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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
  • Vitronectin Receptor 2 4
  • MSK8 3 4
  • VNRA 3 4
  • VTNR 3 4
  • Integrin AlphaVbeta3 3
  • Integrin, Alpha V 2
  • Integrin Alpha-V 3
  • CD51 Antigen 4
  • CD51 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 Pharyngoconjunctival Fever. Among its related pathways are ERK Signaling and Focal Adhesion. Gene Ontology (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 FGF2 and this binding is essential for FGF2 signaling (PubMed:28302677). ITGAV:ITGB3 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:19578119). ITGAV:ITGB3 binds to IGF2 and this binding is essential for IGF2 signaling (PubMed:28873464). ITGAV:ITGB3 binds to IL1B and this binding is essential for IL1B signaling (PubMed:29030430). 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.

  • (Microbial infection) Integrin ITGAV:ITGB5 and ITGAV:ITGB3 act as receptors for Coxsackievirus A9 and B1.

  • (Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Herpes virus 8/HHV-8.

  • (Microbial infection) Integrin ITGAV:ITGB6 acts as a receptor for herpes simplex 1/HHV-1.

  • (Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Human parechovirus 1.

  • (Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for West nile virus.

  • (Microbial infection) In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposis sarcoma lesions.

Gene Wiki entry for ITGAV Gene

Additional gene information 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

GeneHancer (GH) Regulatory Elements for ITGAV Gene

Promoters and enhancers for ITGAV Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J186588 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 662.9 +0.6 591 4 HDGF PKNOX1 SMAD1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 ITGAV RPL21P32 ENSG00000259915 LOC101927196 FAM171B
GH02J186482 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 24.3 -104.8 -104781 5.8 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZC3H15 ITGAV ENSG00000259915 FSIP2-AS1 LOC101927196 LOC105373785
GH02J186532 Enhancer 0.8 ENCODE 24.1 -56.8 -56751 1.4 ELF3 FOXA2 MLX ZSCAN9 RARA TCF12 THAP11 MIXL1 PPARG KAT8 ITGAV ENSG00000259915 DPRXP1
GH02J186542 Enhancer 1.3 FANTOM5 Ensembl ENCODE 13.1 -44.9 -44888 5.1 ELF3 PKNOX1 FOXA2 ZNF133 RARA FOS CREM EGR2 ZNF202 RXRA ITGAV RPL21P32 ENSG00000259915 FAM171B LOC101927196 DPRXP1
GH02J186574 Enhancer 1.4 FANTOM5 Ensembl ENCODE 11.1 -14.3 -14294 2.5 PKNOX1 FEZF1 ETS1 ZNF766 ELK1 FOS PPARG KAT8 MAFF SMARCA4 ITGAV ENSG00000227227 FAM171B ENSG00000259915 DPRXP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ITGAV on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ITGAV gene promoter:
  • IRF-7A
  • FOXO1
  • Ik-1
  • FOXF2
  • FOXO1a
  • Cart-1

Genomic Locations for ITGAV Gene

Genomic Locations for ITGAV Gene
chr2:186,590,063-186,680,902
(GRCh38/hg38)
Size:
90,840 bases
Orientation:
Plus strand
chr2:187,454,790-187,545,628
(GRCh37/hg19)
Size:
90,839 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 interacts with FGF2; it is likely that FGF2 can simultaneously bind ITGAV:ITGB3 and FGF receptors (PubMed:28302677). ITGAV:ITGB3 interacts with IL1B (PubMed:29030430). 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 interacts with IGF2 (PubMed:28873464). ITGAV:ITGB3 and ITGAV:ITGB6 interact with FBN1 (PubMed:12807887, PubMed:17158881). ITGAV:ITGB3 interacts with CD9, CD81 and CD151 (via second extracellular domain) (PubMed:27993971).
    • (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

  • Glycosylation at isoforms=2, 3980, Asn973, isoforms=2, 3945, isoforms=2, 3874, Asn851, isoforms=2, 3835, Asn704, isoforms=2, 3615, Asn554, Asn488, Asn296, isoforms=2, 3290, and Asn74
  • Ubiquitination at Lys360 and isoforms=2, 3233
  • 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)

Protein Products

No data available for DME Specific Peptides for ITGAV Gene

Domains & Families for ITGAV Gene

Gene Families for ITGAV Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

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

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 FGF2 and this binding is essential for FGF2 signaling (PubMed:28302677). ITGAV:ITGB3 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:19578119). ITGAV:ITGB3 binds to IGF2 and this binding is essential for IGF2 signaling (PubMed:28873464). ITGAV:ITGB3 binds to IL1B and this binding is essential for IL1B signaling (PubMed:29030430). 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.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Integrin ITGAV:ITGB5 and ITGAV:ITGB3 act as receptors for Coxsackievirus A9 and B1.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Herpes virus 8/HHV-8.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Integrin ITGAV:ITGB6 acts as a receptor for herpes simplex 1/HHV-1.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Human parechovirus 1.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for West nile virus.
UniProtKB/Swiss-Prot Function:
(Microbial infection) In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposis sarcoma lesions.
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

Phenotypes From GWAS Catalog for ITGAV Gene

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:

Clone Products

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

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Focal adhesion sites (3)
  • Cytosol (1)
See all subcellular structures

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,IDA --
GO:0005887 integral component of plasma membrane TAS,NAS 11877390
GO:0005925 focal adhesion IDA 17158881
GO:0008305 integrin complex 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, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Antithymocyte immunoglobulin (rabbit) Approved Pharma Target 0
Cilengitide Investigational Pharma inhibitor Integrin inhibitor for αvβ3 and αvβ5, Integrins 0
Volociximab Investigational Pharma Antibody Integrins 0
CWHM-12 Pharma 0
Echistatin, α1 isoform Pharma 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

Transcripts for ITGAV Gene

mRNA/cDNA for ITGAV Gene

Unigene Clusters for ITGAV Gene

Integrin, alpha V:
Representative Sequences:

Clone Products

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

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, 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

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 33
  • 99.65 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ITGAV 34 33
  • 91.76 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ITGAV 34 33
  • 89.62 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ITGAV 34
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Itgav 16 34 33
  • 87.87 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 86 (a)
OneToMany
-- 34
  • 85 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Itgav 33
  • 85.23 (n)
chicken
(Gallus gallus)
Aves ITGAV 34 33
  • 78.43 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ITGAV 34
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itgav 33
  • 70.93 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC397997 33
zebrafish
(Danio rerio)
Actinopterygii itgav 34 33
  • 62.62 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta scb 35
  • 24 (a)
if 34 35
  • 23 (a)
OneToMany
alphaPS4 35
  • 23 (a)
alphaPS5 35
  • 22 (a)
worm
(Caenorhabditis elegans)
Secernentea F54F2.1 35
  • 30 (a)
pat-2 34
  • 26 (a)
OneToMany
ina-1 35
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ITGAV: view image

Paralogs for ITGAV Gene

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

  • ITAV_HUMAN
  • A5YM53_HUMAN
  • B7ZLX0_HUMAN
  • H7BZG1_HUMAN
  • L7RXH0_HUMAN
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 Variation AA Info Type
rs1000004330 -- 186,620,055(+) T/TGT intron_variant
rs1000007969 -- 186,673,732(+) A/G intron_variant
rs1000029962 -- 186,678,439(+) A/T 3_prime_UTR_variant
rs1000072850 -- 186,671,291(+) T/A intron_variant
rs1000092883 -- 186,598,136(+) C/A genic_upstream_transcript_variant, 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)

Additional Variant Information for ITGAV Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ITGAV Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
west nile virus
  • west nile virus, susceptibility to
pharyngoconjunctival fever
  • adenoviral pharyngoconjunctivitis
cerebral hypoxia
  • brain hypoxia
priapism
  • priapism, familial idiopathic
insulin-like growth factor i
  • insulin-like growth factor i, resistance to
- elite association - COSMIC cancer census association via MalaCards
Search ITGAV in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ITGAV

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 PA (The Journal of biological chemistry 2007) 3 4 22 58
  2. The ITGAV rs3738919-C allele is associated with rheumatoid arthritis in the European Caucasian population: a family-based study. (PMID: 17615072) Jacq L … European Consortium on Rheumatoid Arthritis Families (Arthritis research & therapy 2007) 3 22 44 58
  3. Cloning and characterisation of ITGAV, the genomic sequence for human cell adhesion protein (vitronectin) receptor alpha subunit, CD51. (PMID: 10965141) Sims MA … Campbell DA (Cytogenetics and cell genetics 2000) 3 4 22 58
  4. Direct integrin binding to insulin-like growth factor-2 through the C-domain is required for insulin-like growth factor receptor type 1 (IGF1R) signaling. (PMID: 28873464) Cedano Prieto DM … Takada Y (PloS one 2017) 3 4 58
  5. The CD9, CD81, and CD151 EC2 domains bind to the classical RGD-binding site of integrin αvβ3. (PMID: 27993971) Yu J … Takada Y (The Biochemical journal 2017) 3 4 58

Products for ITGAV Gene

  • Addgene plasmids for ITGAV