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mutLBSgeneDB |
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| Gene summary for CD2BP2 |
 Gene summary |
| Basic gene Info. | Gene symbol | CD2BP2 |
| Gene name | CD2 (cytoplasmic tail) binding protein 2 | |
| Synonyms | FWP010|LIN1|PPP1R59|Snu40|U5-52K | |
| Cytomap | UCSC genome browser: 16p11.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001243646.1, NM_006110.2, | |
| Description | CD2 antigen (cytoplasmic tail) binding protein 2CD2 antigen cytoplasmic tail-binding protein 2CD2 cytoplasmic domain-binding protein 2U5 snRNP 52K proteinprotein phosphatase 1, regulatory subunit 59 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 604470 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000169217 | ||
| HPRD : 05127 | ||
| Vega : OTTHUMG00000132397 | ||
| Protein | UniProt: O95400 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CD2BP2 | |
| BioGPS: 10421 | ||
| Pathway | NCI Pathway Interaction Database: CD2BP2 | |
| KEGG: CD2BP2 | ||
| REACTOME: CD2BP2 | ||
| Pathway Commons: CD2BP2 | ||
| Context | iHOP: CD2BP2 | |
| ligand binding site mutation search in PubMed: CD2BP2 | ||
| UCL Cancer Institute: CD2BP2 | ||
| 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:0010923 | negative regulation of phosphatase activity | 19389623 |
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| Ligand binding site mutations for CD2BP2 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | W287 | E288G | COAD | 2 | W287 | E288Q | OV | 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 CD2BP2 |
| 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 | W287 | E288G | -1.4257924 | W287 | E288Q | -1.2091678 |
| (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 CD2BP2 from PDB |
| PDB ID | PDB title | PDB structure | 1GYF | GYF DOMAIN FROM HUMAN CD2BP2 PROTEIN |  |
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| Differential gene expression and gene-gene network for CD2BP2 |
| 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 CD2BP2 |
| 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 CD2BP2 |
| 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 CD2BP2 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 CD2BP2 |
| Multiple alignments for O95400 in multiple species |
| LBS | AA sequence | # species | Species | E294 | NTGDAELYGPF | 2 | Homo sapiens, Mus musculus | E294 | SQDETDIQGPF | 1 | Drosophila melanogaster | E310 | QTWVSEGYFPD | 2 | Homo sapiens, Mus musculus | E310 | LKWSQENYFKN | 1 | Drosophila melanogaster | F299 | ELYGPFTSAQM | 2 | Homo sapiens, Mus musculus | F299 | DIQGPFSTEKM | 1 | Drosophila melanogaster | Q303 | PFTSAQMQTWV | 2 | Homo sapiens, Mus musculus | Q303 | PFSTEKMLKWS | 1 | Drosophila melanogaster | W287 | MWEYKWENTGD | 2 | Homo sapiens, Mus musculus | W287 | TWEFKW-SQDE | 1 | Drosophila melanogaster | W307 | AQMQTWVSEGY | 2 | Homo sapiens, Mus musculus | W307 | EKMLKWSQENY | 1 | Drosophila melanogaster | Y285 | DVMWEYKWENT | 2 | Homo sapiens, Mus musculus | Y285 | EVTWEFKW-SQ | 1 | Drosophila melanogaster | Y296 | GDAELYGPFTS | 2 | Homo sapiens, Mus musculus | Y296 | DETDIQGPFST | 1 | Drosophila melanogaster | Y312 | WVSEGYFPDGV | 2 | Homo sapiens, Mus musculus | Y312 | WSQENYFKNGV | 1 | Drosophila melanogaster |
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