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mutLBSgeneDB |
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| Gene summary for CPB2 |
 Gene summary |
| Basic gene Info. | Gene symbol | CPB2 |
| Gene name | carboxypeptidase B2 (plasma) | |
| Synonyms | CPU|PCPB|TAFI | |
| Cytomap | UCSC genome browser: 13q14.11 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001278541.1, NM_001872.4,NM_016413.3, | |
| Description | carboxypeptidase B-like proteincarboxypeptidase B2carboxypeptidase B2 (plasma, carboxypeptidase U)carboxypeptidase Rthrombin-activable fibrinolysis inhibitorthrombin-activatable fibrinolysis inhibitor | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 603101 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000080618 | ||
| HPRD : 04374 | ||
| Vega : OTTHUMG00000016867 | ||
| Protein | UniProt: Q96IY4 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CPB2 | |
| BioGPS: 1361 | ||
| Pathway | NCI Pathway Interaction Database: CPB2 | |
| KEGG: CPB2 | ||
| REACTOME: CPB2 | ||
| Pathway Commons: CPB2 | ||
| Context | iHOP: CPB2 | |
| ligand binding site mutation search in PubMed: CPB2 | ||
| UCL Cancer Institute: CPB2 | ||
| 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 CPB2 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | A365 | P366A | BRCA | 1 | R239 | W238R | UCEC | 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 CPB2 |
| 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 | A365 | P366A | -1.3266223 | R239 | W238R | -1.1501902 |
| (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 CPB2 from PDB |
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| Differential gene expression and gene-gene network for CPB2 |
| 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 CPB2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0002453 | Amenorrhea | 1 | Biomarker |
| umls:C0028754 | Obesity | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CPB2 |
| 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 | DB05712 | AZD-9684 | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CPB2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | 2B8 | (5R)-5-(3-AMINOPROPYL)-1-PROPYL-4,5,6,7-TETRAHYDRO-1H- BENZIMIDAZOLE-5-CARBOXYLIC ACID | 4p10 | A | A365 |
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| Conservation information for LBS of CPB2 |
| Multiple alignments for Q96IY4 in multiple species |
| LBS | AA sequence | # species | Species | A365 | ESLYLAPGGSD | 3 | Bos taurus, Mus musculus, Rattus norvegicus | A365 | ETLYLAPGGGD | 1 | Homo sapiens | D370 | APGGSDDWIYD | 3 | Bos taurus, Mus musculus, Rattus norvegicus | D370 | APGGGDDWIYD | 1 | Homo sapiens | E184 | GIHAREWISPA | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | E385 | YSFTIELRDTG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E385 | YSFTFELRDKG | 1 | Bos taurus | H181 | IDCGIHAREWI | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | H310 | AYISMHSYSQQ | 2 | Mus musculus, Rattus norvegicus | H310 | AYISMHSYSQH | 1 | Homo sapiens | H310 | AYISMHSYSQK | 1 | Bos taurus | L362 | SGSESLYLAPG | 3 | Bos taurus, Mus musculus, Rattus norvegicus | L362 | HGSETLYLAPG | 1 | Homo sapiens | N256 | VGTDLNRNFAS | 3 | Bos taurus, Mus musculus, Rattus norvegicus | N256 | IGTDLNRNFAS | 1 | Homo sapiens | R239 | KNRMWRKNRSF | 1 | Homo sapiens | R239 | KDRMWRKNRSL | 1 | Bos taurus | R239 | KNRMWRKNRSA | 1 | Mus musculus | R239 | KNRMWRKNRSV | 1 | Rattus norvegicus | R257 | GTDLNRNFASK | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | S311 | YISMHSYSQQI | 2 | Mus musculus, Rattus norvegicus | S311 | YISMHSYSQHI | 1 | Homo sapiens | S311 | YISMHSYSQKI | 1 | Bos taurus | S321 | ILFPYSYNRSK | 2 | Mus musculus, Rattus norvegicus | S321 | IVFPYSYTRSK | 1 | Homo sapiens | S321 | IVFPYSYSRSR | 1 | Bos taurus | T383 | IKYSFTIELRD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T383 | IKYSFTFELRD | 1 | Bos taurus | Y312 | ISMHSYSQQIL | 2 | Mus musculus, Rattus norvegicus | Y312 | ISMHSYSQHIV | 1 | Homo sapiens | Y312 | ISMHSYSQKIV | 1 | Bos taurus | Y363 | GSESLYLAPGG | 3 | Bos taurus, Mus musculus, Rattus norvegicus | Y363 | GSETLYLAPGG | 1 | Homo sapiens |
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