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mutLBSgeneDB |
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| Gene summary for BCL2L2 |
 Gene summary |
| Basic gene Info. | Gene symbol | BCL2L2 |
| Gene name | BCL2-like 2 | |
| Synonyms | BCL-W|BCL2-L-2|BCLW|PPP1R51 | |
| Cytomap | UCSC genome browser: 14q11.2-q12 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001199839.1, NM_004050.4, | |
| Description | apoptosis regulator BCL-Wbcl-2-like protein 2protein phosphatase 1, regulatory subunit 51 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 601931 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000129473 | ||
| HPRD : 03569 | ||
| Vega : OTTHUMG00000028738 | ||
| Protein | UniProt: Q92843 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_BCL2L2 | |
| BioGPS: 599 | ||
| Pathway | NCI Pathway Interaction Database: BCL2L2 | |
| KEGG: BCL2L2 | ||
| REACTOME: BCL2L2 | ||
| Pathway Commons: BCL2L2 | ||
| Context | iHOP: BCL2L2 | |
| ligand binding site mutation search in PubMed: BCL2L2 | ||
| UCL Cancer Institute: BCL2L2 | ||
| 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 |
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| Ligand binding site mutations for BCL2L2 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R160 | A159V | 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 BCL2L2 |
| 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 |
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| 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 | R160 | A159V | -0.35996361 |
| (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 BCL2L2 from PDB |
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| Differential gene expression and gene-gene network for BCL2L2 |
| 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 BCL2L2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for BCL2L2 |
| 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. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Investigational | DB05764 | ABT-263 | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of BCL2L2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (ILE,ILE,LYS,ASN,ILE,ALA,ARG,HIS,LEU,ALA,GLN,VAL,GLY,ASP,SER,MET,ASP,ARG,SER,ILE) | 1zy3 | A | R160 |
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| Conservation information for LBS of BCL2L2 |
| Multiple alignments for Q92843 in multiple species |
| LBS | AA sequence | # species | Species | A155 | LYGDGALEEAR | 4 | Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus | A98 | WGRLVAFFVFG | 4 | Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus | D153 | TALYGDGALEE | 4 | Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus | E157 | GDGALEEARRL | 4 | Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus | E52 | RAAGDEFETRF | 4 | Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus | E85 | TQVSDELFQGG | 4 | Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus | F102 | VAFFVFGAALC | 4 | Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus | F53 | AAGDEFETRFR | 4 | Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus | F57 | EFETRFRRTFS | 4 | Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus | F61 | RFRRTFSDLAA | 4 | Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus | G154 | ALYGDGALEEA | 4 | Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus | G94 | GGPNWGRLVAF | 4 | Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus | L150 | AEFTALYGDGA | 4 | Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus | L162 | EEARRLREGNW | 4 | Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus | L64 | RTFSDLAAQLH | 4 | Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus | L68 | DLAAQLHVTPG | 4 | Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus | L86 | QVSDELFQGGP | 4 | Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus | N92 | FQGGPNWGRLV | 4 | Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus | Q67 | SDLAAQLHVTP | 4 | Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus | Q81 | QQRFTQVSDEL | 4 | Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus | Q88 | SDELFQGGPNW | 4 | Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus | R160 | ALEEARRLREG | 4 | Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus | R161 | LEEARRLREGN | 4 | Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus | R56 | DEFETRFRRTF | 4 | Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus | R78 | GSAQQRFTQVS | 4 | Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus | R95 | GPNWGRLVAFF | 4 | Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus | S83 | RFTQVSDELFQ | 4 | Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus | T71 | AQLHVTPGSAQ | 4 | Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus | V82 | QRFTQVSDELF | 4 | Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus | W93 | QGGPNWGRLVA | 4 | Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus | Y151 | EFTALYGDGAL | 4 | Homo sapiens, Mus musculus, Canis lupus familiaris, Bos taurus |
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