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mutLBSgeneDB |
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| Gene summary for ITGAV |
 Gene summary |
| Basic gene Info. | Gene symbol | ITGAV |
| Gene name | integrin, alpha V | |
| Synonyms | CD51|MSK8|VNRA|VTNR | |
| Cytomap | UCSC genome browser: 2q31-q32 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001144999.2, NM_001145000.2,NM_002210.4, | |
| Description | antigen identified by monoclonal antibody L230integrin alpha-Vintegrin alphaVbeta3integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)vitronectin receptor subunit alpha | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 193210 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000138448 | ||
| HPRD : 01903 | ||
| Vega : OTTHUMG00000132635 | ||
| Protein | UniProt: P06756 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ITGAV | |
| BioGPS: 3685 | ||
| Pathway | NCI Pathway Interaction Database: ITGAV | |
| KEGG: ITGAV | ||
| REACTOME: ITGAV | ||
| Pathway Commons: ITGAV | ||
| Context | iHOP: ITGAV | |
| ligand binding site mutation search in PubMed: ITGAV | ||
| UCL Cancer Institute: ITGAV | ||
| 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:0007155 | cell adhesion | 10218736 | GO:0007160 | cell-matrix adhesion | 22505472 | GO:0008284 | positive regulation of cell proliferation | 19578119 | GO:0034446 | substrate adhesion-dependent cell spreading | 24658351 | GO:0045785 | positive regulation of cell adhesion | 10708943 | GO:0050764 | regulation of phagocytosis | 10570297 | GO:0070588 | calcium ion transmembrane transport | 18395422 | GO:2000536 | negative regulation of entry of bacterium into host cell | 10570297 |
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| Ligand binding site mutations for ITGAV |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | Q350 | D352Y | COAD | 1 | D287 | R287C | SKCM | 1 | D287 | G288D | UCEC | 1 | F385,D383 | M384I | UCEC | 1 | D322 | F324C | 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. |
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| 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 |
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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 | D287 | G288D | -1.1004863 | D322 | F324C | -0.79971047 |
| (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 |
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| 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) |
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| Phenotype information for ITGAV |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C2937358 | Cerebral Hemorrhage | 1 | Biomarker |
| umls:C0038454 | Stroke | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| 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. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved | DB00098 | Anti-thymocyte Globulin (Rabbit) | Biotech |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ITGAV 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 ITGAV |
| Multiple alignments for P06756 in multiple species |
| LBS | AA sequence | # species | Species | A245 | TRTAQAIFDDS | 3 | Homo sapiens, Mus musculus, Bos taurus | A245 | TRPASAAFDDS | 1 | Gallus gallus | A321 | NGDDYADVFIG | 3 | Homo sapiens, Mus musculus, Bos taurus | A321 | NGDDYTDLFIG | 1 | Gallus gallus | A467 | AILYRARPVIT | 1 | Homo sapiens | A467 | AVLYRARPVIR | 1 | Gallus gallus | A467 | AVLYRARPVVT | 1 | Mus musculus | A467 | AVLYRARPVIT | 1 | Bos taurus | C626 | HILLDCGEDNV | 3 | Homo sapiens, Mus musculus, Bos taurus | C626 | HILLDCGEDNI | 1 | Gallus gallus | C632 | GEDNVCKPKLE | 3 | Homo sapiens, Mus musculus, Bos taurus | C632 | GEDNICKPKLE | 1 | Gallus gallus | D180 | KNIDADGQGFC | 2 | Mus musculus, Bos taurus | D180 | QDIDADGQGFC | 1 | Homo sapiens | D180 | TTIDADGQGFC | 1 | Gallus gallus | D248 | AQAIFDDSYLG | 3 | Homo sapiens, Mus musculus, Bos taurus | D248 | ASAAFDDSYLG | 1 | Gallus gallus | D260 | SVAVGDFNGDG | 3 | Homo sapiens, Mus musculus, Bos taurus | D260 | SVAVGDFSGDG | 1 | Gallus gallus | D264 | GDFNGDGIDDF | 2 | Homo sapiens, Bos taurus | D264 | GDFSGDGIEDF | 1 | Gallus gallus | D264 | GDFNGDGIEDF | 1 | Mus musculus | D267 | NGDGIDDFVSG | 2 | Homo sapiens, Bos taurus | D267 | SGDGIEDFVSG | 1 | Gallus gallus | D267 | NGDGIEDFVSG | 1 | Mus musculus | D268 | GDGIDDFVSGV | 2 | Homo sapiens, Bos taurus | D268 | GDGIEDFVSGV | 2 | Gallus gallus, Mus musculus | D287 | MVYIYDGKNMS | 3 | Homo sapiens, Mus musculus, Bos taurus | D287 | MVSIYNGKNMS | 1 | Gallus gallus | D314 | SVAATDINGDD | 3 | Homo sapiens, Mus musculus, Bos taurus | D314 | SVATTDINGDD | 1 | Gallus gallus | D318 | TDINGDDYADV | 3 | Homo sapiens, Mus musculus, Bos taurus | D318 | TDINGDDYTDL | 1 | Gallus gallus | D322 | GDDYADVFIGA | 3 | Homo sapiens, Mus musculus, Bos taurus | D322 | GDDYTDLFIGA | 1 | Gallus gallus | D379 | IAPLGDLDQDG | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | D381 | PLGDLDQDGFN | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | D383 | GDLDQDGFNDI | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | D387 | QDGFNDIAIAA | 3 | Homo sapiens, Mus musculus, Bos taurus | D387 | QDGFNDIAVAA | 1 | Gallus gallus | D443 | MKGATDIDKNG | 2 | Homo sapiens, Bos taurus | D443 | LKGATDVDKNG | 1 | Gallus gallus | D443 | MKGATDVDRNG | 1 | Mus musculus | D445 | GATDIDKNGYP | 2 | Homo sapiens, Bos taurus | D445 | GATDVDKNGYP | 1 | Gallus gallus | D445 | GATDVDRNGYP | 1 | Mus musculus | D451 | KNGYPDLIVGA | 3 | Homo sapiens, Gallus gallus, Bos taurus | D451 | RNGYPDLVVGA | 1 | Mus musculus | D629 | LDCGEDNVCKP | 3 | Homo sapiens, Mus musculus, Bos taurus | D629 | LDCGEDNICKP | 1 | Gallus gallus | E666 | AQNQGEGAYEA | 3 | Homo sapiens, Mus musculus, Bos taurus | E666 | AENQGEGAYEA | 1 | Gallus gallus | F207 | GGPGSFYWQGQ | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | F261 | VAVGDFNGDGI | 3 | Homo sapiens, Mus musculus, Bos taurus | F261 | VAVGDFSGDGI | 1 | Gallus gallus | F385 | LDQDGFNDIAI | 3 | Homo sapiens, Mus musculus, Bos taurus | F385 | LDQDGFNDIAV | 1 | Gallus gallus | G265 | DFNGDGIDDFV | 2 | Homo sapiens, Bos taurus | G265 | DFSGDGIEDFV | 1 | Gallus gallus | G265 | DFNGDGIEDFV | 1 | Mus musculus | G408 | VYIFNGRSTGL | 2 | Homo sapiens, Mus musculus | G408 | VYIYNGRATGL | 1 | Gallus gallus | G408 | VYIFNGRPTGL | 1 | Bos taurus | G627 | ILLDCGEDNVC | 3 | Homo sapiens, Mus musculus, Bos taurus | G627 | ILLDCGEDNIC | 1 | Gallus gallus | I266 | FNGDGIDDFVS | 2 | Homo sapiens, Bos taurus | I266 | FSGDGIEDFVS | 1 | Gallus gallus | I266 | FNGDGIEDFVS | 1 | Mus musculus | I315 | VAATDINGDDY | 3 | Homo sapiens, Mus musculus, Bos taurus | I315 | VATTDINGDDY | 1 | Gallus gallus | K633 | EDNVCKPKLEV | 3 | Homo sapiens, Mus musculus, Bos taurus | K633 | EDNICKPKLEV | 1 | Gallus gallus | L380 | APLGDLDQDGF | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | N262 | AVGDFNGDGID | 2 | Homo sapiens, Bos taurus | N262 | AVGDFSGDGIE | 1 | Gallus gallus | N262 | AVGDFNGDGIE | 1 | Mus musculus | N316 | AATDINGDDYA | 3 | Homo sapiens, Mus musculus, Bos taurus | N316 | ATTDINGDDYT | 1 | Gallus gallus | N386 | DQDGFNDIAIA | 3 | Homo sapiens, Mus musculus, Bos taurus | N386 | DQDGFNDIAVA | 1 | Gallus gallus | N407 | IVYIFNGRSTG | 1 | Homo sapiens | N407 | LVYIYNGRATG | 1 | Gallus gallus | N407 | LVYIFNGRSTG | 1 | Mus musculus | N407 | IVYIFNGRPTG | 1 | Bos taurus | N447 | TDIDKNGYPDL | 2 | Homo sapiens, Bos taurus | N447 | TDVDKNGYPDL | 1 | Gallus gallus | N447 | TDVDRNGYPDL | 1 | Mus musculus | N630 | DCGEDNVCKPK | 3 | Homo sapiens, Mus musculus, Bos taurus | N630 | DCGEDNICKPK | 1 | Gallus gallus | P450 | DKNGYPDLIVG | 3 | Homo sapiens, Gallus gallus, Bos taurus | P450 | DRNGYPDLVVG | 1 | Mus musculus | Q210 | GSFYWQGQLIS | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | Q350 | VSVSLQRASGD | 1 | Homo sapiens | Q350 | VSICLQRASGG | 1 | Gallus gallus | Q350 | VSVSLQRAVGD | 1 | Mus musculus | Q350 | VSVSLQKASGD | 1 | Bos taurus | V631 | CGEDNVCKPKL | 3 | Homo sapiens, Mus musculus, Bos taurus | V631 | CGEDNICKPKL | 1 | Gallus gallus | Y208 | GPGSFYWQGQL | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | Y320 | INGDDYADVFI | 3 | Homo sapiens, Mus musculus, Bos taurus | Y320 | INGDDYTDLFI | 1 | Gallus gallus | Y449 | IDKNGYPDLIV | 2 | Homo sapiens, Bos taurus | Y449 | VDKNGYPDLIV | 1 | Gallus gallus | Y449 | VDRNGYPDLVV | 1 | Mus musculus |
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