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mutLBSgeneDB |
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| Gene summary for SERPINB2 |
 Gene summary |
| Basic gene Info. | Gene symbol | SERPINB2 |
| Gene name | serpin peptidase inhibitor, clade B (ovalbumin), member 2 | |
| Synonyms | HsT1201|PAI|PAI-2|PAI2|PLANH2 | |
| Cytomap | UCSC genome browser: 18q21.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001143818.1, NM_002575.2, | |
| Description | monocyte Arg-serpinplacental plasminogen activator inhibitorplasminogen activator inhibitor 2plasminogen activator inhibitor, type II (arginine-serpin)serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2serpin B2urokinase inhibit | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 173390 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000197632 | ||
| HPRD : 01420 | ||
| Vega : OTTHUMG00000060592 | ||
| Protein | UniProt: P05120 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SERPINB2 | |
| BioGPS: 5055 | ||
| Pathway | NCI Pathway Interaction Database: SERPINB2 | |
| KEGG: SERPINB2 | ||
| REACTOME: SERPINB2 | ||
| Pathway Commons: SERPINB2 | ||
| Context | iHOP: SERPINB2 | |
| ligand binding site mutation search in PubMed: SERPINB2 | ||
| UCL Cancer Institute: SERPINB2 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to 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 SERPINB2 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | T194 | T194I | COAD | 2 | N347 | R346K | BLCA | 1 | Y203 | Y203C | COAD | 1 | K335 | K335Q | LUAD | 1 | N363 | E365D | LUAD | 1 | F408 | F409I | LUSC | 1 | G206 | G206R | SKCM | 1 | T38 | M39I | SKCM | 1 | F350 | F350L | SKCM | 1 | G206 | G206E | SKCM | 1 | F204 | F204C | STAD | 1 | M343 | S344L | STAD | 1 | S34 | S34I | UCEC | 1 | I35 | S36A | 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 SERPINB2 |
| 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 | M343 | S344L | 0.77810074 | K335 | K335Q | 0.19327781 | N363 | E365D | -1.287479 | N347 | R346K | -1.1678855 | F204 | F204C | -1.0185705 | F350 | F350L | -0.71905389 | I35 | S36A | -0.66535036 | Y203 | Y203C | -0.63863272 | T38 | M39I | -0.59044478 | G206 | G206E | -0.41171111 | F408 | F409I | -0.41102965 | G206 | G206R | -0.37154003 | S34 | S34I | -0.22030073 | T194 | T194I | -0.19864496 |
| (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 SERPINB2 from PDB |
| PDB ID | PDB title | PDB structure | 1BY7 | HUMAN PLASMINOGEN ACTIVATOR INHIBITOR-2. LOOP (66-98) DELETION MUTANT |  |
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| Differential gene expression and gene-gene network for SERPINB2 |
| 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 SERPINB2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0031117 | Peripheral Nervous System Diseases | 2 | Biomarker |
| umls:C1458155 | Breast Neoplasms | 1 | Biomarker |
| umls:C0400966 | Non-alcoholic Fatty Liver Disease | 1 | Biomarker |
| umls:C0038356 | Stomach Neoplasms | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for SERPINB2 |
| 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 |
| Approved|investigational|withdrawn | DB00013 | Urokinase | Biotech |  |
| Approved | DB00031 | Tenecteplase | Biotech |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of SERPINB2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (ACE,THR,GLU,ALA,ALA,ALA,GLY,THR,GLY,GLY,VAL,MET,THR,GLY,ARG) | 1jrr | A | S34 I35 T38 T194 Y203 F204 G206 K335 M343 N347 F350 N363 F408 | III | Peptide ligand (ACE,THR,GLU,ALA,ALA,ALA,GLY,ASP,GLY,GLY,VAL,MET,THR,GLY,ARG) | 2arq | A | S34 I35 T38 T194 Y203 F204 G206 K335 M343 N347 F350 N363 F408 | III | Peptide ligand (ACE,THR,GLU,ALA,ALA,ALA,GLY,MET,GLY,GLY,VAL,MET,THR,GLY,ARG) | 2arr | A | S34 I35 T38 T194 Y203 F204 G206 K335 M343 N347 F350 N363 F408 |
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| Conservation information for LBS of SERPINB2 |
| Multiple alignments for P05120 in multiple species |
| LBS | AA sequence | # species | Species | A201 | MVLVNAVYFKG | 2 | Homo sapiens, Mus musculus | A201 | MVLVNTIYFKG | 1 | Rattus norvegicus | A338 | FNKGRANFSGM | 1 | Homo sapiens | A338 | FNKGKANFSGM | 1 | Mus musculus | A338 | FNKGKADFSGM | 1 | Rattus norvegicus | A358 | EVFHQAMVDVN | 1 | Homo sapiens | A358 | EVFHQASVDVT | 1 | Mus musculus | A358 | EVFHQATVDVN | 1 | Rattus norvegicus | D193 | GSVDEDTKMVL | 2 | Mus musculus, Rattus norvegicus | D193 | GSVDGDTRMVL | 1 | Homo sapiens | D348 | MSERNDLFLSE | 2 | Homo sapiens, Mus musculus | D348 | MSESNDLFLSE | 1 | Rattus norvegicus | D361 | HQAMVDVNEEG | 1 | Homo sapiens | D361 | HQASVDVTEEG | 1 | Mus musculus | D361 | HQATVDVNEEG | 1 | Rattus norvegicus | E353 | DLFLSEVFHQA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F204 | VNAVYFKGKWK | 2 | Homo sapiens, Mus musculus | F204 | VNTIYFKGRWK | 1 | Rattus norvegicus | F340 | KGRANFSGMSE | 1 | Homo sapiens | F340 | KGKANFSGMSE | 1 | Mus musculus | F340 | KGKADFSGMSE | 1 | Rattus norvegicus | F350 | ERNDLFLSEVF | 2 | Homo sapiens, Mus musculus | F350 | ESNDLFLSEVF | 1 | Rattus norvegicus | F355 | FLSEVFHQAMV | 1 | Homo sapiens | F355 | FLSEVFHQASV | 1 | Mus musculus | F355 | FLSEVFHQATV | 1 | Rattus norvegicus | F408 | TNCILFFGRFS | 1 | Homo sapiens | F408 | THTILFVGRFS | 1 | Mus musculus | F408 | TRTILFVGRFS | 1 | Rattus norvegicus | G206 | AVYFKGKWKTP | 2 | Homo sapiens, Mus musculus | G206 | TIYFKGRWKTP | 1 | Rattus norvegicus | H356 | LSEVFHQAMVD | 1 | Homo sapiens | H356 | LSEVFHQASVD | 1 | Mus musculus | H356 | LSEVFHQATVD | 1 | Rattus norvegicus | I181 | QTKGEIPNLLP | 2 | Mus musculus, Rattus norvegicus | I181 | QTKGKIPNLLP | 1 | Homo sapiens | I35 | ISPWSISSTLA | 2 | Mus musculus, Rattus norvegicus | I35 | LSPWSISSTMA | 1 | Homo sapiens | K180 | TQTKGEIPNLL | 2 | Mus musculus, Rattus norvegicus | K180 | TQTKGKIPNLL | 1 | Homo sapiens | K205 | NAVYFKGKWKT | 2 | Homo sapiens, Mus musculus | K205 | NTIYFKGRWKT | 1 | Rattus norvegicus | K335 | EDAFNKGRANF | 1 | Homo sapiens | K335 | EDAFNKGKANF | 1 | Mus musculus | K335 | EDAFNKGKADF | 1 | Rattus norvegicus | L184 | GEIPNLLPEGS | 2 | Mus musculus, Rattus norvegicus | L184 | GKIPNLLPEGS | 1 | Homo sapiens | L198 | DTRMVLVNAVY | 1 | Homo sapiens | L198 | DTKMVLVNAVY | 1 | Mus musculus | L198 | DTKMVLVNTIY | 1 | Rattus norvegicus | L349 | SERNDLFLSEV | 2 | Homo sapiens, Mus musculus | L349 | SESNDLFLSEV | 1 | Rattus norvegicus | L351 | RNDLFLSEVFH | 2 | Homo sapiens, Mus musculus | L351 | SNDLFLSEVFH | 1 | Rattus norvegicus | M196 | DGDTRMVLVNA | 1 | Homo sapiens | M196 | DEDTKMVLVNA | 1 | Mus musculus | M196 | DEDTKMVLVNT | 1 | Rattus norvegicus | M343 | ANFSGMSERND | 2 | Homo sapiens, Mus musculus | M343 | ADFSGMSESND | 1 | Rattus norvegicus | M359 | VFHQAMVDVNE | 1 | Homo sapiens | M359 | VFHQASVDVTE | 1 | Mus musculus | M359 | VFHQATVDVNE | 1 | Rattus norvegicus | N200 | RMVLVNAVYFK | 1 | Homo sapiens | N200 | KMVLVNAVYFK | 1 | Mus musculus | N200 | KMVLVNTIYFK | 1 | Rattus norvegicus | N347 | GMSERNDLFLS | 2 | Homo sapiens, Mus musculus | N347 | GMSESNDLFLS | 1 | Rattus norvegicus | N363 | AMVDVNEEGTE | 1 | Homo sapiens | N363 | ASVDVTEEGTV | 1 | Mus musculus | N363 | ATVDVNEEGTV | 1 | Rattus norvegicus | Q357 | SEVFHQAMVDV | 1 | Homo sapiens | Q357 | SEVFHQASVDV | 1 | Mus musculus | Q357 | SEVFHQATVDV | 1 | Rattus norvegicus | R195 | VDEDTKMVLVN | 2 | Mus musculus, Rattus norvegicus | R195 | VDGDTRMVLVN | 1 | Homo sapiens | S31 | QNIFISPWSIS | 2 | Mus musculus, Rattus norvegicus | S31 | QNLFLSPWSIS | 1 | Homo sapiens | S34 | FISPWSISSTL | 2 | Mus musculus, Rattus norvegicus | S34 | FLSPWSISSTM | 1 | Homo sapiens | S352 | NDLFLSEVFHQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T194 | SVDEDTKMVLV | 2 | Mus musculus, Rattus norvegicus | T194 | SVDGDTRMVLV | 1 | Homo sapiens | T38 | WSISSTMAMVY | 1 | Homo sapiens | T38 | WSISSTLAIVL | 1 | Mus musculus | T38 | WSISSTLAIVF | 1 | Rattus norvegicus | V197 | GDTRMVLVNAV | 1 | Homo sapiens | V197 | EDTKMVLVNAV | 1 | Mus musculus | V197 | EDTKMVLVNTI | 1 | Rattus norvegicus | V199 | TRMVLVNAVYF | 1 | Homo sapiens | V199 | TKMVLVNAVYF | 1 | Mus musculus | V199 | TKMVLVNTIYF | 1 | Rattus norvegicus | V202 | VLVNAVYFKGK | 2 | Homo sapiens, Mus musculus | V202 | VLVNTIYFKGR | 1 | Rattus norvegicus | V354 | LFLSEVFHQAM | 1 | Homo sapiens | V354 | LFLSEVFHQAS | 1 | Mus musculus | V354 | LFLSEVFHQAT | 1 | Rattus norvegicus | V360 | FHQAMVDVNEE | 1 | Homo sapiens | V360 | FHQASVDVTEE | 1 | Mus musculus | V360 | FHQATVDVNEE | 1 | Rattus norvegicus | V362 | QAMVDVNEEGT | 1 | Homo sapiens | V362 | QASVDVTEEGT | 1 | Mus musculus | V362 | QATVDVNEEGT | 1 | Rattus norvegicus | W208 | YFKGKWKTPFE | 2 | Homo sapiens, Mus musculus | W208 | YFKGRWKTPFQ | 1 | Rattus norvegicus | Y203 | LVNAVYFKGKW | 2 | Homo sapiens, Mus musculus | Y203 | LVNTIYFKGRW | 1 | Rattus norvegicus | Y258 | ILELPYAGDVS | 1 | Homo sapiens | Y258 | ILELPHTGNIS | 1 | Mus musculus | Y258 | ILELPYIGNIS | 1 | Rattus norvegicus |
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