mutLBSgeneDB |
Gene summary for BCL2 |
Gene summary |
Basic gene Info. | Gene symbol | BCL2 |
Gene name | B-cell CLL/lymphoma 2 | |
Synonyms | Bcl-2|PPP1R50 | |
Cytomap | UCSC genome browser: 18q21.3 | |
Type of gene | protein-coding | |
RefGenes | NM_000633.2, NM_000657.2, | |
Description | apoptosis regulator Bcl-2protein phosphatase 1, regulatory subunit 50 | |
Modification date | 20141222 | |
dbXrefs | MIM : 151430 | |
HGNC : HGNC | ||
HPRD : 01045 | ||
Protein | UniProt: P10415 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_BCL2 | |
BioGPS: 596 | ||
Pathway | NCI Pathway Interaction Database: BCL2 | |
KEGG: BCL2 | ||
REACTOME: BCL2 | ||
Pathway Commons: BCL2 | ||
Context | iHOP: BCL2 | |
ligand binding site mutation search in PubMed: BCL2 | ||
UCL Cancer Institute: BCL2 | ||
Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID | GO:0000209 | protein polyubiquitination | 16717086 | GO:0006915 | apoptotic process | 36599 | GO:0008625 | extrinsic apoptotic signaling pathway via death domain receptors | 10597216 | GO:0009636 | response to toxic substance | 16307838 | GO:0010039 | response to iron ion | 11264898 | GO:0022898 | regulation of transmembrane transporter activity | 9219694 | GO:0030307 | positive regulation of cell growth | 8022822 | GO:0032848 | negative regulation of cellular pH reduction | 10506221 | GO:0034097 | response to cytokine | 9184696 | GO:0035094 | response to nicotine | 12421819 | GO:0042100 | B cell proliferation | 1373874 | GO:0042493 | response to drug | 36599 | GO:0043066 | negative regulation of apoptotic process | 10506221 | GO:0043496 | regulation of protein homodimerization activity | 9111042 | GO:0043497 | regulation of protein heterodimerization activity | 9111042 | GO:0043524 | negative regulation of neuron apoptotic process | 7546744 | GO:0051607 | defense response to virus | 10620603 | GO:0051924 | regulation of calcium ion transport | 8022822 | GO:0055085 | transmembrane transport | 9219694 | GO:0070059 | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress | 15776018 | GO:2001243 | negative regulation of intrinsic apoptotic signaling pathway | 11684014 |
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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 |
LBS | AAchange of nsSNV | Cancer type | # samples | M115 | M115I | LUAD | 1 | R129 | G128E | STAD | 1 | A100 | R98L | STAD | 1 |
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. |
LBS | AAchange of nsSNV | Relative stability change | A100 | R98L | -0.54076755 | M115 | M115I | -0.34036724 | R129 | G128E | -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) |
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Phenotype information for BCL2 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0024301 | Lymphoma, Follicular | 346 | AlteredExpression, Biomarker, GeneticVariation |
umls:C0023434 | Leukemia, Lymphocytic, Chronic, B-Cell | 165 | AlteredExpression, Biomarker, GeneticVariation |
umls:C0007097 | Carcinoma | 121 | AlteredExpression, Biomarker |
umls:C0023467 | Leukemia, Myeloid, Acute | 85 | AlteredExpression, Biomarker |
umls:C0079744 | Lymphoma, Large B-Cell, Diffuse | 84 | Biomarker, GeneticVariation |
umls:C0026764 | Multiple Myeloma | 54 | Biomarker |
umls:C0001418 | Adenocarcinoma | 41 | AlteredExpression, Biomarker |
umls:C1458155 | Breast Neoplasms | 36 | AlteredExpression, Biomarker, GeneticVariation |
umls:C0001430 | Adenoma | 27 | Biomarker |
umls:C0033578 | Prostatic Neoplasms | 22 | AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification |
umls:C0024305 | Lymphoma, Non-Hodgkin | 18 | AlteredExpression, Biomarker, GeneticVariation |
umls:C0009404 | Colorectal Neoplasms | 12 | AlteredExpression, Biomarker |
umls:C0014859 | Esophageal Neoplasms | 12 | Biomarker, GeneticVariation |
umls:C0039101 | Sarcoma, Synovial | 12 | Biomarker, Therapeutic |
umls:C0009375 | Colonic Neoplasms | 11 | AlteredExpression, Biomarker |
umls:C0002395 | Alzheimer Disease | 7 | Biomarker, GeneticVariation |
umls:C0004096 | Asthma | 6 | Biomarker |
umls:C0035126 | Reperfusion Injury | 5 | AlteredExpression, Biomarker, Therapeutic |
umls:C0035304 | Retinal Degeneration | 5 | Biomarker, Therapeutic |
umls:C0011853 | Diabetes Mellitus, Experimental | 4 | Biomarker |
umls:C0004352 | Autistic Disorder | 3 | AlteredExpression, Biomarker |
umls:C0011860 | Diabetes Mellitus, Type 2 | 3 | Biomarker |
umls:C0007621 | Cell Transformation, Neoplastic | 3 | Biomarker |
umls:C0004509 | Azoospermia | 2 | Biomarker, GeneticVariation |
umls:C0018671 | Head and Neck Neoplasms | 2 | Biomarker, GeneticVariation |
umls:C0020538 | Hypertension | 2 | Biomarker |
umls:C0021841 | Intestinal Neoplasms | 2 | Biomarker |
umls:C0032460 | Polycystic Ovary Syndrome | 2 | Biomarker |
umls:C0027540 | Necrosis | 2 | Therapeutic |
umls:C0027746 | Nerve Degeneration | 2 | Biomarker, Therapeutic |
umls:C0242350 | Erectile Dysfunction | 1 | Biomarker |
umls:C0206681 | Adenocarcinoma, Clear Cell | 1 | Biomarker |
umls:C0276535 | AIDS-related Kaposi sarcoma | 1 | Biomarker |
umls:C2937358 | Cerebral Hemorrhage | 1 | Biomarker |
umls:C0206637 | Chondrosarcoma, Mesenchymal | 1 | Biomarker |
umls:C0162820 | Dermatitis, Allergic Contact | 1 | Biomarker |
umls:C0242656 | Disease Progression | 1 | Biomarker |
umls:C0016978 | Gallbladder Neoplasms | 1 | Therapeutic |
umls:C0023186 | Learning Disorders | 1 | Biomarker |
umls:C0023891 | Liver Cirrhosis, Alcoholic | 1 | Biomarker |
umls:C0023904 | Liver Neoplasms, Experimental | 1 | Biomarker |
umls:C0025261 | Memory Disorders | 1 | Biomarker |
umls:C0025568 | Metaplasia | 1 | Biomarker |
umls:C0027051 | Myocardial Infarction | 1 | Biomarker |
umls:C0029422 | Osteochondrodysplasias | 1 | Biomarker |
umls:C0037579 | Soft Tissue Neoplasms | 1 | Therapeutic |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype 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 status | DrugBank ID | Name | Type | Drug structure |
Approved | DB01050 | Ibuprofen | Small molecule | |
Approved|vet_approved | DB01229 | Paclitaxel | Small molecule | |
Approved|investigational | DB01248 | Docetaxel | Small molecule | |
Approved | DB01367 | Rasagiline | Small molecule | |
Investigational | DB04940 | E7389 | Small molecule | |
Investigational | DB05281 | S-8184 | Small molecule | |
Investigational | DB05297 | DHA-paclitaxel | Small molecule | |
Investigational | DB05764 | ABT-263 | Small molecule | |
Approved | DB11581 | Venetoclax | Small molecule |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of BCL2 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide 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) | 2xa0 | A | A100 M115 | III | Peptide ligand (ACE,ILE,XCP,ILE,ALA,GLN,AJE,LEU,ARG,MH8,ILE,GLY,ASP,MH8,PHE,ASN,XCP,TYR,TYR,ALA,ARG,ARG) | 5agx | A | A100 M115 | III | Peptide ligand (ACE,ILE,XCP,ILE,ALA,GLN,AJE,LEU,ARG,MH8,ILE,GLY,ASP,MH8,PHE,ASN,XCP,TYR,TYR,ALA,ARG,ARG) | 5agx | B | A100 M115 R129 | III | Peptide 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) | 2xa0 | B | M115 | III | Peptide ligand (ACE,ILE,XCP,ILE,ALA,GLN,AJE,LEU,ARG,MH8,ILE,GLY,ASP,MH8,PHE,ASN,XCP,TYR,TYR,ALA,ARG,ARG) | 5agw | A | M115 | III | Peptide ligand (ACE,ILE,XCP,ILE,ALA,GLN,AJE,LEU,ARG,MH8,ILE,GLY,ASP,MH8,PHE,ASN,XCP,TYR,TYR,ALA) | 5agw | B | M115 R129 |
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Conservation information for LBS of BCL2 |
Multiple alignments for P10415 in multiple species |
LBS | AA sequence | # species | Species | A100 | LTLRRAGDDFS | 2 | Mus musculus, Rattus norvegicus | A100 | LTLRQAGDDFS | 1 | Homo sapiens | A149 | WGRIVAFFEFG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D103 | RRAGDDFSRRY | 2 | Mus musculus, Rattus norvegicus | D103 | RQAGDDFSRRY | 1 | Homo sapiens | D111 | RRYRRDFAEMS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D140 | EELFRDGVNWG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E114 | RRDFAEMSSQL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E136 | ATVVEELFRDG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E152 | IVAFFEFGGVM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E200 | WDAFVELYGPS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F104 | RAGDDFSRRYR | 2 | Mus musculus, Rattus norvegicus | F104 | QAGDDFSRRYR | 1 | Homo sapiens | F112 | RYRRDFAEMSS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F153 | VAFFEFGGVMC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F198 | GGWDAFVELYG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G145 | DGVNWGRIVAF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L119 | EMSSQLHLTPF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L137 | TVVEELFRDGV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L201 | DAFVELYGPSM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M115 | RDFAEMSSQLH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N143 | FRDGVNWGRIV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P204 | VELYGPSMRPL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q118 | AEMSSQLHLTP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R107 | DDFSRRYRRDF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R110 | SRRYRRDFAEM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R129 | FTARGRFATVV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R139 | VEELFRDGVNW | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R146 | GVNWGRIVAFF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S205 | ELYGPSMRPLF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T132 | RGRFATVVEEL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V133 | GRFATVVEELF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V148 | NWGRIVAFFEF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V156 | FEFGGVMCVES | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W144 | RDGVNWGRIVA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y108 | DFSRRYRRDFA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y202 | AFVELYGPSMR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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