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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 Pharyngoconjunctival Fever and West Nile Virus. Among its related pathways are Development VEGF signaling via VEGFR2 - generic cascades and GPCR Pathway. 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. ITGAV:ITGB3 binds to fractalkine (CX3CL1) and may act as its coreceptor in CX3CR1-dependent fractalkine signaling (PubMed:23125415). ITGAV:ITGB3 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778). ITGAV:ITGB3 binds to FGF1 and this binding is essential for FGF1 signaling (PubMed:18441324). ITGAV:ITGB3 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:19578119). ITGAV:ITGB3 binds to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:18635536, PubMed:25398877). ITGAV:ITGB3 and ITGAV:ITGB6 act as a receptor for fibrillin-1 (FBN1) and mediate R-G-D-dependent cell adhesion to FBN1 (PubMed:12807887, PubMed:17158881).

  • (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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITGAV Gene

Genomics for ITGAV Gene

Regulatory Elements for ITGAV Gene

Enhancers for ITGAV Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G186482 1.7 Ensembl ENCODE dbSUPER 24.3 -104.9 -104888 5.6 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 ITGAV ENSG00000259915 FSIP2-AS1 LOC101927196 ZC3H15 LOC105373785
GH02G186532 0.9 ENCODE 24.1 -56.8 -56751 1.4 ELF3 HNRNPUL1 FOXA2 CBX3 MLX ZSCAN9 RARA TCF12 GATA2 FOS ITGAV ENSG00000259915 DPRXP1
GH02G186542 1.5 FANTOM5 Ensembl ENCODE 13.1 -44.9 -44889 5.1 ELF3 PKNOX1 FOXA2 ZNF133 RARA GATA4 GATA2 SCRT2 FOS CREM ITGAV ENSG00000259915 FAM171B LOC101927196 DPRXP1
GH02G186574 1.5 FANTOM5 Ensembl ENCODE 11.1 -14.3 -14295 2.5 ELF3 PKNOX1 CBX3 TBL1XR1 INSM2 SIN3A FEZF1 RAD21 ZEB1 RARA ITGAV ENSG00000227227 FAM171B ENSG00000259915 DPRXP1
GH02G186588 1.1 ENCODE 12.9 +0.6 591 4.0 HDGF HNRNPUL1 PKNOX1 FOXA2 CREB3L1 ARNT AGO1 ARID4B SIN3A FEZF1 ITGAV ENSG00000259915 LOC101927196 FAM171B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ITGAV on UCSC Golden Path with GeneCards custom track

Promoters for ITGAV Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000127457 637 2601 HDGF HNRNPUL1 PKNOX1 FOXA2 CREB3L1 ARNT AGO1 ARID4B SIN3A FEZF1

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). ITGAV:ITGB3 is found in a ternary complex with CX3CR1 and CX3CL1 (PubMed:23125415). ITGAV:ITGB3 is found in a ternary complex with NRG1 and ERBB3 (PubMed:20682778). ITGAV:ITGB3 is found in a ternary complex with FGF1 and FGFR1 (PubMed:18441324). ITGAV:ITGB3 is found in a ternary complex with IGF1 and IGF1R (PubMed:19578119). ITGAV:ITGB3 and ITGAV:ITGB6 interact with FBN1 (PubMed:12807887, PubMed:17158881).
    • (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

Post-translational modifications for ITGAV Gene

  • Ubiquitination at isoforms=2, 3233 and isoforms=2, 3360
  • Glycosylation at isoforms=2, 374, isoforms=2, 3290, posLast=296296, isoforms=2, 3488, posLast=554554, isoforms=2, 3615, posLast=704704, isoforms=2, 3835, isoforms=2, 3851, isoforms=2, 3874, isoforms=2, 3945, posLast=973973, and posLast=980980
  • 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)
  • Cloud-Clone Corp. Antibodies for 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.
Family:
  • Belongs to the integrin alpha chain family.
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. ITGAV:ITGB3 binds to fractalkine (CX3CL1) and may act as its coreceptor in CX3CR1-dependent fractalkine signaling (PubMed:23125415). ITGAV:ITGB3 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778). ITGAV:ITGB3 binds to FGF1 and this binding is essential for FGF1 signaling (PubMed:18441324). ITGAV:ITGB3 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:19578119). ITGAV:ITGB3 binds to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:18635536, PubMed:25398877). ITGAV:ITGB3 and ITGAV:ITGB6 act as a receptor for fibrillin-1 (FBN1) and mediate R-G-D-dependent cell adhesion to FBN1 (PubMed:12807887, PubMed:17158881).
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:0001618 virus receptor activity IEA --
GO:0001846 contributes_to opsonin binding ISS --
GO:0001968 fibronectin binding IDA 24658351
GO:0002020 protease binding IDA 22505472
GO:0005080 contributes_to protein kinase C binding ISS --
genes like me logo Genes that share ontologies with ITGAV: view

Phenotypes for ITGAV Gene

MGI mutant phenotypes for ITGAV:
inferred from 4 alleles
GenomeRNAi human phenotypes for ITGAV:
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)

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. Cell junction, focal adhesion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ITGAV gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
cytoskeleton 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ITGAV Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane NAS,TAS 11877390
GO:0005925 focal adhesion IDA 17158881
GO:0008305 integrin complex IDA,NAS 11877390
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

Pathways by source for ITGAV Gene

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:0001568 blood vessel development IEA --
GO:0001570 vasculogenesis IEA --
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS --
GO:0006874 cellular calcium ion homeostasis IEA --
genes like me logo Genes that share ontologies with ITGAV: view

Drugs & Compounds for ITGAV Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Anti-thymocyte Globulin (Rabbit) Approved Pharma Target 0
Cilengitide Pharma inhibitor Integrin inhibitor for αvβ3 and αvβ5, Integrins, Potent and selective inhibitor of integrins alphavbeta3 and alphavbeta5 0
CWHM-12 Pharma 0
Echistatin, α1 isoform Pharma 0
GR 144053 trihydrochloride Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(12) ApexBio Compounds for ITGAV Gene

Compound Action Cas Number
Cilengitide Integrin inhibitor for αvβ3 and αvβ5 188968-51-6
CWHM-12 1564286-55-0
Echistatin, α1 isoform 154303-05-6
GR 144053 trihydrochloride 1215333-48-4
LDV FITC 1207610-07-8
Obtustatin
P11 848644-86-0
RGD (Arg-Gly-Asp) Peptides Inhibits integrin binding to RGD motifs 99896-85-2
RGDS peptide 91037-65-9
SB273005 αvβ3 antagonist 205678-31-5
TC-I 15 916734-43-5
TCS 2314 317353-73-4
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:

Inhibitory RNA Products

Clone Products

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

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ITGAV Gene



Protein tissue co-expression partners for ITGAV Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ITGAV Gene:

ITGAV

SOURCE GeneReport for Unigene cluster for ITGAV Gene:

Hs.436873

Evidence on tissue expression from TISSUES for ITGAV Gene

  • Liver(4.4)
  • Nervous system(3.8)
  • Heart(3)
  • Blood(2.7)
  • Bone(2.5)
  • Kidney(2.5)
  • Eye(2.4)
  • Muscle(2.4)
  • Lung(2.3)
  • Intestine(2.2)
  • Skin(2.2)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with ITGAV: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 35
  • 99.65 (n)
cow
(Bos Taurus)
Mammalia ITGAV 34 35
  • 91.76 (n)
dog
(Canis familiaris)
Mammalia ITGAV 34 35
  • 89.62 (n)
oppossum
(Monodelphis domestica)
Mammalia ITGAV 35
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Itgav 34 16 35
  • 87.87 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 86 (a)
OneToMany
-- 35
  • 85 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Itgav 34
  • 85.23 (n)
chicken
(Gallus gallus)
Aves ITGAV 34 35
  • 78.43 (n)
lizard
(Anolis carolinensis)
Reptilia ITGAV 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itgav 34
  • 70.93 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC397997 34
zebrafish
(Danio rerio)
Actinopterygii itgav 34 35
  • 62.62 (n)
fruit fly
(Drosophila melanogaster)
Insecta if 36 35
  • 31 (a)
scb 36
  • 24 (a)
alphaPS4 36
  • 23 (a)
alphaPS5 36
  • 22 (a)
worm
(Caenorhabditis elegans)
Secernentea F54F2.1 36
  • 30 (a)
pat-2 35
  • 26 (a)
OneToMany
ina-1 36
  • 24 (a)
Species where no ortholog for ITGAV was found in the sources mined by GeneCards:
  • 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
rs1000004330 -- 186,620,054(+) CTCTC(-/TG)TAGTT intron-variant
rs1000007969 -- 186,673,732(+) GTGTG(A/G)TCTCG intron-variant
rs1000029962 -- 186,678,439(+) ATAGC(A/T)TGATG utr-variant-3-prime
rs1000072850 -- 186,671,291(+) CAACA(A/T)CAACA intron-variant
rs1000092883 -- 186,598,136(+) TTGAC(A/C)CTCAA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv2112n106 CNV deletion 24896259
esv1634124 CNV insertion 17803354
esv2721241 CNV deletion 23290073
esv2759107 CNV gain 17122850
esv3593672 CNV gain 21293372
esv3593673 CNV gain 21293372
esv3593674 CNV loss 21293372
nsv1076831 CNV insertion 25765185
nsv1110748 CNV insertion 24896259
nsv1138874 CNV deletion 24896259
nsv1148709 CNV insertion 26484159
nsv818105 CNV gain 17921354

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

Human Gene Mutation Database (HGMD)
ITGAV
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITGAV

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

Disorders for ITGAV Gene

MalaCards: The human disease database

(11) MalaCards diseases for ITGAV Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pharyngoconjunctival fever
  • adenoviral pharyngoconjunctivitis
west nile virus
  • west nile virus, susceptibility to
cerebral hypoxia
  • brain hypoxia
priapism
  • mentulagra
insulin-like growth factor i
  • insulin-like growth factor i deficiency
- 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. alphaVbeta6 is a novel receptor for human fibrillin-1. Comparative studies of molecular determinants underlying integrin-rgd affinity and specificity. (PMID: 17158881) Jovanovic J. … Handford P.A. (J. Biol. Chem. 2007) 3 4 22 64
  2. The ITGAV rs3738919-C allele is associated with rheumatoid arthritis in the European Caucasian population: a family-based study. (PMID: 17615072) Jacq L. … CornAclis F. (Arthritis Res. Ther. 2007) 3 22 46 64
  3. 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 22 64
  4. Proinflammatory secreted phospholipase A2 type IIA (sPLA-IIA) induces integrin activation through direct binding to a newly identified binding site (site 2) in integrins I+vI^3, I+4I^1, and I+5I^1. (PMID: 25398877) Fujita M. … Takada Y. (J. Biol. Chem. 2015) 3 4 64
  5. Identification of novel integrin binding partners for calcium and integrin binding protein 1 (CIB1): structural and thermodynamic basis of CIB1 promiscuity. (PMID: 24011356) Freeman T.C. Jr. … Parise L.V. (Biochemistry 2013) 3 4 64

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