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Aliases for ITGAV Gene

Aliases for ITGAV Gene

  • Integrin Subunit Alpha V 2 3 5
  • Integrin, Alpha V (Vitronectin Receptor, Alpha Polypeptide, Antigen CD51) 2 3
  • Antigen Identified By Monoclonal Antibody L230 2 3
  • Vitronectin Receptor Subunit Alpha 3 4
  • MSK8 3 4
  • VNRA 3 4
  • Vitronectin Receptor 2
  • Integrin AlphaVbeta3 3
  • Integrin, Alpha V 2
  • Integrin Alpha V 3
  • CD51 Antigen 4
  • CD51 3
  • VTNR 3

External Ids for ITGAV Gene

Previous HGNC Symbols for ITGAV Gene

  • VNRA
  • MSK8
  • VTNR

Previous GeneCards Identifiers for ITGAV Gene

  • GC02P185662
  • GC02P186138
  • GC02P187418
  • GC02P187657
  • GC02P187280
  • GC02P187163
  • GC02P179314

Summaries for ITGAV Gene

Entrez Gene Summary for ITGAV Gene

  • The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha subunit and a beta subunit that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha V subunit. This subunit associates with beta 1, beta 3, beta 5, beta 6 and beta 8 subunits. The heterodimer consisting of alpha V and beta 3 subunits is also known as the vitronectin receptor. This integrin may regulate angiogenesis and cancer progression. Alternative splicing results in multiple transcript variants. Note that the integrin alpha 5 and integrin alpha V subunits are encoded by distinct genes. [provided by RefSeq, Oct 2015]

GeneCards Summary for ITGAV Gene

ITGAV (Integrin Subunit Alpha V) is a Protein Coding gene. Diseases associated with ITGAV include west nile virus and cerebral hypoxia. Among its related pathways are Platelet activation, signaling and aggregation and Sertoli-Sertoli Cell Junction Dynamics. GO annotations related to this gene include protease binding and voltage-gated calcium channel activity. An important paralog of this gene is ITGA8.

UniProtKB/Swiss-Prot for ITGAV Gene

  • The alpha-V (ITGAV) integrins are receptors for vitronectin, cytotactin, fibronectin, fibrinogen, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin and vWF. They recognize the sequence R-G-D in a wide array of ligands.

  • (Microbial infection) Integrin ITGAV:ITGB5 acts as a receptor for adenovirus type C (PubMed:20615244). Integrin ITGAV:ITGB5 and ITGAV:ITGB3 act as receptors for coxsackievirus A9 and B1 (PubMed:9426447, PubMed:15194773, PubMed:7519807). Integrin ITGAV:ITGB3 acts as a receptor for herpes virus 8/HHV-8 (PubMed:18045938). Integrin ITGAV:ITGB6 acts as a receptor for herpes simplex 1/HHV-1 (PubMed:24367260). Integrin ITGAV:ITGB3 acts as a receptor for Human parechovirus 1 (PubMed:11160695). Integrin ITGAV:ITGB3 acts as a receptor for West nile virus (PubMed:23658209). In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposis sarcoma lesions (PubMed:10397733).

Gene Wiki entry for ITGAV Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITGAV Gene

Genomics for ITGAV Gene

Regulatory Elements for ITGAV Gene

Promoters for ITGAV Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ITGAV on UCSC Golden Path with GeneCards custom track

Genomic Location for ITGAV Gene

Chromosome:
2
Start:
186,590,063 bp from pter
End:
186,680,902 bp from pter
Size:
90,840 bases
Orientation:
Plus strand

Genomic View for ITGAV Gene

Genes around ITGAV on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITGAV Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITGAV Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITGAV Gene

Proteins for ITGAV Gene

  • Protein details for ITGAV Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P06756-ITAV_HUMAN
    Recommended name:
    Integrin alpha-V
    Protein Accession:
    P06756
    Secondary Accessions:
    • A0AV67
    • B0LPF4
    • B7Z883
    • B7ZLX0
    • D3DPG8
    • E7EWZ6
    • Q53SK4
    • Q59EB7
    • Q6LD15

    Protein attributes for ITGAV Gene

    Size:
    1048 amino acids
    Molecular mass:
    116038 Da
    Quaternary structure:
    • Heterodimer of an alpha and a beta subunit. The alpha subunit is composed of a heavy and a light chain linked by a disulfide bond. Alpha-V (ITGAV) associates with either beta-1 (ITGB1), beta-3 (ITGB3), beta-5 (ITGB5), beta-6 (ITGB6) or beta-8 (ITGB8). Interacts with CIB1 (PubMed:24011356). Interacts with RAB25 (PubMed:17925226). Integrins ITGAV:ITGB3 and ITGAV:ITGB5 interact with FBLN5 (via N-terminus) (By similarity). ITGAV:ITGB3 and ITGAV:ITGB5 interact with NOV (PubMed:12695522). ITGAV:ITGB3 interacts with ADGRA2 (PubMed:16982628).
    • (Microbial infection) Integrin ITGAV:ITGB3 interacts with herpes virus 8/HHV-8 envelope glycoprotein B.
    • (Microbial infection) Integrin ITGAV:ITGB3 and ITGAV:ITGB6 bind to coxsackievirus A9 and coxsackievirus B1 capsid proteins (PubMed:9426447, PubMed:15194773, PubMed:7519807).
    • (Microbial infection) Integrin ITGAV:ITGB6 interacts with herpes simplex 1/HHV-1 envelope glycoprotein H.
    • (Microbial infection) Integrin ITGAV:ITGB5 interacts with adenovirus type C penton protein.
    • (Microbial infection) Integrin ITGAV:ITGB3 interacts with Human parechovirus 1 capsid proteins.
    • (Microbial infection) Integrin ITGAV:ITGB3 interacts with West nile virus envelope protein E.
    • (Microbial infection) Interacts with HIV-1 Tat.
    SequenceCaution:
    • Sequence=BAD93131.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ITGAV Gene

    Alternative splice isoforms for ITGAV Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ITGAV Gene

Proteomics data for ITGAV Gene at MOPED

Post-translational modifications for ITGAV Gene

  • Ubiquitination at Lys 233 and Lys 360
  • Glycosylation at Asn 74, Asn 290, Asn 296, Asn 488, Asn 554, Asn 615, Asn 704, Asn 835, Asn 851, Asn 874, Asn 945, Asn 973, and Asn 980
  • Modification sites at PhosphoSitePlus

Other Protein References for ITGAV Gene

Antibody Products

  • R&D Systems Antibodies for ITGAV (Integrin alpha V beta 3)
  • R&D Systems Antibodies for ITGAV (Integrin alpha V beta 5)
  • R&D Systems Antibodies for ITGAV (Integrin alpha V/CD51)
  • Cell Signaling Technology (CST) Antibodies for ITGAV (ITGAV)

Protein Products

No data available for DME Specific Peptides for ITGAV Gene

Domains & Families for ITGAV Gene

Gene Families for ITGAV Gene

Graphical View of Domain Structure for InterPro Entry

P06756

UniProtKB/Swiss-Prot:

ITAV_HUMAN :
  • Belongs to the integrin alpha chain family.
  • Contains 7 FG-GAP repeats.
Family:
  • Belongs to the integrin alpha chain family.
Similarity:
  • Contains 7 FG-GAP repeats.
genes like me logo Genes that share domains with ITGAV: view

Function for ITGAV Gene

Molecular function for ITGAV Gene

GENATLAS Biochemistry:
integrin,alpha V,cell surface adhesion receptor mediating cell-adhesion to extra cellular matrix or to other cells,through hetero dimerization and connecting to the cytoskeleton and various signaling molecules within cells,dimerizing with ITGB3 in vitronectin,fibrinogen,von Willebrand factor,thrombospondin,fibronectin,osteopontin,collagen receptors;with ITGB1 or ITGB5 in vitronectin receptor;with ITGB6 in fibronectin receptor
UniProtKB/Swiss-Prot Function:
The alpha-V (ITGAV) integrins are receptors for vitronectin, cytotactin, fibronectin, fibrinogen, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin and vWF. They recognize the sequence R-G-D in a wide array of ligands.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Integrin ITGAV:ITGB5 acts as a receptor for adenovirus type C (PubMed:20615244). Integrin ITGAV:ITGB5 and ITGAV:ITGB3 act as receptors for coxsackievirus A9 and B1 (PubMed:9426447, PubMed:15194773, PubMed:7519807). Integrin ITGAV:ITGB3 acts as a receptor for herpes virus 8/HHV-8 (PubMed:18045938). Integrin ITGAV:ITGB6 acts as a receptor for herpes simplex 1/HHV-1 (PubMed:24367260). Integrin ITGAV:ITGB3 acts as a receptor for Human parechovirus 1 (PubMed:11160695). Integrin ITGAV:ITGB3 acts as a receptor for West nile virus (PubMed:23658209). In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposis sarcoma lesions (PubMed:10397733).

Gene Ontology (GO) - Molecular Function for ITGAV Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005080 contributes_to protein kinase C binding ISS --
genes like me logo Genes that share ontologies with ITGAV: view

Phenotypes for ITGAV Gene

GenomeRNAi human phenotypes for ITGAV:
MGI mutant phenotypes for ITGAV:
inferred from 4 alleles
genes like me logo Genes that share phenotypes with ITGAV: view

Animal Models for ITGAV Gene

MGI Knock Outs for ITGAV:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ITGAV
  • R&D Systems cDNA Clones for ITGAV (Integrin alpha V/CD51)

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ITGAV Gene

Localization for ITGAV Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITGAV Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ITGAV Gene COMPARTMENTS Subcellular localization image for ITGAV gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytoskeleton 2
cytosol 2
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ITGAV Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031527 filopodium membrane IDA 25063885
GO:0034683 integrin alphav-beta3 complex IDA 22505472
GO:0045335 phagocytic vesicle TAS --
genes like me logo Genes that share ontologies with ITGAV: view

Pathways & Interactions for ITGAV Gene

genes like me logo Genes that share pathways with ITGAV: view

SIGNOR curated interactions for ITGAV Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ITGAV Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEP 11866539
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS --
GO:0007155 cell adhesion IDA 10218736
GO:0007160 cell-matrix adhesion NAS 11877390
GO:0007411 axon guidance TAS --
genes like me logo Genes that share ontologies with ITGAV: view

Drugs & Compounds for ITGAV Gene

(8) Drugs for ITGAV Gene - From: DGIdb, DrugBank, ApexBio, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Antithymocyte globulin Approved Pharma binder, Target 0
Cilengitide Pharma inhibitor Integrin inhibitor for αvβ3 and αvβ5, Integrins 0
CNTO-95 Pharma 0
GLPG0187 Pharma 0
L-000845704 Pharma Antagonist Osteoclast function modifiers (important in bone metastasis) 0

(6) Additional Compounds for ITGAV Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ITGAV: view

Drug Products

Transcripts for ITGAV Gene

Unigene Clusters for ITGAV Gene

Integrin, alpha V:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ITGAV Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
SP1:
SP2: - -

ExUns: 26 ^ 27 ^ 28 ^ 29 ^ 30
SP1:
SP2:

Relevant External Links for ITGAV Gene

GeneLoc Exon Structure for
ITGAV
ECgene alternative splicing isoforms for
ITGAV

Expression for ITGAV Gene

mRNA expression in normal human tissues for ITGAV Gene

Protein differential expression in normal tissues from HIPED for ITGAV Gene

This gene is overexpressed in Nasal epithelium (12.3), Amniocyte (8.9), and Bone marrow stromal cell (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ITGAV Gene



SOURCE GeneReport for Unigene cluster for ITGAV Gene Hs.436873

genes like me logo Genes that share expression patterns with ITGAV: view

Protein tissue co-expression partners for ITGAV Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ITGAV Gene

Orthologs for ITGAV Gene

This gene was present in the common ancestor of animals.

Orthologs for ITGAV Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ITGAV 36
  • 100 (a)
OneToOne
ITGAV 35
  • 99.65 (n)
  • 99.9 (a)
cow
(Bos Taurus)
Mammalia ITGAV 35
  • 91.76 (n)
  • 95.39 (a)
ITGAV 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ITGAV 36
  • 93 (a)
OneToOne
ITGAV 35
  • 89.62 (n)
  • 95.13 (a)
mouse
(Mus musculus)
Mammalia Itgav 36
  • 93 (a)
OneToOne
Itgav 16
Itgav 35
  • 87.87 (n)
  • 93.69 (a)
oppossum
(Monodelphis domestica)
Mammalia ITGAV 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 85 (a)
OneToMany
-- 36
  • 86 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Itgav 35
  • 85.23 (n)
  • 90.21 (a)
chicken
(Gallus gallus)
Aves ITGAV 35
  • 78.43 (n)
  • 83.48 (a)
ITGAV 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ITGAV 36
  • 79 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC397997 35
tropical clawed frog
(Silurana tropicalis)
Amphibia itgav 35
  • 70.93 (n)
  • 72.8 (a)
zebrafish
(Danio rerio)
Actinopterygii itgav 36
  • 60 (a)
OneToOne
itgav 35
  • 62.62 (n)
  • 61.26 (a)
fruit fly
(Drosophila melanogaster)
Insecta alphaPS4 37
  • 23 (a)
alphaPS5 37
  • 22 (a)
if 37
  • 31 (a)
scb 37
  • 24 (a)
if 36
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F54F2.1 37
  • 30 (a)
ina-1 37
  • 24 (a)
pat-2 36
  • 26 (a)
OneToMany
Species with no ortholog for ITGAV:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ITGAV Gene

ENSEMBL:
Gene Tree for ITGAV (if available)
TreeFam:
Gene Tree for ITGAV (if available)

Paralogs for ITGAV Gene

(4) SIMAP similar genes for ITGAV Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with ITGAV: view

Variants for ITGAV Gene

Sequence variations from dbSNP and Humsavar for ITGAV Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs3738918 - 186,646,739(+) TTTAT(A/G)TCTTC reference, missense
rs2230616 - 186,667,690(+) ATCAT(A/G)TCTTT reference, missense
rs2230615 - 186,656,324(+) GCAGG(G/T)CCCCA reference, missense
rs13482 -- 186,680,526(-) TAGGC(C/T)TACTA utr-variant-3-prime
rs1054194 -- 186,679,205(+) CCTAG(C/T)AACAG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ITGAV Gene

Variant ID Type Subtype PubMed ID
dgv1279e1 CNV Complex 17122850
nsv875552 CNV Loss 21882294
dgv1280e1 CNV Complex 17122850
nsv818105 CNV Gain 17921354
esv1634124 CNV Insertion 17803354
esv2721241 CNV Deletion 23290073

Variation tolerance for ITGAV Gene

Residual Variation Intolerance Score: 12.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.32; 63.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ITGAV Gene

HapMap Linkage Disequilibrium report
ITGAV
Human Gene Mutation Database (HGMD)
ITGAV

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITGAV Gene

Disorders for ITGAV Gene

MalaCards: The human disease database

(9) MalaCards diseases for ITGAV Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
west nile virus
  • west nile virus, susceptibility to
cerebral hypoxia
  • brain hypoxia
mouth disease
  • mouth diseases
bone giant cell tumor
  • giant cell myeloma
colon carcinoma in situ
  • carcinoma in situ of colon
- elite association - COSMIC cancer census association via MalaCards
Search ITGAV in MalaCards View complete list of genes associated with diseases

Relevant External Links for ITGAV

Genetic Association Database (GAD)
ITGAV
Human Genome Epidemiology (HuGE) Navigator
ITGAV
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ITGAV
genes like me logo Genes that share disorders with ITGAV: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ITGAV Gene

Publications for ITGAV Gene

  1. Cloning and characterisation of ITGAV, the genomic sequence for human cell adhesion protein (vitronectin) receptor alpha subunit, CD51. (PMID: 10965141) Sims M.A. … Campbell D.A. (Cytogenet. Cell Genet. 2000) 3 4 23 67
  2. Role of the alpha v-integrin subunit in cell proliferation, apoptosis and tumor metastasis of laryngeal and hypopharyngeal squamous cell carcinomas: a clinical and in vitro investigation. (PMID: 18427826) Lu J.G. … Liu M. (Eur Arch Otorhinolaryngol 2009) 3 23
  3. Mannose 6-phosphate/insulin-like growth factor 2 receptor limits cell invasion by controlling alphaVbeta3 integrin expression and proteolytic processing of urokinase-type plasminogen activator receptor. (PMID: 19037107) Schiller H.B. … Leksa V. (Mol. Biol. Cell 2009) 3 23
  4. Quantitative gene-expression of the tumor angiogenesis markers vascular endothelial growth factor, integrin alphaV and integrin beta3 in human neuroendocrine tumors. (PMID: 19212638) Oxboel J. … Kjaer A. (Oncol. Rep. 2009) 3 23
  5. [Expression of alpha-v integrin subunit in the laryngeal and hypopharyngeal squamous cell carcinomas and its relationship with tumor angiogenesis]. (PMID: 18357713) Lu J.G. … Jin D.J. (Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2008) 3 23

Products for ITGAV Gene

Sources for ITGAV Gene

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