mutated Ligand Binding Site gene DataBase





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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 ITGAV
Gene summary
Basic gene Info.Gene symbolITGAV
Gene nameintegrin, alpha V
CytomapUCSC genome browser: 2q31-q32
Type of geneprotein-coding
Descriptionantigen identified by monoclonal antibody L230integrin alpha-Vintegrin alphaVbeta3integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)vitronectin receptor subunit alpha
Modification date20141222
dbXrefs MIM : 193210
Ensembl : ENSG00000138448
HPRD : 01903
Vega : OTTHUMG00000132635
ProteinUniProt: P06756
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ITGAV
BioGPS: 3685
PathwayNCI Pathway Interaction Database: ITGAV
Pathway Commons: ITGAV
ContextiHOP: ITGAV
ligand binding site mutation search in PubMed: ITGAV
UCL Cancer Institute: ITGAV
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0007155cell adhesion10218736
GO:0007160cell-matrix adhesion22505472
GO:0008284positive regulation of cell proliferation19578119
GO:0034446substrate adhesion-dependent cell spreading24658351
GO:0045785positive regulation of cell adhesion10708943
GO:0050764regulation of phagocytosis10570297
GO:0070588calcium ion transmembrane transport18395422
GO:2000536negative regulation of entry of bacterium into host cell10570297

Ligand binding site mutations for ITGAV

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for ITGAV
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
(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 ITGAV from PDB

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


Phenotype information for ITGAV
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C2937358Cerebral Hemorrhage1Biomarker

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

Pharmacological information for ITGAV
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ApprovedDB00098Anti-thymocyte Globulin (Rabbit)Biotech

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ITGAV go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of ITGAV
Multiple alignments for P06756 in multiple species
LBSAA sequence# speciesSpecies
A245TRTAQAIFDDS3Homo sapiens, Mus musculus, Bos taurus
A245TRPASAAFDDS1Gallus gallus
A321NGDDYADVFIG3Homo sapiens, Mus musculus, Bos taurus
A321NGDDYTDLFIG1Gallus gallus
A467AILYRARPVIT1Homo sapiens
A467AVLYRARPVIR1Gallus gallus
A467AVLYRARPVVT1Mus musculus
A467AVLYRARPVIT1Bos taurus
C626HILLDCGEDNV3Homo sapiens, Mus musculus, Bos taurus
C626HILLDCGEDNI1Gallus gallus
C632GEDNVCKPKLE3Homo sapiens, Mus musculus, Bos taurus
C632GEDNICKPKLE1Gallus gallus
D180KNIDADGQGFC2Mus musculus, Bos taurus
D180QDIDADGQGFC1Homo sapiens
D180TTIDADGQGFC1Gallus gallus
D248AQAIFDDSYLG3Homo sapiens, Mus musculus, Bos taurus
D248ASAAFDDSYLG1Gallus gallus
D260SVAVGDFNGDG3Homo sapiens, Mus musculus, Bos taurus
D260SVAVGDFSGDG1Gallus gallus
D264GDFNGDGIDDF2Homo sapiens, Bos taurus
D264GDFSGDGIEDF1Gallus gallus
D264GDFNGDGIEDF1Mus musculus
D267NGDGIDDFVSG2Homo sapiens, Bos taurus
D267SGDGIEDFVSG1Gallus gallus
D267NGDGIEDFVSG1Mus musculus
D268GDGIDDFVSGV2Homo sapiens, Bos taurus
D268GDGIEDFVSGV2Gallus gallus, Mus musculus
D287MVYIYDGKNMS3Homo sapiens, Mus musculus, Bos taurus
D287MVSIYNGKNMS1Gallus gallus
D314SVAATDINGDD3Homo sapiens, Mus musculus, Bos taurus
D314SVATTDINGDD1Gallus gallus
D318TDINGDDYADV3Homo sapiens, Mus musculus, Bos taurus
D318TDINGDDYTDL1Gallus gallus
D322GDDYADVFIGA3Homo sapiens, Mus musculus, Bos taurus
D322GDDYTDLFIGA1Gallus gallus
D379IAPLGDLDQDG4Homo sapiens, Gallus gallus, Mus musculus, Bos taurus
D381PLGDLDQDGFN4Homo sapiens, Gallus gallus, Mus musculus, Bos taurus
D383GDLDQDGFNDI4Homo sapiens, Gallus gallus, Mus musculus, Bos taurus
D387QDGFNDIAIAA3Homo sapiens, Mus musculus, Bos taurus
D387QDGFNDIAVAA1Gallus gallus
D443MKGATDIDKNG2Homo sapiens, Bos taurus
D443LKGATDVDKNG1Gallus gallus
D443MKGATDVDRNG1Mus musculus
D445GATDIDKNGYP2Homo sapiens, Bos taurus
D445GATDVDKNGYP1Gallus gallus
D445GATDVDRNGYP1Mus musculus
D451KNGYPDLIVGA3Homo sapiens, Gallus gallus, Bos taurus
D451RNGYPDLVVGA1Mus musculus
D629LDCGEDNVCKP3Homo sapiens, Mus musculus, Bos taurus
D629LDCGEDNICKP1Gallus gallus
E666AQNQGEGAYEA3Homo sapiens, Mus musculus, Bos taurus
E666AENQGEGAYEA1Gallus gallus
F207GGPGSFYWQGQ4Homo sapiens, Gallus gallus, Mus musculus, Bos taurus
F261VAVGDFNGDGI3Homo sapiens, Mus musculus, Bos taurus
F261VAVGDFSGDGI1Gallus gallus
F385LDQDGFNDIAI3Homo sapiens, Mus musculus, Bos taurus
F385LDQDGFNDIAV1Gallus gallus
G265DFNGDGIDDFV2Homo sapiens, Bos taurus
G265DFSGDGIEDFV1Gallus gallus
G265DFNGDGIEDFV1Mus musculus
G408VYIFNGRSTGL2Homo sapiens, Mus musculus
G408VYIYNGRATGL1Gallus gallus
G408VYIFNGRPTGL1Bos taurus
G627ILLDCGEDNVC3Homo sapiens, Mus musculus, Bos taurus
G627ILLDCGEDNIC1Gallus gallus
I266FNGDGIDDFVS2Homo sapiens, Bos taurus
I266FSGDGIEDFVS1Gallus gallus
I266FNGDGIEDFVS1Mus musculus
I315VAATDINGDDY3Homo sapiens, Mus musculus, Bos taurus
I315VATTDINGDDY1Gallus gallus
K633EDNVCKPKLEV3Homo sapiens, Mus musculus, Bos taurus
K633EDNICKPKLEV1Gallus gallus
L380APLGDLDQDGF4Homo sapiens, Gallus gallus, Mus musculus, Bos taurus
N262AVGDFNGDGID2Homo sapiens, Bos taurus
N262AVGDFSGDGIE1Gallus gallus
N262AVGDFNGDGIE1Mus musculus
N316AATDINGDDYA3Homo sapiens, Mus musculus, Bos taurus
N316ATTDINGDDYT1Gallus gallus
N386DQDGFNDIAIA3Homo sapiens, Mus musculus, Bos taurus
N386DQDGFNDIAVA1Gallus gallus
N407IVYIFNGRSTG1Homo sapiens
N407LVYIYNGRATG1Gallus gallus
N407LVYIFNGRSTG1Mus musculus
N407IVYIFNGRPTG1Bos taurus
N447TDIDKNGYPDL2Homo sapiens, Bos taurus
N447TDVDKNGYPDL1Gallus gallus
N447TDVDRNGYPDL1Mus musculus
N630DCGEDNVCKPK3Homo sapiens, Mus musculus, Bos taurus
N630DCGEDNICKPK1Gallus gallus
P450DKNGYPDLIVG3Homo sapiens, Gallus gallus, Bos taurus
P450DRNGYPDLVVG1Mus musculus
Q210GSFYWQGQLIS4Homo sapiens, Gallus gallus, Mus musculus, Bos taurus
Q350VSVSLQRASGD1Homo sapiens
Q350VSICLQRASGG1Gallus gallus
Q350VSVSLQRAVGD1Mus musculus
Q350VSVSLQKASGD1Bos taurus
V631CGEDNVCKPKL3Homo sapiens, Mus musculus, Bos taurus
V631CGEDNICKPKL1Gallus gallus
Y208GPGSFYWQGQL4Homo sapiens, Gallus gallus, Mus musculus, Bos taurus
Y320INGDDYADVFI3Homo sapiens, Mus musculus, Bos taurus
Y320INGDDYTDLFI1Gallus gallus
Y449IDKNGYPDLIV2Homo sapiens, Bos taurus
Y449VDKNGYPDLIV1Gallus gallus
Y449VDRNGYPDLVV1Mus musculus

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