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mutLBSgeneDB |
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| Gene summary for GZMB |
 Gene summary |
| Basic gene Info. | Gene symbol | GZMB |
| Gene name | granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) | |
| Synonyms | CCPI|CGL-1|CGL1|CSP-B|CSPB|CTLA1|CTSGL1|HLP|SECT | |
| Cytomap | UCSC genome browser: 14q11.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_004131.4, | |
| Description | C11CTLA-1T-cell serine protease 1-3Ecathepsin G-like 1cytotoxic T-lymphocyte proteinase 2cytotoxic serine protease Bfragmentin 2fragmentin-2granzyme Bhuman lymphocyte protein | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 123910 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000100453 | ||
| HPRD : 00476 | ||
| Vega : OTTHUMG00000029369 | ||
| Protein | UniProt: P10144 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_GZMB | |
| BioGPS: 3002 | ||
| Pathway | NCI Pathway Interaction Database: GZMB | |
| KEGG: GZMB | ||
| REACTOME: GZMB | ||
| Pathway Commons: GZMB | ||
| Context | iHOP: GZMB | |
| ligand binding site mutation search in PubMed: GZMB | ||
| UCL Cancer Institute: GZMB | ||
| 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 GZMB |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | D191 | D191G | COAD | 1 | G201 | G201R | HNSC | 1 | E193,D191 | P192A | LUAD | 1 | R228 | P227L | LUAD | 1 | F105 | N104K | SKCM | 1 | F199 | S198Y | SKCM | 1 | S203 | S203Y | 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 GZMB |
| 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 | D191 | D191G | -1.2790152 | F105 | N104K | -0.88294111 | F199 | S198Y | -0.72897514 | E193 | P192A | -0.64206114 | D191 | P192A | -0.64206114 | S203 | S203Y | -0.29445017 | G201 | G201R | -0.24801166 | R228 | P227L | -0.24189493 |
| (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 GZMB from PDB |
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| Differential gene expression and gene-gene network for GZMB |
| 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 GZMB |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1458155 | Breast Neoplasms | 2 | Biomarker |
| umls:C0019158 | Hepatitis | 2 | Biomarker |
| umls:C0004352 | Autistic Disorder | 1 | Biomarker |
| umls:C0013182 | Drug Hypersensitivity | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for GZMB |
| 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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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of GZMB go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of GZMB |
| Multiple alignments for P10144 in multiple species |
| LBS | AA sequence | # species | Species | D191 | EICAGDPKIKR | 2 | Rattus norvegicus, Rattus norvegicus | D191 | ELCVGDPEIKK | 1 | Homo sapiens | D202 | ASFRGDSGGPL | 2 | Rattus norvegicus, Rattus norvegicus | D202 | TSFKGDSGGPL | 1 | Homo sapiens | E193 | CAGDPKIKRAS | 2 | Rattus norvegicus, Rattus norvegicus | E193 | CVGDPEIKKTS | 1 | Homo sapiens | E83 | NIKEQEKMQQI | 2 | Rattus norvegicus, Rattus norvegicus | E83 | NIKEQEPTQQF | 1 | Homo sapiens | F105 | YNSKTISNDIM | 2 | Rattus norvegicus, Rattus norvegicus | F105 | YNPKNFSNDIM | 1 | Homo sapiens | F199 | IKRASFRGDSG | 2 | Rattus norvegicus, Rattus norvegicus | F199 | IKKTSFKGDSG | 1 | Homo sapiens | G201 | RASFRGDSGGP | 2 | Rattus norvegicus, Rattus norvegicus | G201 | KTSFKGDSGGP | 1 | Homo sapiens | G220 | GIVSYGQNDGS | 2 | Rattus norvegicus, Rattus norvegicus | G220 | GIVSYGRNNGM | 1 | Homo sapiens | H156 | GPMGKYSDTLQ | 2 | Rattus norvegicus, Rattus norvegicus | H156 | APLGKHSHTLQ | 1 | Homo sapiens | H158 | MGKYSDTLQEV | 2 | Rattus norvegicus, Rattus norvegicus | H158 | LGKHSHTLQEV | 1 | Homo sapiens | H30 | HEAKPHSRPYM | 3 | Homo sapiens, Rattus norvegicus, Rattus norvegicus | H64 | VLTAAHCSGSK | 2 | Rattus norvegicus, Rattus norvegicus | H64 | VLTAAHCWGSS | 1 | Homo sapiens | K200 | KRASFRGDSGG | 2 | Rattus norvegicus, Rattus norvegicus | K200 | KKTSFKGDSGG | 1 | Homo sapiens | L177 | KCESYLKNYFD | 2 | Rattus norvegicus, Rattus norvegicus | L177 | KCESDLRHYYD | 1 | Homo sapiens | N222 | VSYGQNDGSTP | 2 | Rattus norvegicus, Rattus norvegicus | N222 | VSYGRNNGMPP | 1 | Homo sapiens | R221 | IVSYGQNDGST | 2 | Rattus norvegicus, Rattus norvegicus | R221 | IVSYGRNNGMP | 1 | Homo sapiens | R228 | DGSTPRAFTKV | 2 | Rattus norvegicus, Rattus norvegicus | R228 | NGMPPRACTKV | 1 | Homo sapiens | S203 | SFRGDSGGPLV | 2 | Rattus norvegicus, Rattus norvegicus | S203 | SFKGDSGGPLV | 1 | Homo sapiens | S218 | AAGIVSYGQND | 2 | Rattus norvegicus, Rattus norvegicus | S218 | AQGIVSYGRNN | 1 | Homo sapiens | Y180 | SYLKNYFDKAN | 2 | Rattus norvegicus, Rattus norvegicus | Y180 | SDLRHYYDSTI | 1 | Homo sapiens | Y219 | AGIVSYGQNDG | 2 | Rattus norvegicus, Rattus norvegicus | Y219 | QGIVSYGRNNG | 1 | Homo sapiens |
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