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 285540
Gene summary
Basic gene Info.Gene symbol285540
Gene name
CytomapUCSC genome browser:
Type of gene
Modification date
ProteinUniProt: Q8TCG2
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_285540
BioGPS: 285540
PathwayNCI Pathway Interaction Database: 285540
KEGG: 285540
REACTOME: 285540
Pathway Commons: 285540
ContextiHOP: 285540
ligand binding site mutation search in PubMed: 285540
UCL Cancer Institute: 285540
Assigned class in mutLBSgeneDB

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for 285540

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for 285540
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
(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 285540 from PDB

Differential gene expression and gene-gene network for 285540
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 285540 and the right PPI network was created from samples without mutations in the LBS of 285540. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for 285540
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

Pharmacological information for 285540
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 285540 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ATPATP4wtvAV146 I343
ATPATP4wtvBV146 I343

Conservation information for LBS of 285540
Multiple alignments for Q8TCG2 in multiple species
LBSAA sequence# speciesSpecies
D344KIAAIDNGLAF5Homo sapiens, Danio rerio, Mus musculus, Gallus gallus, Xenopus tropicalis
D344KLAAIDNGLSF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D344QIGAIDNSLAF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D344RIAAIDNGLAF1Rattus norvegicus
F135SSGSYFVKDPK3Homo sapiens, Danio rerio, Xenopus tropicalis
F135SSGSYFVKDSK2Mus musculus, Rattus norvegicus
F135SSGSYFVYGTR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F135SSGSYFVKNKV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F135SSGSYFVKDCK1Gallus gallus
F259GSFQLFVEGYK2Homo sapiens, Gallus gallus
F259GSFQLFVKDYK2Mus musculus, Rattus norvegicus
F259GSFQLFLKEYI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F259GSFQQFLDGFV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F259GSFQLFVEGYH1Danio rerio
F259GSFQLFVDGYK1Xenopus tropicalis
I126VFPERISQGSS4Danio rerio, Mus musculus, Rattus norvegicus, Xenopus tropicalis
I126IFPERISQGSS1Homo sapiens
I126RELERIQTGSS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I126VFPVLISKGSS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I126VLPERISQGSS1Gallus gallus
I343IKIAAIDNGLA5Homo sapiens, Danio rerio, Mus musculus, Gallus gallus, Xenopus tropicalis
I343LKLAAIDNGLS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I343FQIGAIDNSLA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I343IRIAAIDNGLA1Rattus norvegicus
K148-IGVFKPKSEE6Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Gallus gallus, Xenopus tropicalis
K148PVGVFKPKDEE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K148-IAVFKPKDEE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L258VGSFQLFVEGY2Danio rerio, Gallus gallus
L258IGSFQLFVEGY1Homo sapiens
L258LGSFQLFLKEY1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L258TGSFQQFLDGF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L258VGSFQLFVKDY1Mus musculus
L258IGSFQLFVKDY1Rattus norvegicus
L258VGSFQLFVDGY1Xenopus tropicalis
L311GNDNWLVR---2Homo sapiens, Gallus gallus
L311GNDNWLVK---2Mus musculus, Rattus norvegicus
L311GLDNWMVK---1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L311NLDNWMIKICY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L311GNDNWLIK---1Danio rerio
L311GNDNWLIR---1Xenopus tropicalis
P205GLGVVPKTKVV2Gallus gallus, Xenopus tropicalis
P205HLSIVPKTKVV1Homo sapiens
P205ETHLVPYTDTA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
P205GLYLVPYTSVA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
P205GLWIVPKTKVV1Danio rerio
P205NLGIVPKTKVV1Mus musculus
P205QLGIVPKTKVV1Rattus norvegicus
Q257KVGSFQLFVEG2Danio rerio, Gallus gallus
Q257KIGSFQLFVEG1Homo sapiens
Q257KLGSFQLFLKE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q257KTGSFQQFLDG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q257KVGSFQLFVKD1Mus musculus
Q257KIGSFQLFVKD1Rattus norvegicus
Q257KVGSFQLFVDG1Xenopus tropicalis
S133QGSSGSYFVKD6Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Gallus gallus, Xenopus tropicalis
S133TGSSGSYFVYG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S133KGSSGSYFVKN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V146---IGVFKPKS6Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Gallus gallus, Xenopus tropicalis
V146SVPVGVFKPKD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V146---IAVFKPKD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V260SFQLFVEGYKE2Homo sapiens, Gallus gallus
V260SFQLFVKDYKE2Mus musculus, Rattus norvegicus
V260SFQLFLKEYIN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V260SFQQFLDGFVV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V260SFQLFVEGYHE1Danio rerio
V260SFQLFVDGYKE1Xenopus tropicalis

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