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mutLBSgeneDB |
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| Gene summary for S100B |
 Gene summary |
| Basic gene Info. | Gene symbol | S100B |
| Gene name | S100 calcium binding protein B | |
| Synonyms | NEF|S100|S100-B|S100beta | |
| Cytomap | UCSC genome browser: 21q22.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_006272.2, | |
| Description | S-100 calcium-binding protein, beta chainS-100 protein subunit betaS100 calcium-binding protein, beta (neural)protein S100-B | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 176990 | |
| HGNC : HGNC | ||
| HPRD : 01505 | ||
| Protein | UniProt: P04271 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_S100B | |
| BioGPS: 6285 | ||
| Pathway | NCI Pathway Interaction Database: S100B | |
| KEGG: S100B | ||
| REACTOME: S100B | ||
| Pathway Commons: S100B | ||
| Context | iHOP: S100B | |
| ligand binding site mutation search in PubMed: S100B | ||
| UCL Cancer Institute: S100B | ||
| 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 | GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling | 15033494 |
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| Ligand binding site mutations for S100B |
| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | E32 | E32K | UCEC | 2 | F44 | F44L | COAD | 1 | E22 | E22D | LUAD | 1 | F77 | F77S | LUSC | 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 S100B |
| 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 | F77 | F77S | -1.4653615 | E32 | E32K | -1.0729071 | F44 | F44L | -0.64163424 | E22 | E22D | -0.045713483 |
| (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 S100B from PDB |
| PDB ID | PDB title | PDB structure | 3CZT | Crystal Structure of S100B in the Calcium and Zinc Loaded State at pH 9 |  |
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| Differential gene expression and gene-gene network for S100B |
| 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 S100B |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0013080 | Down Syndrome | 16 | AlteredExpression, Biomarker |
| umls:C0270611 | Brain Injuries | 6 | AlteredExpression, Biomarker, Therapeutic |
| umls:C0027051 | Myocardial Infarction | 5 | Biomarker |
| umls:C0005586 | Bipolar Disorder | 4 | Biomarker, GeneticVariation |
| umls:C1527311 | Brain Edema | 2 | Biomarker |
| umls:C0018944 | Hematoma | 2 | Biomarker |
| umls:C2937358 | Cerebral Hemorrhage | 2 | AlteredExpression, Biomarker |
| umls:C0012644 | Disease Models, Animal | 1 | Biomarker |
| umls:C0751895 | Vasospasm, Intracranial | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for S100B |
| 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 | DB00768 | Olopatadine | Small molecule |  |
| Nutraceutical | DB01373 | Calcium | Small molecule |  |
| Experimental | DB04464 | N-Formylmethionine | Small molecule |  |
| Investigational | DB05343 | ONO-2506 | Small molecule |  |
| Experimental | DB06941 | (Z)-2-[2-(4-methylpiperazin-1-yl)benzyl]diazenecarbothioamide | Small molecule |  |
| Experimental | DB07004 | 2-[(5-hex-1-yn-1-ylfuran-2-yl)carbonyl]-N-methylhydrazinecarbothioamide | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of S100B go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CA | CALCIUM(2+) | 4xyn | A | E22 E32 | CA | CALCIUM(2+) | 4xyn | B | E22 E32 | CA | CALCIUM(2+) | 4xyn | C | E22 E32 | CA | CALCIUM(2+) | 4xyn | D | E22 E32 | III | Peptide ligand (ARG,THR,GLU,ALA,TRP,LYS,VAL,LEU,SER) | 4xyn | A | F44 F77 |
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| Conservation information for LBS of S100B |
| Multiple alignments for P04271 in multiple species |
| LBS | AA sequence | # species | Species | A84 | AMVTTACHEFF | 2 | Homo sapiens, Mus musculus | A84 | SMVTTACHEFF | 1 | Rattus norvegicus | A84 | AMITTACHEFF | 1 | Bos taurus | C85 | MVTTACHEFFE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C85 | MITTACHEFFE | 1 | Bos taurus | D24 | SGREGDKHKLK | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D62 | VMETLDEDGDG | 2 | Mus musculus, Rattus norvegicus | D62 | VMETLDNDGDG | 1 | Homo sapiens | D62 | VMETLDSDGDG | 1 | Bos taurus | D64 | ETLDEDGDGEC | 2 | Mus musculus, Rattus norvegicus | D64 | ETLDNDGDGEC | 1 | Homo sapiens | D64 | ETLDSDGDGEC | 1 | Bos taurus | D66 | LDEDGDGECDF | 2 | Mus musculus, Rattus norvegicus | D66 | LDNDGDGECDF | 1 | Homo sapiens | D66 | LDSDGDGECDF | 1 | Bos taurus | E22 | QYSGREGDKHK | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | E32 | KLKKSELKELI | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | E46 | LSHFLEEIKEQ | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | E47 | SHFLEEIKEQE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | E68 | EDGDGECDFQE | 2 | Mus musculus, Rattus norvegicus | E68 | NDGDGECDFQE | 1 | Homo sapiens | E68 | SDGDGECDFQE | 1 | Bos taurus | E73 | ECDFQEFMAFV | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | E87 | TTACHEFFEHE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | F44 | NELSHFLEEIK | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | F77 | QEFMAFVAMVT | 2 | Homo sapiens, Mus musculus | F77 | QEFMAFVSMVT | 1 | Rattus norvegicus | F77 | QEFMAFVAMIT | 1 | Bos taurus | F88 | TACHEFFEHE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | G23 | YSGREGDKHKL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | G67 | DEDGDGECDFQ | 2 | Mus musculus, Rattus norvegicus | G67 | DNDGDGECDFQ | 1 | Homo sapiens | G67 | DSDGDGECDFQ | 1 | Bos taurus | H43 | NNELSHFLEEI | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | I48 | HFLEEIKEQEV | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | K27 | EGDKHKLKKSE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | K49 | FLEEIKEQEVV | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | K56 | QEVVDKVMETL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | L45 | ELSHFLEEIKE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | L61 | KVMETLDEDGD | 2 | Mus musculus, Rattus norvegicus | L61 | KVMETLDNDGD | 1 | Homo sapiens | L61 | KVMETLDSDGD | 1 | Bos taurus | M80 | MAFVAMVTTAC | 2 | Homo sapiens, Mus musculus | M80 | MAFVSMVTTAC | 1 | Rattus norvegicus | M80 | MAFVAMITTAC | 1 | Bos taurus | N63 | METLDEDGDGE | 2 | Mus musculus, Rattus norvegicus | N63 | METLDNDGDGE | 1 | Homo sapiens | N63 | METLDSDGDGE | 1 | Bos taurus | Q72 | GECDFQEFMAF | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | S19 | VFHQYSGREGD | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | S42 | INNELSHFLEE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | T60 | DKVMETLDEDG | 2 | Mus musculus, Rattus norvegicus | T60 | DKVMETLDNDG | 1 | Homo sapiens | T60 | DKVMETLDSDG | 1 | Bos taurus | V53 | IKEQEVVDKVM | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | V57 | EVVDKVMETLD | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | V81 | AFVAMVTTACH | 2 | Homo sapiens, Mus musculus | V81 | AFVSMVTTACH | 1 | Rattus norvegicus | V81 | AFVAMITTACH | 1 | Bos taurus |
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