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mutLBSgeneDB |
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| Gene summary for RBP2 |
 Gene summary |
| Basic gene Info. | Gene symbol | RBP2 |
| Gene name | retinol binding protein 2, cellular | |
| Synonyms | CRABP-II|CRBP2|CRBPII|RBPC2 | |
| Cytomap | UCSC genome browser: 3q23 | |
| Type of gene | protein-coding | |
| RefGenes | NM_004164.2, | |
| Description | CRBP-IIcellular retinol-binding protein IIretinol-binding protein 2retinol-binding protein 2, cellular | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 180280 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000114113 | ||
| HPRD : 07184 | ||
| Vega : OTTHUMG00000159956 | ||
| Protein | UniProt: P50120 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_RBP2 | |
| BioGPS: 5948 | ||
| Pathway | NCI Pathway Interaction Database: RBP2 | |
| KEGG: RBP2 | ||
| REACTOME: RBP2 | ||
| Pathway Commons: RBP2 | ||
| Context | iHOP: RBP2 | |
| ligand binding site mutation search in PubMed: RBP2 | ||
| UCL Cancer Institute: RBP2 | ||
| 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 RBP2 |
| 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 | I26 | I26T | BLCA | 1 | A34 | R36C | COAD | 1 | F17 | E18G | GBM | 1 | A34 | V35E | LUAD | 1 | I26 | D27N | LUAD | 1 | M21 | A23S | LUSC | 1 | A34 | I33T | SKCM | 1 | I26 | F28S | 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 RBP2 |
| 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 | I26 | I26T | -1.6149482 | A34 | I33T | -1.5190764 | I26 | D27N | -1.5159952 | I26 | F28S | -1.1387639 | M21 | A23S | -1.0870355 | F17 | E18G | -0.96212201 | A34 | V35E | -0.87506517 | A34 | R36C | -0.2953139 |
| (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 RBP2 from PDB |
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| Differential gene expression and gene-gene network for RBP2 |
| 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 RBP2 |
| 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 RBP2 |
| 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 RBP2 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 RBP2 |
| Multiple alignments for P50120 in multiple species |
| LBS | AA sequence | # species | Species | A34 | ATRKIAVRLTQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F17 | ESNENFEGYMK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F58 | KTNSTFRNYDL | 2 | Mus musculus, Rattus norvegicus | F58 | KTTSTFRNYDV | 1 | Homo sapiens | F65 | NYDLDFTVGVE | 2 | Mus musculus, Rattus norvegicus | F65 | NYDVDFTVGVE | 1 | Homo sapiens | I26 | MKALDIDFATR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K41 | RLTQTKVIDQD | 1 | Homo sapiens | K41 | RLTQTKIITQD | 1 | Mus musculus | K41 | RLTQTKIIVQD | 1 | Rattus norvegicus | L118 | GDKLYLELTCG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L120 | KLYLELTCGDQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L78 | EYTKSLDNRHV | 1 | Homo sapiens | L78 | EHTKGLDGRHV | 1 | Mus musculus | L78 | EHTKGLDGRNV | 1 | Rattus norvegicus | M21 | NFEGYMKALDI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N60 | NSTFRNYDLDF | 2 | Mus musculus, Rattus norvegicus | N60 | TSTFRNYDVDF | 1 | Homo sapiens | Q109 | NRGWKQWVEGD | 2 | Mus musculus, Rattus norvegicus | Q109 | NRGWKQWIEGD | 1 | Homo sapiens | Q39 | AVRLTQTKVID | 1 | Homo sapiens | Q39 | AVRLTQTKIIT | 1 | Mus musculus | Q39 | AVRLTQTKIIV | 1 | Rattus norvegicus | R59 | TNSTFRNYDLD | 2 | Mus musculus, Rattus norvegicus | R59 | TTSTFRNYDVD | 1 | Homo sapiens | S77 | DEYTKSLDNRH | 1 | Homo sapiens | S77 | DEHTKGLDGRH | 1 | Mus musculus | S77 | DEHTKGLDGRN | 1 | Rattus norvegicus | T52 | GDNFKTKTNST | 2 | Mus musculus, Rattus norvegicus | T52 | GDNFKTKTTST | 1 | Homo sapiens | T54 | NFKTKTNSTFR | 2 | Mus musculus, Rattus norvegicus | T54 | NFKTKTTSTFR | 1 | Homo sapiens | V63 | FRNYDLDFTVG | 2 | Mus musculus, Rattus norvegicus | V63 | FRNYDVDFTVG | 1 | Homo sapiens | W107 | KENRGWKQWVE | 2 | Mus musculus, Rattus norvegicus | W107 | KENRGWKQWIE | 1 | Homo sapiens | Y20 | ENFEGYMKALD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y61 | STFRNYDLDFT | 2 | Mus musculus, Rattus norvegicus | Y61 | STFRNYDVDFT | 1 | Homo sapiens |
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