Mus musculus
R215PVSMARNDPIE3Homo sapiens, Mus musculus, Rattus norvegicus
R259LSGSSRMKGGS2Homo sapiens, Mus musculus
R259LSGSSRMKGGG1Rattus norvegicus
R518SKLFWRALAML2Homo sapiens, Rattus norvegicus
R518-----------1Mus musculus
R525LAMLQRFSGQS2Homo sapiens, Rattus norvegicus
R525-----RFSGQS1Mus musculus
S110SGGGTSGRMAF3Homo sapiens, Mus musculus, Rattus norvegicus
S179VVIGISVGLSA2Mus musculus, Rattus norvegicus
S179IVIGISVGLSA1Homo sapiens
S183ISVGLSAPFVA3Homo sapiens, Mus musculus, Rattus norvegicus
S257EGLSGSSRMKG3Homo sapiens, Mus musculus, Rattus norvegicus
S258GLSGSSRMKGG3Homo sapiens, Mus musculus, Rattus norvegicus
S34PITEKSNPLTR2Mus musculus, Rattus norvegicus
S34PITEKSNPLTQ1Homo sapiens
T109LSGGGTSGRMA3Homo sapiens, Mus musculus, Rattus norvegicus
V10KRYQHVIETPE2Mus musculus, Rattus norvegicus
V10KRFQHVIETPE1Homo sapiens
V180VIGISVGLSAP3Homo sapiens, Mus musculus, Rattus norvegicus
V28GYEAAVPITEK3Homo sapiens, Mus musculus, Rattus norvegicus
W517NSKLFWRALAM2Homo sapiens, Rattus norvegicus
W517-----------1Mus musculus
Y24WELSGYEAAVP3Homo sapiens, Mus musculus, Rattus norvegicus


Copyright © 2016-Present - The University of Texas Health Science Center at Houston
Site Policies | State of Texas