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mutLBSgeneDB |
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| Gene summary for PMP2 |
 Gene summary |
| Basic gene Info. | Gene symbol | PMP2 |
| Gene name | peripheral myelin protein 2 | |
| Synonyms | FABP8|M-FABP|MP2|P2 | |
| Cytomap | UCSC genome browser: 8q21.3-q22.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_002677.3, | |
| Description | myelin P2 protein | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 170715 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000147588 | ||
| HPRD : 01366 | ||
| Vega : OTTHUMG00000164600 | ||
| Protein | UniProt: P02689 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PMP2 | |
| BioGPS: 5375 | ||
| Pathway | NCI Pathway Interaction Database: PMP2 | |
| KEGG: PMP2 | ||
| REACTOME: PMP2 | ||
| Pathway Commons: PMP2 | ||
| Context | iHOP: PMP2 | |
| ligand binding site mutation search in PubMed: PMP2 | ||
| UCL Cancer Institute: PMP2 | ||
| 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 PMP2 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | T54 | R53Q | UCEC | 2 | T54 | R53Q | COAD | 1 | D77 | D77G | KIRC | 1 | T54 | R53Q | SKCM | 1 | G34 | L36V | 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 PMP2 |
| 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 | T54 | R53Q | -1.0412681 | D77 | D77G | -0.9807642 | G34 | L36V | -0.66032207 |
| (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 PMP2 from PDB |
| PDB ID | PDB title | PDB structure | 3NR3 | Crystal Structure of Human Peripheral Myelin Protein 2 |  |
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| Differential gene expression and gene-gene network for PMP2 |
| 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 PMP2 |
| 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 PMP2 |
| 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 |
| Experimental | DB01915 | S-Hydroxycysteine | Small molecule |  |
| Experimental | DB03796 | Palmitic Acid | Small molecule |  |
| Experimental | DB04147 | Lauryl Dimethylamine-N-Oxide | Small molecule |  |
| Approved|vet_approved | DB04224 | Oleic Acid | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of PMP2 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 PMP2 |
| Multiple alignments for P02689 in multiple species |
| LBS | AA sequence | # species | Species | A76 | FEETTADNRKT | 2 | Homo sapiens, Bos taurus | A76 | FDETTADNRKA | 1 | Mus musculus | C118 | KMVAECKMKGV | 1 | Homo sapiens | C118 | RMVVECIMKGV | 1 | Mus musculus | C118 | KMVVECKMKDV | 1 | Bos taurus | D77 | EETTADNRKTK | 2 | Homo sapiens, Bos taurus | D77 | DETTADNRKAK | 1 | Mus musculus | F17 | VSSENFDDYMK | 1 | Homo sapiens | F17 | VSSEHFDDYMK | 1 | Mus musculus | F17 | VSSENFDEYMK | 1 | Bos taurus | F58 | RTESTFKNTEI | 1 | Homo sapiens | F58 | RTESAFKNTEI | 1 | Mus musculus | F58 | RTESPFKNTEI | 1 | Bos taurus | G34 | ATRKLGNLAKP | 2 | Homo sapiens, Bos taurus | G34 | ANRKLGNLAKP | 1 | Mus musculus | I105 | GKETTIKRKLV | 1 | Homo sapiens | I105 | GKETAIRRTLL | 1 | Mus musculus | I105 | GNETTIKRKLV | 1 | Bos taurus | K59 | TESTFKNTEIS | 1 | Homo sapiens | K59 | TESAFKNTEIS | 1 | Mus musculus | K59 | TESPFKNTEIS | 1 | Bos taurus | L24 | DYMKALGVGLA | 2 | Homo sapiens, Mus musculus | L24 | EYMKALGVGLA | 1 | Bos taurus | M21 | NFDDYMKALGV | 1 | Homo sapiens | M21 | HFDDYMKALGV | 1 | Mus musculus | M21 | NFDEYMKALGV | 1 | Bos taurus | P39 | GNLAKPTVIIS | 2 | Homo sapiens, Mus musculus | P39 | GNLAKPRVIIS | 1 | Bos taurus | R107 | ETTIKRKLVNG | 1 | Homo sapiens | R107 | ETAIRRTLLDG | 1 | Mus musculus | R107 | ETTIKRKLVDG | 1 | Bos taurus | R127 | GVVCTRIYEKV | 2 | Homo sapiens, Mus musculus | R127 | DVVCTRIYEKV | 1 | Bos taurus | S56 | TIRTESTFKNT | 1 | Homo sapiens | S56 | TIRTESAFKNT | 1 | Mus musculus | S56 | TIRTESPFKNT | 1 | Bos taurus | T54 | IITIRTESTFK | 1 | Homo sapiens | T54 | YITIRTESAFK | 1 | Mus musculus | T54 | IITIRTESPFK | 1 | Bos taurus | V26 | MKALGVGLATR | 2 | Homo sapiens, Bos taurus | V26 | MKALGVGLANR | 1 | Mus musculus | Y129 | VCTRIYEKV | 3 | Homo sapiens, Mus musculus, Bos taurus |
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