ITGAV (integrin subunit alpha V) - Rat Genome Database
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Gene: ITGAV (integrin subunit alpha V) Homo sapiens
Analyze
Symbol: ITGAV
Name: integrin subunit alpha V
RGD ID: 1321618
HGNC Page HGNC
Description: Exhibits several functions, including extracellular matrix protein binding activity; fibronectin binding activity; and integrin binding activity. Contributes to C-X3-C chemokine binding activity and growth factor binding activity. Involved in several processes, including apolipoprotein A-I-mediated signaling pathway; negative regulation of lipid localization; and regulation of vesicle-mediated transport. Localizes to several cellular components, including alphav-beta3 integrin-HMGB1 complex; cell projection membrane; and integrin complex. Implicated in abdominal aortic aneurysm and acute myeloid leukemia. Biomarker of hyperglycemia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: antigen identified by monoclonal antibody L230; CD51; DKFZp686A08142; integrin alpha V; integrin alpha-V; integrin alphaVbeta3; integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51); MSK8; vitronectin receptor; vitronectin receptor subunit alpha; VNRA; VTNR
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2186,590,056 - 186,680,901 (+)EnsemblGRCh38hg38GRCh38
GRCh382186,590,056 - 186,680,901 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372187,454,783 - 187,545,628 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362187,163,045 - 187,253,873 (+)NCBINCBI36hg18NCBI36
Build 342187,280,305 - 187,371,133NCBI
Celera2181,050,405 - 181,141,257 (+)NCBI
Cytogenetic Map2q32.1NCBI
HuRef2179,314,524 - 179,405,486 (+)NCBIHuRef
CHM1_12187,460,842 - 187,551,625 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(R)-adrenaline  (EXP)
(S)-nicotine  (ISO)
1-chloro-2,4-dinitrobenzene  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,6-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-vinylcyclohexene dioxide  (ISO)
5-fluorouracil  (EXP)
acrolein  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (EXP,ISO)
alpha-hexylcinnamaldehyde  (ISO)
alpha-pinene  (EXP)
Arg-Gly-Asp  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP)
bisphenol A  (ISO)
bisphenol F  (ISO)
bortezomib  (EXP)
cadmium dichloride  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chloropicrin  (EXP)
choline  (ISO)
cisplatin  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
D-glucose  (EXP)
dabrafenib  (EXP)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
disulfiram  (EXP)
dorsomorphin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fenamidone  (ISO)
fenhexamid  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
gefitinib  (ISO)
gemcitabine  (EXP)
genistein  (EXP)
glucose  (EXP)
glyphosate  (EXP)
hydrogen peroxide  (EXP)
irinotecan  (EXP)
isotretinoin  (EXP)
L-methionine  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
lipopolysaccharide  (EXP)
LY294002  (EXP)
manganese(II) chloride  (EXP)
methyl methanesulfonate  (EXP)
methyl salicylate  (ISO)
monosodium L-glutamate  (ISO)
N-acetyl-L-cysteine  (EXP)
niclosamide  (EXP)
nicotine  (ISO)
nitrofen  (ISO)
nonanoic acid  (ISO)
ouabain  (EXP)
oxaliplatin  (ISO)
ozone  (EXP)
paracetamol  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
phthalaldehyde  (ISO)
pioglitazone  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
Ptaquiloside  (ISO)
quercetin  (EXP,ISO)
rebaudioside A  (EXP)
resveratrol  (EXP)
rimonabant  (ISO)
SB 431542  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sirolimus  (ISO)
sodium arsenite  (EXP)
Soman  (ISO)
steviol  (EXP)
stevioside  (EXP)
streptozocin  (ISO)
succimer  (ISO)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (EXP)
topotecan  (ISO)
trimellitic anhydride  (ISO)
troglitazone  (EXP,ISO)
valproic acid  (EXP)
wortmannin  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
angiogenesis  (IEP,ISO)
antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent  (TAS)
apolipoprotein A-I-mediated signaling pathway  (IMP)
apoptotic cell clearance  (IGI,ISO,ISS)
blood vessel development  (ISO)
calcium ion transmembrane transport  (IDA)
cell adhesion  (IDA,IEA)
cell adhesion mediated by integrin  (IDA,ISO)
cell migration  (ISO)
cell-matrix adhesion  (IMP,NAS)
cell-substrate adhesion  (IMP)
endodermal cell differentiation  (IMP)
entry into host cell by a symbiont-containing vacuole  (NAS)
ERK1 and ERK2 cascade  (ISO,ISS)
extracellular matrix organization  (TAS)
extrinsic apoptotic signaling pathway in absence of ligand  (ISO,ISS)
heterotypic cell-cell adhesion  (IMP)
integrin-mediated signaling pathway  (IEA,NAS)
leukocyte migration  (TAS)
negative chemotaxis  (IMP)
negative regulation of entry of bacterium into host cell  (IDA)
negative regulation of extrinsic apoptotic signaling pathway  (IMP)
negative regulation of lipid storage  (IMP)
negative regulation of lipid transport  (IMP)
negative regulation of lipoprotein metabolic process  (IMP)
negative regulation of low-density lipoprotein receptor activity  (IMP)
negative regulation of macrophage derived foam cell differentiation  (IMP)
neutrophil degranulation  (TAS)
positive regulation of cell adhesion  (IDA)
positive regulation of cell migration  (IEA,ISO)
positive regulation of cell population proliferation  (IDA,ISO)
positive regulation of cytosolic calcium ion concentration  (IEA,ISO)
positive regulation of osteoblast proliferation  (IEA,ISO)
regulation of phagocytosis  (IDA)
regulation of transforming growth factor beta activation  (IDA)
substrate adhesion-dependent cell spreading  (IDA)
transforming growth factor beta production  (IEA,ISO)
vascular endothelial growth factor receptor signaling pathway  (TAS)
vasculogenesis  (IEA,ISO)
viral entry into host cell  (IMP,TAS)

References

References - curated
1. Arteaga RB, etal., Am J Cardiol. 2006 Jul 1;98(1):70-4. Epub 2006 May 4.
2. Bonnet S, etal., Proc Natl Acad Sci U S A. 2007 Jul 3;104(27):11418-23. Epub 2007 Jun 27.
3. Campbell S, etal., Endocrinology. 2003 Apr;144(4):1486-95.
4. Chettab K, etal., Thromb Haemost. 2002 Jan;87(1):141-8.
5. Choi ET, etal., Circulation. 2004 Mar 30;109(12):1564-9. Epub 2004 Mar 8.
6. Choke E, etal., Arterioscler Thromb Vasc Biol. 2006 Sep;26(9):2077-82. Epub 2006 Jun 29.
7. GOA_HUMAN data from the GO Consortium
8. Heerkens EH, etal., Hypertension. 2006 Feb;47(2):281-7. Epub 2005 Dec 27.
9. Hynes RO Cell 2002 Sep 20;110(6):673-87.
10. Klotz O, etal., Graefes Arch Clin Exp Ophthalmol. 2000 Jan;238(1):88-93.
11. Lee KH, etal., J Nucl Med. 2005 Mar;46(3):472-8.
12. Miller PG, etal., Cancer Cell. 2013 Jul 8;24(1):45-58. doi: 10.1016/j.ccr.2013.05.004. Epub 2013 Jun 13.
13. Pipeline to import KEGG annotations from KEGG into RGD
14. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
15. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
16. RGD automated import pipeline for gene-chemical interactions
17. Takada Y, etal., Genome Biol. 2007;8(5):215.
18. Takagi H, etal., Jpn J Ophthalmol. 2002 May-Jun;46(3):270-8.
19. Yamani MH, etal., Circulation. 2002 Apr 23;105(16):1955-61.
20. Yamani MH, etal., J Heart Lung Transplant. 2005 Aug;24(8):1014-8.
21. Yasukawa T, etal., Curr Eye Res. 2004 May;28(5):359-66.
Additional References at PubMed
PMID:1532572   PMID:1690718   PMID:1693624   PMID:1694173   PMID:1918072   PMID:2138612   PMID:2202737   PMID:2430295   PMID:2443500   PMID:2450560   PMID:2454952   PMID:2467745  
PMID:2478219   PMID:7505120   PMID:7522056   PMID:7525578   PMID:7539135   PMID:7545239   PMID:7592829   PMID:7678549   PMID:7682219   PMID:7689573   PMID:7690138   PMID:8034133  
PMID:8120056   PMID:8294396   PMID:8538749   PMID:8599839   PMID:8757349   PMID:8798654   PMID:9108459   PMID:9133434   PMID:9251239   PMID:9256940   PMID:9443892   PMID:9517988  
PMID:9626063   PMID:9686320   PMID:9789327   PMID:9813179   PMID:9916748   PMID:10037797   PMID:10218736   PMID:10397733   PMID:10438928   PMID:10537314   PMID:10545994   PMID:10549293  
PMID:10570297   PMID:10640428   PMID:10708943   PMID:10715259   PMID:10749942   PMID:10821835   PMID:10835423   PMID:10837460   PMID:10871287   PMID:10891446   PMID:10965141   PMID:10982404  
PMID:11134507   PMID:11162558   PMID:11278329   PMID:11287419   PMID:11331301   PMID:11435317   PMID:11546839   PMID:11577104   PMID:11683411   PMID:11706074   PMID:11724803   PMID:11741954  
PMID:11821050   PMID:11858476   PMID:11866539   PMID:11872628   PMID:11877390   PMID:11882657   PMID:11884718   PMID:11927607   PMID:11928818   PMID:11934894   PMID:11953315   PMID:11959660  
PMID:11970960   PMID:11988838   PMID:11997396   PMID:12031826   PMID:12042322   PMID:12082152   PMID:12083833   PMID:12099514   PMID:12143051   PMID:12161360   PMID:12168086   PMID:12177807  
PMID:12193380   PMID:12196561   PMID:12198771   PMID:12210725   PMID:12237112   PMID:12237321   PMID:12270930   PMID:12324452   PMID:12324470   PMID:12356872   PMID:12358597   PMID:12364323  
PMID:12370491   PMID:12372469   PMID:12372811   PMID:12384999   PMID:12399420   PMID:12427871   PMID:12459484   PMID:12477932   PMID:12486108   PMID:12553378   PMID:12639965   PMID:12642872  
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PMID:12893184   PMID:12902636   PMID:12917446   PMID:14524530   PMID:14596610   PMID:14666169   PMID:14741360   PMID:14766759   PMID:14963009   PMID:14966135   PMID:15044441   PMID:15051489  
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PMID:15998788   PMID:16005200   PMID:16014375   PMID:16024014   PMID:16099422   PMID:16100012   PMID:16105876   PMID:16150802   PMID:16166568   PMID:16186116   PMID:16344560   PMID:16373656  
PMID:16385340   PMID:16400188   PMID:16407244   PMID:16424009   PMID:16448724   PMID:16496302   PMID:16600665   PMID:16614246   PMID:16631740   PMID:16631833   PMID:16672769   PMID:16675963  
PMID:16702213   PMID:16731529   PMID:16790523   PMID:16818691   PMID:16835373   PMID:16877343   PMID:16947382   PMID:16973584   PMID:17034033   PMID:17158881   PMID:17175151   PMID:17275949  
PMID:17300927   PMID:17331499   PMID:17369840   PMID:17408468   PMID:17446174   PMID:17483236   PMID:17550972   PMID:17615072   PMID:17621633   PMID:17641225   PMID:17854909   PMID:17879163  
PMID:17925226   PMID:17965016   PMID:18029348   PMID:18045938   PMID:18062611   PMID:18064530   PMID:18079201   PMID:18084301   PMID:18090124   PMID:18191107   PMID:18211678   PMID:18221819  
PMID:18227168   PMID:18247041   PMID:18310319   PMID:18310446   PMID:18331351   PMID:18345483   PMID:18349127   PMID:18353318   PMID:18353785   PMID:18357713   PMID:18364349   PMID:18394009  
PMID:18395422   PMID:18427826   PMID:18441324   PMID:18445685   PMID:18451156   PMID:18549690   PMID:18550570   PMID:18635536   PMID:18648521   PMID:18694400   PMID:18695916   PMID:18698261  
PMID:18781095   PMID:18814143   PMID:18821851   PMID:18844213   PMID:18854176   PMID:18927433   PMID:19017937   PMID:19037107   PMID:19056867   PMID:19061491   PMID:19074851   PMID:19088289  
PMID:19118218   PMID:19141530   PMID:19164533   PMID:19212436   PMID:19212638   PMID:19255147   PMID:19267182   PMID:19334037   PMID:19371633   PMID:19435649   PMID:19448673   PMID:19475568  
PMID:19487690   PMID:19541645   PMID:19549907   PMID:19578119   PMID:19581046   PMID:19581412   PMID:19590686   PMID:19617625   PMID:19695571   PMID:19704023   PMID:19710103   PMID:19738201  
PMID:19751734   PMID:19808093   PMID:19808644   PMID:19811096   PMID:19815712   PMID:19818132   PMID:19837659   PMID:19882657   PMID:19888429   PMID:19888537   PMID:19889638   PMID:19910644  
PMID:19913121   PMID:19933311   PMID:19998373   PMID:20019187   PMID:20026907   PMID:20033473   PMID:20037822   PMID:20121756   PMID:20158572   PMID:20224109   PMID:20306691   PMID:20379614  
PMID:20400979   PMID:20458337   PMID:20477989   PMID:20519501   PMID:20554778   PMID:20558745   PMID:20563599   PMID:20600001   PMID:20605574   PMID:20615244   PMID:20626753   PMID:20628086  
PMID:20628624   PMID:20638909   PMID:20639902   PMID:20672329   PMID:20682778   PMID:20715172   PMID:20719960   PMID:20826760   PMID:20837477   PMID:20838674   PMID:20857483   PMID:20926544  
PMID:20942236   PMID:20945385   PMID:20972812   PMID:21037076   PMID:21098231   PMID:21116829   PMID:21135163   PMID:21150164   PMID:21178476   PMID:21182210   PMID:21283814   PMID:21310825  
PMID:21321266   PMID:21321268   PMID:21344378   PMID:21347514   PMID:21352421   PMID:21375561   PMID:21379327   PMID:21423176   PMID:21425129   PMID:21427239   PMID:21433063   PMID:21530503  
PMID:21590707   PMID:21646718   PMID:21677751   PMID:21677875   PMID:21712047   PMID:21748756   PMID:21752283   PMID:21764795   PMID:21787362   PMID:21853313   PMID:21957301   PMID:21978494  
PMID:22081074   PMID:22081516   PMID:22094875   PMID:22110279   PMID:22132110   PMID:22174124   PMID:22178926   PMID:22268729   PMID:22278742   PMID:22308022   PMID:22349830   PMID:22362758  
PMID:22469980   PMID:22505472   PMID:22528484   PMID:22547930   PMID:22566688   PMID:22614033   PMID:22659470   PMID:22710795   PMID:22719931   PMID:22721769   PMID:22787119   PMID:22837212  
PMID:22879933   PMID:22939629   PMID:22966907   PMID:22975325   PMID:23022044   PMID:23028753   PMID:23053782   PMID:23106217   PMID:23119061   PMID:23125415   PMID:23128103   PMID:23150579  
PMID:23152803   PMID:23154389   PMID:23161541   PMID:23181508   PMID:23204516   PMID:23227240   PMID:23238957   PMID:23254288   PMID:23261238   PMID:23269786   PMID:23283986   PMID:23331428  
PMID:23376485   PMID:23381805   PMID:23386126   PMID:23399898   PMID:23412966   PMID:23462327   PMID:23533145   PMID:23544955   PMID:23615713   PMID:23618859   PMID:23640055   PMID:23658023  
PMID:23704872   PMID:23722547   PMID:23725446   PMID:23726972   PMID:23744557   PMID:23776077   PMID:23821196   PMID:23840404   PMID:23845472   PMID:23845726   PMID:23874206   PMID:23898055  
PMID:23992637   PMID:24011356   PMID:24023288   PMID:24150233   PMID:24294359   PMID:24362527   PMID:24363825   PMID:24367260   PMID:24375314   PMID:24389192   PMID:24412187   PMID:24424369  
PMID:24464580   PMID:24478423   PMID:24498405   PMID:24515920   PMID:24573955   PMID:24639195   PMID:24658351   PMID:24690239   PMID:24695839   PMID:24699825   PMID:24737028   PMID:24737780  
PMID:24785587   PMID:24789099   PMID:24939290   PMID:24942591   PMID:25063885   PMID:25117682   PMID:25150077   PMID:25150423   PMID:25174803   PMID:25190218   PMID:25193465   PMID:25249331  
PMID:25263164   PMID:25273699   PMID:25275062   PMID:25277122   PMID:25290158   PMID:25318615   PMID:25320004   PMID:25370835   PMID:25383667   PMID:25398877   PMID:25488971   PMID:25497015  
PMID:25572981   PMID:25604835   PMID:25663698   PMID:25745053   PMID:25749383   PMID:25792870   PMID:25849225   PMID:25857463   PMID:25858144   PMID:25862865   PMID:25889845   PMID:25900259  
PMID:25921289   PMID:25982998   PMID:26157134   PMID:26165836   PMID:26186194   PMID:26222911   PMID:26334633   PMID:26344197   PMID:26354767   PMID:26496610   PMID:26514956   PMID:26621838  
PMID:26663660   PMID:26719354   PMID:26846197   PMID:26901152   PMID:26902100   PMID:26918452   PMID:27003228   PMID:27076771   PMID:27108184   PMID:27128974   PMID:27145276   PMID:27173435  
PMID:27233075   PMID:27248172   PMID:27279620   PMID:27283740   PMID:27295308   PMID:27363302   PMID:27420801   PMID:27466481   PMID:27476161   PMID:27553273   PMID:27593923   PMID:27606892  
PMID:27695111   PMID:27769864   PMID:27782111   PMID:27819680   PMID:27864802   PMID:27906177   PMID:27927700   PMID:27929116   PMID:27974569   PMID:27993971   PMID:28086938   PMID:28117447  
PMID:28190175   PMID:28190767   PMID:28302677   PMID:28314844   PMID:28376277   PMID:28484027   PMID:28514442   PMID:28646039   PMID:28650456   PMID:28682441   PMID:28695371   PMID:28730778  
PMID:28873464   PMID:28943429   PMID:28973887   PMID:29097183   PMID:29117863   PMID:29152665   PMID:29162887   PMID:29180619   PMID:29184982   PMID:29282362   PMID:29395067   PMID:29453316  
PMID:29507755   PMID:29568061   PMID:29577899   PMID:29603594   PMID:29743605   PMID:29798908   PMID:29882028   PMID:30049512   PMID:30061598   PMID:30074214   PMID:30120307   PMID:30333317  
PMID:30355650   PMID:30359079   PMID:30367545   PMID:30472097   PMID:30486830   PMID:30552383   PMID:31033358   PMID:31056421   PMID:31199988   PMID:31243731   PMID:31285770   PMID:31319863  
PMID:31331973   PMID:31343991   PMID:31366904   PMID:31429823   PMID:31532212   PMID:31536960   PMID:31541017   PMID:31741433   PMID:31792290   PMID:31904487   PMID:32164941   PMID:32814053  


Genomics

Candidate Gene Status
ITGAV is a candidate Gene for QTL MAMTS44_H
Comparative Map Data
ITGAV
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2186,590,056 - 186,680,901 (+)EnsemblGRCh38hg38GRCh38
GRCh382186,590,056 - 186,680,901 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372187,454,783 - 187,545,628 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362187,163,045 - 187,253,873 (+)NCBINCBI36hg18NCBI36
Build 342187,280,305 - 187,371,133NCBI
Celera2181,050,405 - 181,141,257 (+)NCBI
Cytogenetic Map2q32.1NCBI
HuRef2179,314,524 - 179,405,486 (+)NCBIHuRef
CHM1_12187,460,842 - 187,551,625 (+)NCBICHM1_1
Itgav
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39283,551,625 - 83,637,261 (+)NCBIGRCm39mm39
GRCm39 Ensembl283,554,741 - 83,637,260 (+)Ensembl
GRCm38283,722,303 - 83,806,917 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl283,724,397 - 83,806,916 (+)EnsemblGRCm38mm10GRCm38
MGSCv37283,564,554 - 83,647,073 (+)NCBIGRCm37mm9NCBIm37
MGSCv36283,525,354 - 83,604,646 (+)NCBImm8
Celera285,367,604 - 85,456,006 (+)NCBICelera
Cytogenetic Map2DNCBI
cM Map249.33NCBI
Itgav
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2368,838,524 - 68,926,653 (+)NCBI
Rnor_6.0 Ensembl371,114,100 - 71,202,411 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0371,113,269 - 71,205,958 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0377,643,270 - 77,731,358 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4366,953,403 - 67,029,774 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1366,848,789 - 66,926,146 (+)NCBI
Celera368,209,136 - 68,297,332 (+)NCBICelera
Cytogenetic Map3q24NCBI
Itgav
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540311,592,339 - 11,659,297 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540311,588,536 - 11,669,809 (-)NCBIChiLan1.0ChiLan1.0
ITGAV
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B191,680,655 - 191,773,028 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B191,680,655 - 191,773,028 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B73,880,962 - 73,972,486 (+)NCBIMhudiblu_PPA_v0panPan3
ITGAV
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl3628,804,013 - 28,887,430 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.13628,815,215 - 28,890,569 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Itgav
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493650610,750,116 - 10,839,018 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ITGAV
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1591,604,676 - 91,711,840 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11591,604,666 - 91,711,843 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215101,654,958 - 101,717,935 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ITGAV
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11072,125,710 - 72,216,757 (+)NCBI
ChlSab1.1 Ensembl1072,125,962 - 72,216,809 (+)Ensembl
Itgav
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248993,235,434 - 3,292,584 (-)NCBI

Position Markers
SHGC-83383  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372187,493,902 - 187,494,175UniSTSGRCh37
Build 362187,202,147 - 187,202,420RGDNCBI36
Celera2181,089,572 - 181,089,845RGD
Cytogenetic Map2q31-q32UniSTS
HuRef2179,353,767 - 179,354,040UniSTS
A008S43  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372187,497,632 - 187,497,824UniSTSGRCh37
Build 362187,205,877 - 187,206,069RGDNCBI36
Celera2181,093,302 - 181,093,494RGD
Cytogenetic Map2q31-q32UniSTS
HuRef2179,357,497 - 179,357,689UniSTS
GeneMap99-GB4 RH Map2618.69UniSTS
NCBI RH Map21477.9UniSTS
ITGAV_2290  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372187,545,029 - 187,545,764UniSTSGRCh37
Build 362187,253,274 - 187,254,009RGDNCBI36
Celera2181,140,658 - 181,141,393RGD
HuRef2179,404,886 - 179,405,621UniSTS
G10667  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372187,542,212 - 187,542,438UniSTSGRCh37
Build 362187,250,457 - 187,250,683RGDNCBI36
Celera2181,137,841 - 181,138,067RGD
Cytogenetic Map2q31-q32UniSTS
HuRef2179,402,070 - 179,402,296UniSTS
RH17666  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372187,543,861 - 187,543,981UniSTSGRCh37
Build 362187,252,106 - 187,252,226RGDNCBI36
Celera2181,139,490 - 181,139,610RGD
Cytogenetic Map2q31-q32UniSTS
HuRef2179,403,719 - 179,403,839UniSTS
GeneMap99-GB4 RH Map2593.65UniSTS
D2S2967  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372187,497,674 - 187,497,817UniSTSGRCh37
Build 362187,205,919 - 187,206,062RGDNCBI36
Celera2181,093,344 - 181,093,487RGD
Cytogenetic Map2q31-q32UniSTS
HuRef2179,357,539 - 179,357,682UniSTS
D2S2597  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372187,542,705 - 187,543,045UniSTSGRCh37
Build 362187,250,950 - 187,251,290RGDNCBI36
Celera2181,138,334 - 181,138,674RGD
Cytogenetic Map2q31-q32UniSTS
HuRef2179,402,563 - 179,402,903UniSTS
Whitehead-YAC Contig Map2 UniSTS
A006R29  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372187,545,390 - 187,545,599UniSTSGRCh37
Build 362187,253,635 - 187,253,844RGDNCBI36
Celera2181,141,019 - 181,141,228RGD
Cytogenetic Map2q31-q32UniSTS
HuRef2179,405,247 - 179,405,456UniSTS
GeneMap99-GB4 RH Map2591.94UniSTS
D2S1746  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372187,530,855 - 187,531,080UniSTSGRCh37
Build 362187,239,100 - 187,239,325RGDNCBI36
Celera2181,126,482 - 181,126,707RGD
Cytogenetic Map2q31-q32UniSTS
HuRef2179,390,689 - 179,390,914UniSTS
Whitehead-YAC Contig Map2 UniSTS
MARC_11551-11552:1002130198:2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372187,529,312 - 187,529,921UniSTSGRCh37
Build 362187,237,557 - 187,238,166RGDNCBI36
Celera2181,124,940 - 181,125,548RGD
HuRef2179,389,146 - 179,389,755UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2834
Count of miRNA genes:798
Interacting mature miRNAs:938
Transcripts:ENST00000261023, ENST00000374907, ENST00000430709, ENST00000433736, ENST00000460641, ENST00000474571, ENST00000496477, ENST00000496854
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 2
Medium 2328 2082 1435 354 725 200 4015 1739 3317 402 1334 1599 167 1200 2459 4
Low 111 660 291 270 955 265 342 457 417 17 124 14 8 1 4 329 2 2
Below cutoff 249 265

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001144999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC017101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC072686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ101180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ129340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB962576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN409399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA736912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF560727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU332844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX512445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M14648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  N83286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U06120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U07375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000261023   ⟹   ENSP00000261023
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2186,590,056 - 186,680,901 (+)Ensembl
RefSeq Acc Id: ENST00000374907   ⟹   ENSP00000364042
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2186,590,080 - 186,680,897 (+)Ensembl
RefSeq Acc Id: ENST00000430709   ⟹   ENSP00000389442
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2186,668,877 - 186,676,283 (+)Ensembl
RefSeq Acc Id: ENST00000433736   ⟹   ENSP00000404291
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2186,600,205 - 186,677,441 (+)Ensembl
RefSeq Acc Id: ENST00000460641
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2186,665,126 - 186,668,020 (+)Ensembl
RefSeq Acc Id: ENST00000474571
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2186,668,845 - 186,669,957 (+)Ensembl
RefSeq Acc Id: ENST00000496477
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2186,667,648 - 186,675,638 (+)Ensembl
RefSeq Acc Id: ENST00000496854
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2186,668,524 - 186,669,914 (+)Ensembl
RefSeq Acc Id: NM_001144999   ⟹   NP_001138471
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382186,600,205 - 186,680,901 (+)NCBI
GRCh372187,454,058 - 187,545,629 (+)NCBI
HuRef2179,314,524 - 179,405,486 (+)NCBI
CHM1_12187,470,986 - 187,551,625 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001145000   ⟹   NP_001138472
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382186,590,056 - 186,680,901 (+)NCBI
GRCh372187,454,058 - 187,545,629 (+)NCBI
HuRef2179,314,524 - 179,405,486 (+)NCBI
CHM1_12187,460,842 - 187,551,625 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002210   ⟹   NP_002201
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382186,590,056 - 186,680,901 (+)NCBI
GRCh372187,454,058 - 187,545,629 (+)NCBI
Build 362187,163,045 - 187,253,873 (+)NCBI Archive
HuRef2179,314,524 - 179,405,486 (+)NCBI
CHM1_12187,460,842 - 187,551,625 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002201   ⟸   NM_002210
- Peptide Label: isoform 1 preproprotein
- Sequence:
RefSeq Acc Id: NP_001138472   ⟸   NM_001145000
- Peptide Label: isoform 3 precursor
- Sequence:
RefSeq Acc Id: NP_001138471   ⟸   NM_001144999
- Peptide Label: isoform 2 precursor
- Sequence:
RefSeq Acc Id: ENSP00000364042   ⟸   ENST00000374907
RefSeq Acc Id: ENSP00000389442   ⟸   ENST00000430709
RefSeq Acc Id: ENSP00000261023   ⟸   ENST00000261023
RefSeq Acc Id: ENSP00000404291   ⟸   ENST00000433736
Protein Domains
Integrin_alpha2

Promoters
RGD ID:6862276
Promoter ID:EPDNEW_H4303
Type:initiation region
Name:ITGAV_2
Description:integrin subunit alpha V
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4304  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382186,589,759 - 186,589,819EPDNEW
RGD ID:6862278
Promoter ID:EPDNEW_H4304
Type:initiation region
Name:ITGAV_1
Description:integrin subunit alpha V
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4303  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382186,590,056 - 186,590,116EPDNEW
RGD ID:6797673
Promoter ID:HG_KWN:36286
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000255882,   UC010FRS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362187,162,246 - 187,163,092 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 copy number loss See cases [RCV000050980] Chr2:174898848..203941548 [GRCh38]
Chr2:175763576..204806271 [GRCh37]
Chr2:175471822..204514516 [NCBI36]
Chr2:2q31.1-33.2
pathogenic
GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1 copy number loss See cases [RCV000052558] Chr2:176304445..202039790 [GRCh38]
Chr2:177169173..202904513 [GRCh37]
Chr2:176877419..202612758 [NCBI36]
Chr2:2q31.1-33.1
pathogenic
GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1 copy number loss See cases [RCV000052559] Chr2:177874070..198525492 [GRCh38]
Chr2:178738797..199390216 [GRCh37]
Chr2:178447043..199098461 [NCBI36]
Chr2:2q31.2-33.1
pathogenic
NM_001144999.2(ITGAV):c.2104C>T (p.Gln702Ter) single nucleotide variant Malignant melanoma [RCV000060426] Chr2:186666779 [GRCh38]
Chr2:187531506 [GRCh37]
Chr2:187239751 [NCBI36]
Chr2:2q32.1
not provided
GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1 copy number loss See cases [RCV000135876] Chr2:186027472..201059372 [GRCh38]
Chr2:186892199..201924095 [GRCh37]
Chr2:186600444..201632340 [NCBI36]
Chr2:2q32.1-33.1
pathogenic
GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1 copy number loss See cases [RCV000136850] Chr2:171429233..189179568 [GRCh38]
Chr2:172285743..190044294 [GRCh37]
Chr2:171993989..189752539 [NCBI36]
Chr2:2q31.1-32.2
pathogenic
GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1 copy number loss See cases [RCV000136861] Chr2:174634502..189000964 [GRCh38]
Chr2:175499230..189865690 [GRCh37]
Chr2:175207476..189573935 [NCBI36]
Chr2:2q31.1-32.2
pathogenic
GRCh38/hg38 2q31.3-32.1(chr2:180942902-187372388)x1 copy number loss See cases [RCV000137116] Chr2:180942902..187372388 [GRCh38]
Chr2:181807629..188237115 [GRCh37]
Chr2:181515874..187945360 [NCBI36]
Chr2:2q31.3-32.1
pathogenic
GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1 copy number loss See cases [RCV000138253] Chr2:181758701..192015392 [GRCh38]
Chr2:182623428..192880118 [GRCh37]
Chr2:182331673..192588363 [NCBI36]
Chr2:2q31.3-32.3
pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2
pathogenic
GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1 copy number loss See cases [RCV000141735] Chr2:177827730..195125329 [GRCh38]
Chr2:178692457..195990053 [GRCh37]
Chr2:178400703..195698298 [NCBI36]
Chr2:2q31.2-32.3
pathogenic
GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1 copy number loss See cases [RCV000143484] Chr2:176086763..193201970 [GRCh38]
Chr2:176951491..194066696 [GRCh37]
Chr2:176659737..193774941 [NCBI36]
Chr2:2q31.1-32.3
pathogenic
GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1 copy number loss See cases [RCV000239432] Chr2:177315153..196375520 [GRCh37]
Chr2:2q31.1-32.3
pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q32.1(chr2:187370142-188535099)x4 copy number gain not provided [RCV000740779] Chr2:187370142..188535099 [GRCh37]
Chr2:2q32.1
uncertain significance
GRCh37/hg19 2q32.1(chr2:187440683-187625351)x3 copy number gain not provided [RCV000740780] Chr2:187440683..187625351 [GRCh37]
Chr2:2q32.1
benign
NM_002210.5(ITGAV):c.441G>A (p.Glu147=) single nucleotide variant not provided [RCV000970083] Chr2:186625505 [GRCh38]
Chr2:187490232 [GRCh37]
Chr2:2q32.1
benign
NM_002210.5(ITGAV):c.956+8T>A single nucleotide variant not provided [RCV000966833] Chr2:186640975 [GRCh38]
Chr2:187505702 [GRCh37]
Chr2:2q32.1
benign
NM_002210.5(ITGAV):c.2964G>A (p.Ala988=) single nucleotide variant not provided [RCV000966834] Chr2:186676848 [GRCh38]
Chr2:187541575 [GRCh37]
Chr2:2q32.1
benign
NM_002210.5(ITGAV):c.1719+10A>G single nucleotide variant not provided [RCV000920127] Chr2:186656411 [GRCh38]
Chr2:187521138 [GRCh37]
Chr2:2q32.1
likely benign
NM_002210.5(ITGAV):c.675C>T (p.Tyr225=) single nucleotide variant not provided [RCV000970084] Chr2:186636125 [GRCh38]
Chr2:187500852 [GRCh37]
Chr2:2q32.1
benign
GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1 copy number loss not provided [RCV001005359] Chr2:174690039..195521582 [GRCh37]
Chr2:2q31.1-32.3
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787402] Chr2:186356601..188906835 [GRCh37]
Chr2:2q32.1
pathogenic
GRCh37/hg19 2q32.1(chr2:186861444-188658263)x1 copy number loss not provided [RCV000845864] Chr2:186861444..188658263 [GRCh37]
Chr2:2q32.1
uncertain significance
GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1 copy number loss not provided [RCV000848216] Chr2:167329586..192756373 [GRCh37]
Chr2:2q24.3-32.3
pathogenic
GRCh37/hg19 2q32.1(chr2:187445266-187627894)x3 copy number gain not provided [RCV000849474] Chr2:187445266..187627894 [GRCh37]
Chr2:2q32.1
uncertain significance
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34
pathogenic
GRCh37/hg19 2q32.1(chr2:186234826-188972311)x3 copy number gain not provided [RCV000847709] Chr2:186234826..188972311 [GRCh37]
Chr2:2q32.1
uncertain significance
NM_002210.5(ITGAV):c.1710G>A (p.Ala570=) single nucleotide variant not provided [RCV000952500] Chr2:186656392 [GRCh38]
Chr2:187521119 [GRCh37]
Chr2:2q32.1
benign
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6150 AgrOrtholog
COSMIC ITGAV COSMIC
Ensembl Genes ENSG00000138448 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000261023 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000364042 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000389442 UniProtKB/TrEMBL
  ENSP00000404291 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000261023 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000374907 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000430709 UniProtKB/TrEMBL
  ENST00000433736 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.130.10.130 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000138448 GTEx
HGNC ID HGNC:6150 ENTREZGENE
Human Proteome Map ITGAV Human Proteome Map
InterPro FG-GAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Int_alpha_beta-p UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_alpha-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_alpha_C_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_alpha_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3685 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3685 ENTREZGENE
OMIM 193210 OMIM
Pfam FG-GAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_alpha2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37336 PharmGKB
PRINTS INTEGRINA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FG_GAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  INTEGRIN_ALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Int_alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF69179 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A5YM53_HUMAN UniProtKB/TrEMBL
  H7BZG1_HUMAN UniProtKB/TrEMBL
  ITAV_HUMAN UniProtKB/Swiss-Prot
  L7RXH0_HUMAN UniProtKB/TrEMBL
  P06756 ENTREZGENE
UniProt Secondary A0AV67 UniProtKB/Swiss-Prot
  B0LPF4 UniProtKB/Swiss-Prot
  B7Z883 UniProtKB/Swiss-Prot
  B7ZLX0 UniProtKB/Swiss-Prot
  D3DPG8 UniProtKB/Swiss-Prot
  E7EWZ6 UniProtKB/Swiss-Prot
  Q53SK4 UniProtKB/Swiss-Prot
  Q59EB7 UniProtKB/Swiss-Prot
  Q6LD15 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 ITGAV  integrin subunit alpha V  VTNR  vitronectin receptor  Data Merged 737654 PROVISIONAL
2015-12-22 ITGAV  integrin subunit alpha V    integrin alpha V  Symbol and/or name change 5135510 APPROVED
2015-11-24 ITGAV  integrin alpha V    integrin, alpha V  Symbol and/or name change 5135510 APPROVED
2012-04-24 ITGAV  integrin, alpha V  ITGAV  integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)  Symbol and/or name change 5135510 APPROVED
2011-08-16 ITGAV  integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)  ITGAV  integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)  Symbol and/or name change 5135510 APPROVED