AutismKB 2.0

Annotation Detail for ITGAV


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Basic Information Top
Gene Symbol:ITGAV ( CD51,DKFZp686A08142,MSK8,VNRA )
Gene Full Name: integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)
Band: 2q32.1
Quick LinksEntrez ID:3685; OMIM: 193210; Uniprot ID:ITAV_HUMAN; ENSEMBL ID: ENSG00000138448; HGNC ID: 6150
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04145Phagosome
hsa05410Hypertrophic cardiomyopathy (HCM)
hsa05412Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414Dilated cardiomyopathy
hsa05222Small cell lung cancer
hsa04810Regulation of actin cytoskeleton
hsa04514Cell adhesion molecules (CAMs)
hsa04512ECM-receptor interaction
hsa04510Focal adhesion
hsa05200Pathways in cancer
Pathway IDPathway Name
Axon guidance
Hemostasis
Integrin cell surface interactions
Pathway IDPathway Name
200140PDGFR-alpha signaling pathway
200161Signaling events mediated by VEGFR1 and VEGFR2
200042Osteopontin-mediated events
200109Integrins in angiogenesis
200192Signaling events mediated by focal adhesion kinase
200053Nectin adhesion pathway
Pathway IDPathway Name
P00034Integrin signalling pathway
Pathway IDPathway Name
500307PECAM1 interactions
500004Integrin cell surface interactions
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1740Alzheimer's disease
1781Rheumatoid arthritis
1850Herpes
1870Drug abuse
1918Atherosclerosis
1934Cancer
1846Pleural effusion, Malignant
Desease Name
rheumatoid arthritis
IMMUNE
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of ITGAV mRNAaffects expression 21346803
C472791 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid results in increased expression of ITGAV mRNAincreases expression 16788091
D000111 Acetylcysteine Acetylcysteine results in decreased expression of ITGAV mRNAdecreases expression 16084531
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of ITGAV proteinaffects expression 20106945
C015001 arsenite arsenite results in decreased expression of ITGAV mRNAdecreases expression 18191166
D002251 Carbon Tetrachloride Carbon Tetrachloride affects the expression of ITGAV mRNAaffects expression 17484886
D016572 Cyclosporine Cyclosporine results in increased expression of ITGAV mRNAincreases expression 20106945
C045651 epigallocatechin gallate epigallocatechin gallate results in decreased expression of ITGAV mRNAdecreases expression 16084531
D004837 Epinephrine Epinephrine results in increased expression of ITGAV mRNAincreases expression 12729923
D005472 Fluorouracil ITGAV protein affects the susceptibility to Fluorouracilaffects response to substance 16217747
D006861 Hydrogen Peroxide Hydrogen Peroxide results in decreased expression of ITGAV mRNAdecreases expression 12419474
C051890 irinotecan irinotecan metabolite results in decreased expression of ITGAV mRNAdecreases expression 15956246
C051890 irinotecan irinotecan results in decreased expression of ITGAV mRNAdecreases expression 15956246
C007350 nitrofen nitrofen results in increased expression of ITGAV proteinincreases expression 15119844
C006253 pirinixic acid NCF1 protein promotes the reaction [pirinixic acid results in decreased expression of ITGAV mRNA]decreases expression|increases reaction 17950772
C006253 pirinixic acid pirinixic acid results in decreased expression of ITGAV mRNAdecreases expression 17950772
C017947 sodium arsenite sodium arsenite results in increased expression of ITGAV mRNAincreases expression 12016162
C004648 testosterone enanthate testosterone enanthate affects the expression of ITGAV mRNAaffects expression 17440010
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.1218653653
MESH:D000230 Adenocarcinoma Fluorouracil 2.4317638652
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.5016434500
MESH:D000310 Adrenal Gland Neoplasms sodium arsenite 4.7315276417
MESH:D018246 Adrenocortical Adenoma sodium arsenite 4.9317306315 16712894
MESH:D000740 Anemia Fluorouracil 3.7116511603 17963324 15504547
MESH:D001249 Asthma epigallocatechin gallate 3.3916516891
MESH:D001327 Autoimmune Diseases epigallocatechin gallate 5.0819761891
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.1519483382
MESH:D001943 Breast Neoplasms Fluorouracil 2.4815136595 16110121 19217205 16557594 18357371 16595493 18608205
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 3.7915700767 16124888 15721981 16011737 16097048 16227642 15673190 16050911 3786805 10355542 16192424 18705752
MESH:D002276 Carcinoid Tumor Fluorouracil 4.7016051944
MESH:D002277 Carcinoma Fluorouracil 3.5717121937
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 8.8916705839
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 8.8912619106 21507988 12907637
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 8.8918788625
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 8.8917045692 18930000 16332177 17088986 16799960 17971768
MESH:D006528 Carcinoma, Hepatocellular sodium arsenite 8.8917306315 16507464 15276417
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 3.0218695887
MESH:D002294 Carcinoma, Squamous Cell Acetylcysteine 7.7117015178
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 7.7116757204 17066447 16280240 18986760
MESH:D002294 Carcinoma, Squamous Cell sodium arsenite 7.7118572023
MESH:D002318 Cardiovascular Diseases Hydrogen Peroxide 3.5116936243
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 16.096135515
MESH:D002471 Cell Transformation, Neoplastic Acetylcysteine 16.0918226522
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 16.0912371664
MESH:D002471 Cell Transformation, Neoplastic sodium arsenite 16.0920056578 19524636
MESH:D002779 Cholestasis Cyclosporine 7.7619486331
MESH:D002779 Cholestasis pirinixic acid 7.7619176532
MESH:D003110 Colonic Neoplasms arsenite 5.9715037631
MESH:D003110 Colonic Neoplasms Fluorouracil 5.9715001691 18772588 17725105 17169374 16510598 17172411 17018589 16340194 17287894 17016597
MESH:D003110 Colonic Neoplasms irinotecan 5.9717725105 17287894
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.7314970324 18509181 18949393 16282729 17094418 20501625 18288408 16524972 18448328 17454858 17016601 15148649 17594712 16303861 17255274 18383874 15289873 17401013 16391804 18802399 17695437 16331619
MESH:D015179 Colorectal Neoplasms irinotecan 2.7317454858 17159606 16303861 18259882 18509181 16391804 15273666
MESH:D019465 Craniofacial Abnormalities nitrofen 3.1411405365
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.0318551238
MESH:D003550 Cystic Fibrosis Acetylcysteine 4.3819747007
MESH:D007644 Darier Disease Fluorouracil 4.8116733453
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4318249437
MESH:D003924 Diabetes Mellitus, Type 2 epigallocatechin gallate 3.2816988119
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 6.3918551238 21346803
MESH:D056486 Drug-Induced Liver Injury Acetylcysteine 6.3911287661
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 6.399327722 15968718 11566570 19085960 6623471 16177239 4309450 2869522 17522070 16227642 19336974 7440962 7179309 21278145 3786805 10915739 15027814 7120509 6884620 3732212 10092053 15998439
MESH:D004487 Edema pirinixic acid 2.4912083418
MESH:D004827 Epilepsy Epinephrine 4.63821787
MESH:D004938 Esophageal Neoplasms Fluorouracil 2.4516481741 16337965 16785472 15173087 17638652
MESH:D005234 Fatty Liver arsenite 18.8318296743
MESH:D005234 Fatty Liver Carbon Tetrachloride 18.8315959796 17595544 12631006 16239168 12795759 16045604 19224547 61145
MESH:D005234 Fatty Liver Cyclosporine 18.8319224547
MESH:D005234 Fatty Liver pirinixic acid 18.8319236843 20131406
MESH:D005355 Fibrosis arsenite 14.9518296743
MESH:D005355 Fibrosis Carbon Tetrachloride 14.9518705752
MESH:D005355 Fibrosis Cyclosporine 14.9512639820 12168785
MESH:D005833 Genital Neoplasms, Female sodium arsenite 4.7016452187
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.248708960
MESH:D005910 Glioma Fluorouracil 2.8716145905
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.3915102660 15162350 18337622
MESH:D006330 Heart Defects, Congenital nitrofen 4.2216080930
MESH:D006333 Heart Failure pirinixic acid 2.5420558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.4415720958
MESH:D006505 Hepatitis Carbon Tetrachloride 3.6019110552 19900420
MESH:D006529 Hepatomegaly pirinixic acid 3.0118467677 16221962 19176532 19772884
MESH:D006548 Hernia, Diaphragmatic nitrofen 3.9310359170 10370016 16292651 10898224 12746050 9859898 9473106 12194112 10541330 15088113 11051153 16720372 7576705 15793718 18280291 10693666 9476886 15136996 15764645 18280292 16863852 17245593 16473863 7760232 16080930 8863223 11588001 12407540 12547725 12904592 17618886 16490937 10646786 7520565 11685700 15185205 15707848 12021965 10898222 9575882 10370017 11329586 12759764 11409163 15578192 11057544 17270546 11584395 15756563 12505043 9698600 11076806 18958481
MESH:D019247 HIV Wasting Syndrome testosterone enanthate 5.7817440010
MESH:D006689 Hodgkin Disease sodium arsenite 3.1612676792
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.5516899240
MESH:D006943 Hyperglycemia pirinixic acid 3.1920558911
MESH:D006973 Hypertension Cyclosporine 2.1010903974
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.1015338365
MESH:D007022 Hypotension Epinephrine 5.336740701
MESH:D007248 Infertility, Male sodium arsenite 2.9912646999 15346721
MESH:D007333 Insulin Resistance pirinixic acid 2.6316306350
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.4715604871
MESH:D007674 Kidney Diseases Cyclosporine 6.028314463 10903974 18776723
MESH:D007674 Kidney Diseases sodium arsenite 6.0220008137
MESH:D007676 Kidney Failure, Chronic Hydrogen Peroxide 4.2816518626
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 12.4316705839
MESH:D007680 Kidney Neoplasms Cyclosporine 12.4312371664
MESH:D007680 Kidney Neoplasms Fluorouracil 12.4316985049
MESH:D008103 Liver Cirrhosis arsenite 6.8318296743
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 6.8317334410 16943688 11903743 11408273 16221502 21278145 17157831 16239168 17174718
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 3.6015996030 18277467 18481824 15931870 16011737 14748882 20821823 14716496 17944888 16248980 15362042 12898905 12586293 17708605 15057751 14620537 12741479 18395914 18339082 17823541 16033810 15818738 13678700 18376398 15123356 15338365 18205269 17869086 16097048 15673190 17900296 15370692 18317297 12632514 18279442 18472332 15893842 12546737 11481614 14512876 10355542 17557913 18429990 16638106 17565644 12666154 16116963 12649538 17721639 17698563 16027843 16015684 18263696 18251166 14716833 12389079 15959796 12445418 18705752 18006644 15650968 15925388 18420326 18412020 18395095 16136751 12609069 17761835 15052691 17922224 17976157 18472094 14724832 18054572 18166357 15730626 16192424 17805973 17640975 17714472 18187930 17481882 12958196 18210741 12667390 12632512 18156304 17631135 15876570 17766677 17525996 12445421 18418968
MESH:D008106 Liver Cirrhosis, Experimental epigallocatechin gallate 3.6017481882
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.6015474484
MESH:D008107 Liver Diseases Carbon Tetrachloride 2.0817285989 15720792 15830285 16964402 16246199
MESH:D017093 Liver Failure Carbon Tetrachloride 4.1815123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 3.6916899240 14706259
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 18.017678174
MESH:D008113 Liver Neoplasms Aflatoxin B1 18.019163691 15890375 18177683 2125692
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 18.0119294768
MESH:D008113 Liver Neoplasms Fluorouracil 18.0118383874 17045692 15113037 16603448
MESH:D008113 Liver Neoplasms pirinixic acid 18.0120007298 16377806 15890375
MESH:D008113 Liver Neoplasms sodium arsenite 18.0116712894 15276417
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 9.886135515 2876784 2876786
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 9.888603461
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 9.8815583823 12014681
MESH:D008171 Lung Diseases Acetylcysteine 12.6412815614
MESH:D008171 Lung Diseases nitrofen 12.6416863852 9614859 9859898 17245593
MESH:D008171 Lung Diseases sodium arsenite 12.6419095001
MESH:D008175 Lung Neoplasms Aflatoxin B1 4.9114755239
MESH:D008175 Lung Neoplasms arsenite 4.9116809336
MESH:D008175 Lung Neoplasms Fluorouracil 4.9115246190
MESH:D008175 Lung Neoplasms sodium arsenite 4.9116712894 17077188 17306315 15276417 19931552
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 4.8115086387
MESH:D008545 Melanoma epigallocatechin gallate 3.7311746506 17992120
MESH:D008545 Melanoma sodium arsenite 3.7316487513 19082730
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.8216801185
MESH:D009062 Mouth Neoplasms Fluorouracil 3.6318986760 16757204
MESH:D052016 Mucositis irinotecan 5.0317159606
MESH:D009134 Muscular Atrophy, Spinal epigallocatechin gallate 5.5117962980
MESH:D009135 Muscular Diseases pirinixic acid 3.5216239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.1419151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 2.9516411023
MESH:D009336 Necrosis 2,6-dinitrotoluene 3.8818551238 7678174
MESH:D009362 Neoplasm Metastasis Acetylcysteine 6.3414720322
MESH:D009362 Neoplasm Metastasis irinotecan 6.3418259882
MESH:D009369 Neoplasms Fluorouracil 8.2718600527 16928823 18239605
MESH:D009369 Neoplasms pirinixic acid 8.2717405874
MESH:D009369 Neoplasms sodium arsenite 8.2711559025
MESH:D009374 Neoplasms, Experimental sodium arsenite 3.6820056578
MESH:D009389 Neovascularization, Pathologic arsenite 4.4315738583
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.4717954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.2918481113 19348381
MESH:D009436 Neural Tube Defects Acetylcysteine 7.6719446573
MESH:D009436 Neural Tube Defects sodium arsenite 7.6712854658
MESH:D009447 Neuroblastoma irinotecan 3.488761367
MESH:D017599 Neuroectodermal Tumors irinotecan 4.758761367
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.4416436463
MESH:D009765 Obesity pirinixic acid 1.8120558911
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.4316049721
MESH:D010051 Ovarian Neoplasms sodium arsenite 2.4317306315 15276417
MESH:D010190 Pancreatic Neoplasms Fluorouracil 2.6616929163 16500647 19003803 15113037
MESH:D010212 Papilloma Hydrogen Peroxide 4.1012065085
MESH:D011230 Precancerous Conditions Cyclosporine 3.2212371664
MESH:D011471 Prostatic Neoplasms Fluorouracil 3.3518626508 19082440
MESH:D011471 Prostatic Neoplasms sodium arsenite 3.3516039940
MESH:D011565 Psoriasis Cyclosporine 2.2316882103
MESH:D012004 Rectal Neoplasms Fluorouracil 4.0116160472 18286688 15538739 18722050
MESH:D015427 Reperfusion Injury pirinixic acid 2.3919058328
MESH:D012128 Respiratory Distress Syndrome, Adult Acetylcysteine 4.5312210543
MESH:D012640 Seizures 2,6-dinitrotoluene 2.5418551238
MESH:D012878 Skin Neoplasms Hydrogen Peroxide 5.9812065085
MESH:D012878 Skin Neoplasms sodium arsenite 5.9818572023 19524636
MESH:D016135 Spinal Dysraphism sodium arsenite 3.8012854658
MESH:D013274 Stomach Neoplasms Fluorouracil 2.7216424979 18567086 17522103 17498489 18396642 16951190 17172411 19015929 15786421 19084572
MESH:D013274 Stomach Neoplasms irinotecan 2.7215723263
MESH:D013276 Stomach Ulcer Acetylcysteine 4.0017918041
MESH:D014062 Tongue Neoplasms Fluorouracil 3.9916280240
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.1016049721
MESH:D001749 Urinary Bladder Neoplasms sodium arsenite 5.1016452187 16712894 11723127 17306315
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.3410091137
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 9.5016803524
MESH:D002583 Uterine Cervical Neoplasms sodium arsenite 9.5011813266
MESH:D014605 Uveitis Cyclosporine 4.011336536
MESH:D014652 Vascular Diseases sodium arsenite 4.4417056641
MESH:D014985 Xerophthalmia Cyclosporine 4.4717120751
Pathway ID Pathway Name
KEGG:05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
REACT:18266 Axon guidance
KEGG:04514 Cell adhesion molecules (CAMs)
KEGG:05414 Dilated cardiomyopathy
KEGG:04512 ECM-receptor interaction
KEGG:04510 Focal adhesion
REACT:604 Hemostasis
KEGG:05410 Hypertrophic cardiomyopathy (HCM)
REACT:13552 Integrin cell surface interactions
KEGG:05200 Pathways in cancer
KEGG:04145 Phagosome
KEGG:04810 Regulation of actin cytoskeleton
KEGG:05222 Small cell lung cancer
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA29950
    • No data
    Releated disease ID Related disease Name
    PA445062Neoplasms
    Releated drug ID Related drug Name
    PA164924491cilengitide
    PA448478l-arginine
    PA450635nitric oxide
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00098 - Antithymocyte globulin Immunomodulatory Agents
    No data
    No data
    No data

    Simple Query:


      (e.g. CHD8)

    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018


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