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
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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  
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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