mutLBSgeneDB |
Gene summary for RAC2 |
Gene summary |
Basic gene Info. | Gene symbol | RAC2 |
Gene name | ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) | |
Synonyms | EN-7|Gx|HSPC022|p21-Rac2 | |
Cytomap | UCSC genome browser: 22q13.1 | |
Type of gene | protein-coding | |
RefGenes | NM_002872.4, | |
Description | Ras-related C3 botulinum toxin substrate 3 (rho family, small GTP-binding protein Rac2)ras-related C3 botulinum toxin substrate 2small G protein | |
Modification date | 20141221 | |
dbXrefs | MIM : 602049 | |
HGNC : HGNC | ||
Ensembl : ENSG00000128340 | ||
HPRD : 03628 | ||
Vega : OTTHUMG00000150540 | ||
Protein | UniProt: P15153 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_RAC2 | |
BioGPS: 5880 | ||
Pathway | NCI Pathway Interaction Database: RAC2 | |
KEGG: RAC2 | ||
REACTOME: RAC2 | ||
Pathway Commons: RAC2 | ||
Context | iHOP: RAC2 | |
ligand binding site mutation search in PubMed: RAC2 | ||
UCL Cancer Institute: RAC2 | ||
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:0060263 | regulation of respiratory burst | 16636067 |
Top |
Ligand binding site mutations for RAC2 |
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. |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | T35 | T35I | SKCM | 1 | G15 | G15D | STAD | 1 | C18 | C18R | 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. |
Top |
Protein structure related information for RAC2 |
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 | T35 | T35I | -0.82983151 | C18 | C18R | -0.65740779 | G15 | G15D | -0.20318495 |
(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 RAC2 from PDB |
Top |
Differential gene expression and gene-gene network for RAC2 |
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 RAC2 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0024299 | Lymphoma | 2 | Biomarker |
umls:C1842398 | Neutrophil Immunodeficiency Syndrome | 1 | Biomarker, GeneticVariation |
umls:C0018799 | Heart Diseases | 1 | Biomarker |
umls:C0025202 | Melanoma | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
Top |
Pharmacological information for RAC2 |
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 RAC2 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | GDP | GUANOSINE-5'-DIPHOSPHATE | 1ds6 | A | G15 C18 | GDP | GUANOSINE-5'-DIPHOSPHATE | 2w2t | A | G15 C18 | GTP | GTP | 2w2v | A | G15 C18 | GTP | GTP | 2w2v | B | G15 C18 | GTP | GTP | 2w2v | C | G15 C18 | GTP | GTP | 2w2v | D | G15 C18 | GSP | GUANOSINE 5'-[GAMMA-THIO]TRIPHOSPHATE | 2w2x | A | G15 C18 T35 | GSP | GUANOSINE 5'-[GAMMA-THIO]TRIPHOSPHATE | 2w2x | B | G15 C18 T35 | MG | MAGNESIUM(2+) | 1ds6 | A | T35 | MG | MAGNESIUM(2+) | 2w2x | A | T35 | MG | MAGNESIUM(2+) | 2w2x | B | T35 |
Top |
Conservation information for LBS of RAC2 |
Multiple alignments for P15153 in multiple species |
LBS | AA sequence | # species | Species | A13 | TVGDGAVGKTC | 4 | Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana | A13 | VVGDGAVGKTC | 3 | Homo sapiens, Mus musculus, Bos taurus | A159 | YIECSSKTQQN | 4 | Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana | A159 | YLECSALTQRG | 3 | Homo sapiens, Mus musculus, Bos taurus | C18 | AVGKTCMLICY | 4 | Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana | C18 | AVGKTCLLISY | 3 | Homo sapiens, Mus musculus, Bos taurus | D11 | CVTVGDGAVGK | 4 | Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana | D11 | CVVVGDGAVGK | 3 | Homo sapiens, Mus musculus, Bos taurus | D118 | VGTKLDLRDDK | 3 | Homo sapiens, Mus musculus, Bos taurus | D118 | VGTKLDLREDK | 3 | Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana | D118 | VGTKMDLREDR | 1 | Arabidopsis thaliana | D57 | NLGLWDTAGQE | 7 | Homo sapiens, Mus musculus, Bos taurus, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana | F28 | YTTNAFPGEYI | 3 | Homo sapiens, Mus musculus, Bos taurus | F28 | YTSNKFPTDYI | 3 | Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana | F28 | YTSNKFPTDYV | 1 | Oryza sativa subsp. japonica | G12 | VTVGDGAVGKT | 4 | Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana | G12 | VVVGDGAVGKT | 3 | Homo sapiens, Mus musculus, Bos taurus | G15 | GDGAVGKTCML | 4 | Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana | G15 | GDGAVGKTCLL | 3 | Homo sapiens, Mus musculus, Bos taurus | G60 | LWDTAGQEDYN | 4 | Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana | G60 | LWDTAGQEDYD | 3 | Homo sapiens, Mus musculus, Bos taurus | I33 | FPGEYIPTVFD | 3 | Homo sapiens, Mus musculus, Bos taurus | I33 | FPTDYIPTVFD | 3 | Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana | I33 | FPTDYVPTVFD | 1 | Oryza sativa subsp. japonica | K116 | ILVGTKLDLRD | 3 | Homo sapiens, Mus musculus, Bos taurus | K116 | VLVGTKLDLRE | 3 | Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana | K116 | VLVGTKMDLRE | 1 | Arabidopsis thaliana | K16 | DGAVGKTCMLI | 4 | Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana | K16 | DGAVGKTCLLI | 3 | Homo sapiens, Mus musculus, Bos taurus | L119 | GTKLDLRDDKD | 3 | Homo sapiens, Mus musculus, Bos taurus | L119 | GTKLDLREDKH | 3 | Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana | L119 | GTKMDLREDRH | 1 | Arabidopsis thaliana | L160 | IECSSKTQQNV | 4 | Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana | L160 | LECSALTQRGL | 3 | Homo sapiens, Mus musculus, Bos taurus | P34 | PGEYIPTVFDN | 3 | Homo sapiens, Mus musculus, Bos taurus | P34 | PTDYIPTVFDN | 3 | Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana | P34 | PTDYVPTVFDN | 1 | Oryza sativa subsp. japonica | S158 | KYLECSALTQR | 3 | Homo sapiens, Mus musculus, Bos taurus | S158 | YYIECSSKTQQ | 3 | Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana | S158 | CYIECSSKTQQ | 1 | Oryza sativa subsp. japonica | T17 | GAVGKTCMLIC | 4 | Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana | T17 | GAVGKTCLLIS | 3 | Homo sapiens, Mus musculus, Bos taurus | T35 | GEYIPTVFDNY | 3 | Homo sapiens, Mus musculus, Bos taurus | T35 | TDYIPTVFDNF | 3 | Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana | T35 | TDYVPTVFDNF | 1 | Oryza sativa subsp. japonica | T58 | LGLWDTAGQED | 7 | Homo sapiens, Mus musculus, Bos taurus, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana | V14 | VGDGAVGKTCM | 4 | Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana | V14 | VGDGAVGKTCL | 3 | Homo sapiens, Mus musculus, Bos taurus | Y32 | AFPGEYIPTVF | 3 | Homo sapiens, Mus musculus, Bos taurus | Y32 | KFPTDYIPTVF | 3 | Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana | Y32 | KFPTDYVPTVF | 1 | Oryza sativa subsp. japonica |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |