|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for PLEKHB2 |
 Gene summary |
| Basic gene Info. | Gene symbol | PLEKHB2 |
| Gene name | pleckstrin homology domain containing, family B (evectins) member 2 | |
| Synonyms | EVT2 | |
| Cytomap | UCSC genome browser: 2q21.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001031706.1, NM_001100623.1,NM_001267062.1,NM_001267063.1,NM_001267064.1, NM_001267065.1,NM_001267066.1,NM_001267067.1,NM_001267068.1, NM_017958.2,NR_049789.1,NR_049790.1,NR_049791.1, NR_049792.1, | |
| Description | PH domain-containing family B member 2evectin-2pleckstrin homology domain-containing family B member 2 | |
| Modification date | 20141207 | |
| dbXrefs | HGNC : HGNC | |
| Ensembl : ENSG00000115762 | ||
| HPRD : 15144 | ||
| Vega : OTTHUMG00000131656 | ||
| Protein | UniProt: Q96CS7 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PLEKHB2 | |
| BioGPS: 55041 | ||
| Pathway | NCI Pathway Interaction Database: PLEKHB2 | |
| KEGG: PLEKHB2 | ||
| REACTOME: PLEKHB2 | ||
| Pathway Commons: PLEKHB2 | ||
| Context | iHOP: PLEKHB2 | |
| ligand binding site mutation search in PubMed: PLEKHB2 | ||
| UCL Cancer Institute: PLEKHB2 | ||
| 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 |
| Top |
| Ligand binding site mutations for PLEKHB2 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R18,K20 | W19L | LUAD | 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. |
| Top |
| Protein structure related information for PLEKHB2 |
| 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 |
 |
| 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 | K20 | W19L | -1.0556733 | R18 | W19L | -1.0556733 |
| (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 PLEKHB2 from PDB |
| Top |
| Differential gene expression and gene-gene network for PLEKHB2 |
| 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) |
| Top |
| Top |
| Phenotype information for PLEKHB2 |
| 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 |
| Top |
| Pharmacological information for PLEKHB2 |
| 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. |
 |
| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
 |
| Ligands binding to mutated ligand binding site of PLEKHB2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | SEP | O-PHOSPHO-L-SERINE RESIDUE | 3aj4 | A | R18 K20 |
| Top |
| Conservation information for LBS of PLEKHB2 |
| Multiple alignments for Q96CS7 in multiple species |
| LBS | AA sequence | # species | Species | E44 | TRQNIEDKVHM | 1 | Homo sapiens | E44 | NRHDIEDKIHM | 1 | Gallus gallus | E44 | TRQSIEDKVHM | 1 | Mus musculus | I15 | LRQSTILKRWK | 2 | Homo sapiens, Mus musculus | I15 | LRQSTILRRWK | 1 | Gallus gallus | K20 | ILKRWKKNWFD | 2 | Homo sapiens, Mus musculus | K20 | ILRRWKKNWFD | 1 | Gallus gallus | L16 | RQSTILKRWKK | 2 | Homo sapiens, Mus musculus | L16 | RQSTILRRWKK | 1 | Gallus gallus | R11 | SGWLLRQSTIL | 3 | Homo sapiens, Gallus gallus, Mus musculus | R18 | STILKRWKKNW | 2 | Homo sapiens, Mus musculus | R18 | STILRRWKKNW | 1 | Gallus gallus | S13 | WLLRQSTILKR | 2 | Homo sapiens, Mus musculus | S13 | WLLRQSTILRR | 1 | Gallus gallus | T14 | LLRQSTILKRW | 2 | Homo sapiens, Mus musculus | T14 | LLRQSTILRRW | 1 | Gallus gallus |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |