mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for RAC2
Gene summary
Basic gene Info.Gene symbolRAC2
Gene nameras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)
SynonymsEN-7|Gx|HSPC022|p21-Rac2
CytomapUCSC genome browser: 22q13.1
Type of geneprotein-coding
RefGenesNM_002872.4,
DescriptionRas-related C3 botulinum toxin substrate 3 (rho family, small GTP-binding protein Rac2)ras-related C3 botulinum toxin substrate 2small G protein
Modification date20141221
dbXrefs MIM : 602049
HGNC : HGNC
Ensembl : ENSG00000128340
HPRD : 03628
Vega : OTTHUMG00000150540
ProteinUniProt: P15153
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_RAC2
BioGPS: 5880
PathwayNCI Pathway Interaction Database: RAC2
KEGG: RAC2
REACTOME: RAC2
Pathway Commons: RAC2
ContextiHOP: RAC2
ligand binding site mutation search in PubMed: RAC2
UCL Cancer Institute: RAC2
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0060263regulation of respiratory burst16636067


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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
LBSAAchange of nsSNVCancer type# samples
T35T35ISKCM1
G15G15DSTAD1
C18C18RUCEC1
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 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.
LBSAAchange of nsSNVRelative stability change
T35T35I-0.82983151
C18C18R-0.65740779
G15G15D-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

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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)
* Left PPI network was created from samples with mutations in the LBS of RAC2 and the right PPI network was created from samples without mutations in the LBS of RAC2. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for RAC2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0024299Lymphoma2Biomarker
umls:C1842398Neutrophil Immunodeficiency Syndrome1Biomarker, GeneticVariation
umls:C0018799Heart Diseases1Biomarker
umls:C0025202Melanoma1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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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 statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of RAC2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
GDPGUANOSINE-5'-DIPHOSPHATE1ds6AG15 C18
GDPGUANOSINE-5'-DIPHOSPHATE2w2tAG15 C18
GTPGTP2w2vAG15 C18
GTPGTP2w2vBG15 C18
GTPGTP2w2vCG15 C18
GTPGTP2w2vDG15 C18
GSPGUANOSINE 5'-[GAMMA-THIO]TRIPHOSPHATE2w2xAG15 C18 T35
GSPGUANOSINE 5'-[GAMMA-THIO]TRIPHOSPHATE2w2xBG15 C18 T35
MGMAGNESIUM(2+)1ds6AT35
MGMAGNESIUM(2+)2w2xAT35
MGMAGNESIUM(2+)2w2xBT35


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Conservation information for LBS of RAC2
Multiple alignments for P15153 in multiple species
LBSAA sequence# speciesSpecies
A13TVGDGAVGKTC4Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana
A13VVGDGAVGKTC3Homo sapiens, Mus musculus, Bos taurus
A159YIECSSKTQQN4Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana
A159YLECSALTQRG3Homo sapiens, Mus musculus, Bos taurus
C18AVGKTCMLICY4Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana
C18AVGKTCLLISY3Homo sapiens, Mus musculus, Bos taurus
D11CVTVGDGAVGK4Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana
D11CVVVGDGAVGK3Homo sapiens, Mus musculus, Bos taurus
D118VGTKLDLRDDK3Homo sapiens, Mus musculus, Bos taurus
D118VGTKLDLREDK3Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana
D118VGTKMDLREDR1Arabidopsis thaliana
D57NLGLWDTAGQE7Homo sapiens, Mus musculus, Bos taurus, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana
F28YTTNAFPGEYI3Homo sapiens, Mus musculus, Bos taurus
F28YTSNKFPTDYI3Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana
F28YTSNKFPTDYV1Oryza sativa subsp. japonica
G12VTVGDGAVGKT4Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana
G12VVVGDGAVGKT3Homo sapiens, Mus musculus, Bos taurus
G15GDGAVGKTCML4Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana
G15GDGAVGKTCLL3Homo sapiens, Mus musculus, Bos taurus
G60LWDTAGQEDYN4Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana
G60LWDTAGQEDYD3Homo sapiens, Mus musculus, Bos taurus
I33FPGEYIPTVFD3Homo sapiens, Mus musculus, Bos taurus
I33FPTDYIPTVFD3Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana
I33FPTDYVPTVFD1Oryza sativa subsp. japonica
K116ILVGTKLDLRD3Homo sapiens, Mus musculus, Bos taurus
K116VLVGTKLDLRE3Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana
K116VLVGTKMDLRE1Arabidopsis thaliana
K16DGAVGKTCMLI4Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana
K16DGAVGKTCLLI3Homo sapiens, Mus musculus, Bos taurus
L119GTKLDLRDDKD3Homo sapiens, Mus musculus, Bos taurus
L119GTKLDLREDKH3Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana
L119GTKMDLREDRH1Arabidopsis thaliana
L160IECSSKTQQNV4Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana
L160LECSALTQRGL3Homo sapiens, Mus musculus, Bos taurus
P34PGEYIPTVFDN3Homo sapiens, Mus musculus, Bos taurus
P34PTDYIPTVFDN3Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana
P34PTDYVPTVFDN1Oryza sativa subsp. japonica
S158KYLECSALTQR3Homo sapiens, Mus musculus, Bos taurus
S158YYIECSSKTQQ3Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana
S158CYIECSSKTQQ1Oryza sativa subsp. japonica
T17GAVGKTCMLIC4Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana
T17GAVGKTCLLIS3Homo sapiens, Mus musculus, Bos taurus
T35GEYIPTVFDNY3Homo sapiens, Mus musculus, Bos taurus
T35TDYIPTVFDNF3Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana
T35TDYVPTVFDNF1Oryza sativa subsp. japonica
T58LGLWDTAGQED7Homo sapiens, Mus musculus, Bos taurus, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana
V14VGDGAVGKTCM4Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana
V14VGDGAVGKTCL3Homo sapiens, Mus musculus, Bos taurus
Y32AFPGEYIPTVF3Homo sapiens, Mus musculus, Bos taurus
Y32KFPTDYIPTVF3Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana
Y32KFPTDYVPTVF1Oryza sativa subsp. japonica


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