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mutLBSgeneDB |
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| Gene summary for CRABP2 |
 Gene summary |
| Basic gene Info. | Gene symbol | CRABP2 |
| Gene name | cellular retinoic acid binding protein 2 | |
| Synonyms | CRABP-II|RBP6 | |
| Cytomap | UCSC genome browser: 1q21.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001199723.1, NM_001878.3, | |
| Description | cellular retinoic acid-binding protein 2cellular retinoic acid-binding protein II | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 180231 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000143320 | ||
| HPRD : 08353 | ||
| Vega : OTTHUMG00000041300 | ||
| Protein | UniProt: P29373 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CRABP2 | |
| BioGPS: 1382 | ||
| Pathway | NCI Pathway Interaction Database: CRABP2 | |
| KEGG: CRABP2 | ||
| REACTOME: CRABP2 | ||
| Pathway Commons: CRABP2 | ||
| Context | iHOP: CRABP2 | |
| ligand binding site mutation search in PubMed: CRABP2 | ||
| UCL Cancer Institute: CRABP2 | ||
| 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 CRABP2 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R60 | R60H | UCEC | 2 | R60 | R60H | HNSC | 1 | S13 | R12Q | LUSC | 1 | V59 | V59L | SKCM | 1 | L20 | L20F | STAD | 1 | A33 | A33D | UCEC | 1 | F16 | E17D | 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 CRABP2 |
| 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 | S13 | R12Q | -1.4297454 | L20 | L20F | -1.1300743 | R60 | R60H | -1.0398778 | A33 | A33D | -0.84379331 | V59 | V59L | -0.6627668 | F16 | E17D | -0.38230235 |
| (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 CRABP2 from PDB |
| PDB ID | PDB title | PDB structure | 1BLR | NMR SOLUTION STRUCTURE OF HUMAN CELLULAR RETINOIC ACID BINDING PROTEIN-TYPE II, 22 STRUCTURES |  |
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| Differential gene expression and gene-gene network for CRABP2 |
| 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 CRABP2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0268583 | Methylmalonic acidemia | 1 | Biomarker |
| umls:C2825055 | Recurrence | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CRABP2 |
| 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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| 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 CRABP2 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 CRABP2 |
| Multiple alignments for P29373 in multiple species |
| LBS | AA sequence | # species | Species | A33 | MLRKIAVAAAS | 2 | Homo sapiens, Bos taurus | A33 | MMRKIAVAAAS | 1 | Mus musculus | A35 | RKIAVAAASKP | 3 | Homo sapiens, Bos taurus, Mus musculus | A36 | KIAVAAASKPA | 3 | Homo sapiens, Bos taurus, Mus musculus | A37 | IAVAAASKPAV | 3 | Homo sapiens, Bos taurus, Mus musculus | D78 | EEQTVDGRPCK | 3 | Homo sapiens, Bos taurus, Mus musculus | F16 | IRSENFEELLK | 1 | Homo sapiens | F16 | IRSENFEDLLK | 1 | Bos taurus | F16 | IRSENFEEMLK | 1 | Mus musculus | I32 | VMLRKIAVAAA | 2 | Homo sapiens, Bos taurus | I32 | MMMRKIAVAAA | 1 | Mus musculus | I53 | GDTFYIKTSTT | 2 | Homo sapiens, Bos taurus | I53 | NDTFYIKTSTT | 1 | Mus musculus | I64 | VRTTEINFKIG | 2 | Bos taurus, Mus musculus | I64 | VRTTEINFKVG | 1 | Homo sapiens | K39 | VAAASKPAVEI | 3 | Homo sapiens, Bos taurus, Mus musculus | L122 | DGELILTMTAD | 3 | Homo sapiens, Bos taurus, Mus musculus | L20 | NFEELLKVLGV | 1 | Homo sapiens | L20 | NFEDLLKVLGV | 1 | Bos taurus | L20 | NFEEMLKALGV | 1 | Mus musculus | L29 | GVNVMLRKIAV | 2 | Homo sapiens, Bos taurus | L29 | GVNMMMRKIAV | 1 | Mus musculus | M124 | ELILTMTADDV | 2 | Homo sapiens, Mus musculus | M124 | ELILTMTADDI | 1 | Bos taurus | P40 | AAASKPAVEIK | 3 | Homo sapiens, Bos taurus, Mus musculus | R133 | DVVCTRVYVRE | 2 | Homo sapiens, Mus musculus | R133 | DIVCTRVYVRE | 1 | Bos taurus | R60 | TSTTVRTTEIN | 3 | Homo sapiens, Bos taurus, Mus musculus | S13 | WKIIRSENFEE | 2 | Homo sapiens, Mus musculus | S13 | WKIIRSENFED | 1 | Bos taurus | S38 | AVAAASKPAVE | 3 | Homo sapiens, Bos taurus, Mus musculus | T55 | TFYIKTSTTVR | 3 | Homo sapiens, Bos taurus, Mus musculus | T57 | YIKTSTTVRTT | 3 | Homo sapiens, Bos taurus, Mus musculus | T62 | TTVRTTEINFK | 3 | Homo sapiens, Bos taurus, Mus musculus | V25 | LKVLGVNVMLR | 2 | Homo sapiens, Bos taurus | V25 | LKALGVNMMMR | 1 | Mus musculus | V34 | LRKIAVAAASK | 2 | Homo sapiens, Bos taurus | V34 | MRKIAVAAASK | 1 | Mus musculus | V42 | ASKPAVEIKQE | 3 | Homo sapiens, Bos taurus, Mus musculus | V59 | KTSTTVRTTEI | 3 | Homo sapiens, Bos taurus, Mus musculus | V77 | FEEQTVDGRPC | 3 | Homo sapiens, Bos taurus, Mus musculus | Y135 | VCTRVYVRE | 3 | Homo sapiens, Bos taurus, Mus musculus |
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