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 BCL2
Gene summary
Basic gene Info.Gene symbolBCL2
Gene nameB-cell CLL/lymphoma 2
SynonymsBcl-2|PPP1R50
CytomapUCSC genome browser: 18q21.3
Type of geneprotein-coding
RefGenesNM_000633.2,
NM_000657.2,
Descriptionapoptosis regulator Bcl-2protein phosphatase 1, regulatory subunit 50
Modification date20141222
dbXrefs MIM : 151430
HGNC : HGNC
HPRD : 01045
ProteinUniProt: P10415
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_BCL2
BioGPS: 596
PathwayNCI Pathway Interaction Database: BCL2
KEGG: BCL2
REACTOME: BCL2
Pathway Commons: BCL2
ContextiHOP: BCL2
ligand binding site mutation search in PubMed: BCL2
UCL Cancer Institute: BCL2
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0000209protein polyubiquitination16717086
GO:0006915apoptotic process36599
GO:0008625extrinsic apoptotic signaling pathway via death domain receptors10597216
GO:0009636response to toxic substance16307838
GO:0010039response to iron ion11264898
GO:0022898regulation of transmembrane transporter activity9219694
GO:0030307positive regulation of cell growth8022822
GO:0032848negative regulation of cellular pH reduction10506221
GO:0034097response to cytokine9184696
GO:0035094response to nicotine12421819
GO:0042100B cell proliferation1373874
GO:0042493response to drug36599
GO:0043066negative regulation of apoptotic process10506221
GO:0043496regulation of protein homodimerization activity9111042
GO:0043497regulation of protein heterodimerization activity9111042
GO:0043524negative regulation of neuron apoptotic process7546744
GO:0051607defense response to virus10620603
GO:0051924regulation of calcium ion transport8022822
GO:0055085transmembrane transport9219694
GO:0070059intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress15776018
GO:2001243negative regulation of intrinsic apoptotic signaling pathway11684014


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Ligand binding site mutations for BCL2
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
M115M115ILUAD1
R129G128ESTAD1
A100R98LSTAD1
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 BCL2
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
A100R98L-0.54076755
M115M115I-0.34036724
R129G128E-0.05742858
(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 BCL2 from PDB

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Differential gene expression and gene-gene network for BCL2
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 BCL2 and the right PPI network was created from samples without mutations in the LBS of BCL2. 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 BCL2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0024301Lymphoma, Follicular346AlteredExpression, Biomarker, GeneticVariation
umls:C0023434Leukemia, Lymphocytic, Chronic, B-Cell165AlteredExpression, Biomarker, GeneticVariation
umls:C0007097Carcinoma121AlteredExpression, Biomarker
umls:C0023467Leukemia, Myeloid, Acute85AlteredExpression, Biomarker
umls:C0079744Lymphoma, Large B-Cell, Diffuse84Biomarker, GeneticVariation
umls:C0026764Multiple Myeloma54Biomarker
umls:C0001418Adenocarcinoma41AlteredExpression, Biomarker
umls:C1458155Breast Neoplasms36AlteredExpression, Biomarker, GeneticVariation
umls:C0001430Adenoma27Biomarker
umls:C0033578Prostatic Neoplasms22AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification
umls:C0024305Lymphoma, Non-Hodgkin18AlteredExpression, Biomarker, GeneticVariation
umls:C0009404Colorectal Neoplasms12AlteredExpression, Biomarker
umls:C0014859Esophageal Neoplasms12Biomarker, GeneticVariation
umls:C0039101Sarcoma, Synovial12Biomarker, Therapeutic
umls:C0009375Colonic Neoplasms11AlteredExpression, Biomarker
umls:C0002395Alzheimer Disease7Biomarker, GeneticVariation
umls:C0004096Asthma6Biomarker
umls:C0035126Reperfusion Injury5AlteredExpression, Biomarker, Therapeutic
umls:C0035304Retinal Degeneration5Biomarker, Therapeutic
umls:C0011853Diabetes Mellitus, Experimental4Biomarker
umls:C0004352Autistic Disorder3AlteredExpression, Biomarker
umls:C0011860Diabetes Mellitus, Type 23Biomarker
umls:C0007621Cell Transformation, Neoplastic3Biomarker
umls:C0004509Azoospermia2Biomarker, GeneticVariation
umls:C0018671Head and Neck Neoplasms2Biomarker, GeneticVariation
umls:C0020538Hypertension2Biomarker
umls:C0021841Intestinal Neoplasms2Biomarker
umls:C0032460Polycystic Ovary Syndrome2Biomarker
umls:C0027540Necrosis2Therapeutic
umls:C0027746Nerve Degeneration2Biomarker, Therapeutic
umls:C0242350Erectile Dysfunction1Biomarker
umls:C0206681Adenocarcinoma, Clear Cell1Biomarker
umls:C0276535AIDS-related Kaposi sarcoma1Biomarker
umls:C2937358Cerebral Hemorrhage1Biomarker
umls:C0206637Chondrosarcoma, Mesenchymal1Biomarker
umls:C0162820Dermatitis, Allergic Contact1Biomarker
umls:C0242656Disease Progression1Biomarker
umls:C0016978Gallbladder Neoplasms1Therapeutic
umls:C0023186Learning Disorders1Biomarker
umls:C0023891Liver Cirrhosis, Alcoholic1Biomarker
umls:C0023904Liver Neoplasms, Experimental1Biomarker
umls:C0025261Memory Disorders1Biomarker
umls:C0025568Metaplasia1Biomarker
umls:C0027051Myocardial Infarction1Biomarker
umls:C0029422Osteochondrodysplasias1Biomarker
umls:C0037579Soft Tissue Neoplasms1Therapeutic

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

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Pharmacological information for BCL2
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ApprovedDB01050IbuprofenSmall molecule
Approved|vet_approvedDB01229PaclitaxelSmall molecule
Approved|investigationalDB01248DocetaxelSmall molecule
ApprovedDB01367RasagilineSmall molecule
InvestigationalDB04940E7389Small molecule
InvestigationalDB05281S-8184Small molecule
InvestigationalDB05297DHA-paclitaxelSmall molecule
InvestigationalDB05764ABT-263Small molecule
ApprovedDB11581VenetoclaxSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of BCL2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (LYS,LYS,LEU,SER,GLU,CYS,LEU,ARG,ARG,ILE,GLY,ASP,GLU,LEU,ASP,SER,ASN,MET,GLU,LEU,GLN,ARG,MET,ILE,ALA,ASP)2xa0AA100 M115
IIIPeptide ligand (ACE,ILE,XCP,ILE,ALA,GLN,AJE,LEU,ARG,MH8,ILE,GLY,ASP,MH8,PHE,ASN,XCP,TYR,TYR,ALA,ARG,ARG)5agxAA100 M115
IIIPeptide ligand (ACE,ILE,XCP,ILE,ALA,GLN,AJE,LEU,ARG,MH8,ILE,GLY,ASP,MH8,PHE,ASN,XCP,TYR,TYR,ALA,ARG,ARG)5agxBA100 M115 R129
IIIPeptide ligand (LYS,LYS,LEU,SER,GLU,CYS,LEU,ARG,ARG,ILE,GLY,ASP,GLU,LEU,ASP,SER,ASN,MET,GLU,LEU,GLN,ARG,MET,ILE,ALA,ASP)2xa0BM115
IIIPeptide ligand (ACE,ILE,XCP,ILE,ALA,GLN,AJE,LEU,ARG,MH8,ILE,GLY,ASP,MH8,PHE,ASN,XCP,TYR,TYR,ALA,ARG,ARG)5agwAM115
IIIPeptide ligand (ACE,ILE,XCP,ILE,ALA,GLN,AJE,LEU,ARG,MH8,ILE,GLY,ASP,MH8,PHE,ASN,XCP,TYR,TYR,ALA)5agwBM115 R129


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Conservation information for LBS of BCL2
Multiple alignments for P10415 in multiple species
LBSAA sequence# speciesSpecies
A100LTLRRAGDDFS2Mus musculus, Rattus norvegicus
A100LTLRQAGDDFS1Homo sapiens
A149WGRIVAFFEFG3Homo sapiens, Mus musculus, Rattus norvegicus
D103RRAGDDFSRRY2Mus musculus, Rattus norvegicus
D103RQAGDDFSRRY1Homo sapiens
D111RRYRRDFAEMS3Homo sapiens, Mus musculus, Rattus norvegicus
D140EELFRDGVNWG3Homo sapiens, Mus musculus, Rattus norvegicus
E114RRDFAEMSSQL3Homo sapiens, Mus musculus, Rattus norvegicus
E136ATVVEELFRDG3Homo sapiens, Mus musculus, Rattus norvegicus
E152IVAFFEFGGVM3Homo sapiens, Mus musculus, Rattus norvegicus
E200WDAFVELYGPS3Homo sapiens, Mus musculus, Rattus norvegicus
F104RAGDDFSRRYR2Mus musculus, Rattus norvegicus
F104QAGDDFSRRYR1Homo sapiens
F112RYRRDFAEMSS3Homo sapiens, Mus musculus, Rattus norvegicus
F153VAFFEFGGVMC3Homo sapiens, Mus musculus, Rattus norvegicus
F198GGWDAFVELYG3Homo sapiens, Mus musculus, Rattus norvegicus
G145DGVNWGRIVAF3Homo sapiens, Mus musculus, Rattus norvegicus
L119EMSSQLHLTPF3Homo sapiens, Mus musculus, Rattus norvegicus
L137TVVEELFRDGV3Homo sapiens, Mus musculus, Rattus norvegicus
L201DAFVELYGPSM3Homo sapiens, Mus musculus, Rattus norvegicus
M115RDFAEMSSQLH3Homo sapiens, Mus musculus, Rattus norvegicus
N143FRDGVNWGRIV3Homo sapiens, Mus musculus, Rattus norvegicus
P204VELYGPSMRPL3Homo sapiens, Mus musculus, Rattus norvegicus
Q118AEMSSQLHLTP3Homo sapiens, Mus musculus, Rattus norvegicus
R107DDFSRRYRRDF3Homo sapiens, Mus musculus, Rattus norvegicus
R110SRRYRRDFAEM3Homo sapiens, Mus musculus, Rattus norvegicus
R129FTARGRFATVV3Homo sapiens, Mus musculus, Rattus norvegicus
R139VEELFRDGVNW3Homo sapiens, Mus musculus, Rattus norvegicus
R146GVNWGRIVAFF3Homo sapiens, Mus musculus, Rattus norvegicus
S205ELYGPSMRPLF3Homo sapiens, Mus musculus, Rattus norvegicus
T132RGRFATVVEEL3Homo sapiens, Mus musculus, Rattus norvegicus
V133GRFATVVEELF3Homo sapiens, Mus musculus, Rattus norvegicus
V148NWGRIVAFFEF3Homo sapiens, Mus musculus, Rattus norvegicus
V156FEFGGVMCVES3Homo sapiens, Mus musculus, Rattus norvegicus
W144RDGVNWGRIVA3Homo sapiens, Mus musculus, Rattus norvegicus
Y108DFSRRYRRDFA3Homo sapiens, Mus musculus, Rattus norvegicus
Y202AFVELYGPSMR3Homo sapiens, Mus musculus, Rattus norvegicus


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