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mutLBSgeneDB |
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| Gene summary for RBP4 |
 Gene summary |
| Basic gene Info. | Gene symbol | RBP4 |
| Gene name | retinol binding protein 4, plasma | |
| Synonyms | RDCCAS | |
| Cytomap | UCSC genome browser: 10q23.33 | |
| Type of gene | protein-coding | |
| RefGenes | NM_006744.3, | |
| Description | PRBPRBPplasma retinol-binding proteinretinol-binding protein 4retinol-binding protein 4, interstitial | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 180250 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000138207 | ||
| HPRD : 01580 | ||
| Vega : OTTHUMG00000018773 | ||
| Protein | UniProt: P02753 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_RBP4 | |
| BioGPS: 5950 | ||
| Pathway | NCI Pathway Interaction Database: RBP4 | |
| KEGG: RBP4 | ||
| REACTOME: RBP4 | ||
| Pathway Commons: RBP4 | ||
| Context | iHOP: RBP4 | |
| ligand binding site mutation search in PubMed: RBP4 | ||
| UCL Cancer Institute: RBP4 | ||
| 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 | GO:0030277 | maintenance of gastrointestinal epithelium | 10944490 | GO:0032526 | response to retinoic acid | 571335 | GO:0042593 | glucose homeostasis | 17003346 |
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| Ligand binding site mutations for RBP4 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | M91 | A89T | COAD | 1 | G118 | G118E | SKCM | 1 | M91 | A89T | STAD | 1 | M91 | D90Y | 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 RBP4 |
| 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 | M91 | D90Y | -1.0330287 | M91 | A89T | -0.78926627 | G118 | G118E | -0.622275 |
| (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 RBP4 from PDB |
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| Differential gene expression and gene-gene network for RBP4 |
| 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 RBP4 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0032460 | Polycystic Ovary Syndrome | 2 | AlteredExpression, Biomarker |
| umls:C0042842 | Vitamin A Deficiency | 2 | Biomarker |
| umls:C3554593 | RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME | 1 | GeneticVariation |
| umls:C0000786 | Abortion, Spontaneous | 1 | Biomarker |
| umls:C0007097 | Carcinoma | 1 | Biomarker |
| umls:C0152455 | Keratomalacia | 1 | Biomarker |
| umls:C0022658 | Kidney Diseases | 1 | Biomarker |
| umls:C0023896 | Liver Diseases, Alcoholic | 1 | Biomarker |
| umls:C0024667 | Mammary Neoplasms, Animal | 1 | Biomarker |
| umls:C0024668 | Mammary Neoplasms, Experimental | 1 | Biomarker |
| umls:C0027540 | Necrosis | 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 RBP4 |
| 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 |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of RBP4 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 RBP4 |
| Multiple alignments for P02753 in multiple species |
| LBS | AA sequence | # species | Species | A61 | QDNIVAEFSVD | 2 | Homo sapiens, Pan troglodytes | A61 | QDNIIAEFSVD | 2 | Mus musculus, Rattus norvegicus | A61 | QDNVVAQFTVD | 1 | Gallus gallus | A73 | TGQMSATAKGR | 2 | Homo sapiens, Pan troglodytes | A73 | KGHMSATAKGR | 2 | Mus musculus, Rattus norvegicus | A73 | NGQMSATAKGR | 1 | Gallus gallus | A75 | QMSATAKGRVR | 3 | Homo sapiens, Gallus gallus, Pan troglodytes | A75 | HMSATAKGRVR | 2 | Mus musculus, Rattus norvegicus | D120 | LQKGNDDHWIV | 2 | Homo sapiens, Pan troglodytes | D120 | LQRGNDDHWII | 2 | Mus musculus, Rattus norvegicus | D120 | LQKGNDDHWVV | 1 | Gallus gallus | F114 | WGVASFLQKGN | 3 | Homo sapiens, Gallus gallus, Pan troglodytes | F114 | WGVASFLQRGN | 2 | Mus musculus, Rattus norvegicus | F153 | ADSYSFVFSRD | 5 | Homo sapiens, Gallus gallus, Pan troglodytes, Mus musculus, Rattus norvegicus | F155 | SYSFVFSRDPN | 4 | Homo sapiens, Pan troglodytes, Mus musculus, Rattus norvegicus | F155 | SYSFVFSRDPK | 1 | Gallus gallus | F54 | DPEGLFLQDNI | 4 | Homo sapiens, Pan troglodytes, Mus musculus, Rattus norvegicus | F54 | DPEGLFLQDNV | 1 | Gallus gallus | F63 | NIVAEFSVDET | 2 | Homo sapiens, Pan troglodytes | F63 | NIIAEFSVDEK | 2 | Mus musculus, Rattus norvegicus | F63 | NVVAQFTVDEN | 1 | Gallus gallus | G118 | SFLQKGNDDHW | 3 | Homo sapiens, Gallus gallus, Pan troglodytes | G118 | SFLQRGNDDHW | 2 | Mus musculus, Rattus norvegicus | G93 | CADMVGTFTDT | 4 | Homo sapiens, Pan troglodytes, Mus musculus, Rattus norvegicus | G93 | CADMIGSFTDT | 1 | Gallus gallus | H122 | KGNDDHWIVDT | 2 | Homo sapiens, Pan troglodytes | H122 | RGNDDHWIIDT | 2 | Mus musculus, Rattus norvegicus | H122 | KGNDDHWVVDT | 1 | Gallus gallus | K47 | WYAMAKKDPEG | 3 | Homo sapiens, Gallus gallus, Pan troglodytes | K47 | WYAIAKKDPEG | 2 | Mus musculus, Rattus norvegicus | L115 | GVASFLQKGND | 3 | Homo sapiens, Gallus gallus, Pan troglodytes | L115 | GVASFLQRGND | 2 | Mus musculus, Rattus norvegicus | L53 | KDPEGLFLQDN | 5 | Homo sapiens, Gallus gallus, Pan troglodytes, Mus musculus, Rattus norvegicus | L55 | PEGLFLQDNIV | 2 | Homo sapiens, Pan troglodytes | L55 | PEGLFLQDNII | 2 | Mus musculus, Rattus norvegicus | L55 | PEGLFLQDNVV | 1 | Gallus gallus | L81 | KGRVRLLNNWD | 2 | Homo sapiens, Pan troglodytes | L81 | KGRVRLLSNWE | 2 | Mus musculus, Rattus norvegicus | L81 | KGRVRLFNNWD | 1 | Gallus gallus | M106 | PAKFKMKYWGV | 5 | Homo sapiens, Gallus gallus, Pan troglodytes, Mus musculus, Rattus norvegicus | M91 | DVCADMVGTFT | 2 | Homo sapiens, Pan troglodytes | M91 | EVCADMVGTFT | 2 | Mus musculus, Rattus norvegicus | M91 | DVCADMIGSFT | 1 | Gallus gallus | P50 | MAKKDPEGLFL | 3 | Homo sapiens, Gallus gallus, Pan troglodytes | P50 | IAKKDPEGLFL | 2 | Mus musculus, Rattus norvegicus | Q116 | VASFLQKGNDD | 3 | Homo sapiens, Gallus gallus, Pan troglodytes | Q116 | VASFLQRGNDD | 2 | Mus musculus, Rattus norvegicus | Q135 | DTYAVQYSCRL | 2 | Homo sapiens, Pan troglodytes | Q135 | DTFALQYSCRL | 2 | Mus musculus, Rattus norvegicus | Q135 | DTYALHYSCRE | 1 | Gallus gallus | R139 | VQYSCRLLNLD | 2 | Homo sapiens, Pan troglodytes | R139 | LQYSCRLQNLD | 2 | Mus musculus, Rattus norvegicus | R139 | LHYSCRELNED | 1 | Gallus gallus | V79 | TAKGRVRLLNN | 2 | Homo sapiens, Pan troglodytes | V79 | TAKGRVRLLSN | 2 | Mus musculus, Rattus norvegicus | V79 | TAKGRVRLFNN | 1 | Gallus gallus | V92 | VCADMVGTFTD | 4 | Homo sapiens, Pan troglodytes, Mus musculus, Rattus norvegicus | V92 | VCADMIGSFTD | 1 | Gallus gallus | Y108 | KFKMKYWGVAS | 5 | Homo sapiens, Gallus gallus, Pan troglodytes, Mus musculus, Rattus norvegicus | Y151 | TCADSYSFVFS | 5 | Homo sapiens, Gallus gallus, Pan troglodytes, Mus musculus, Rattus norvegicus |
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