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 ... See more...

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
  • Integrin Alpha-V 3 4
  • CD51 2 3
  • MSK8 3 4
  • VNRA 3 4
  • VTNR 3 4
  • Integrin AlphaVbeta3 3
  • Integrin, Alpha V 2
  • CD51 Antigen 4
  • ITGAV 5

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 Herpes Simplex. Among its related pathways are Integrin Pathway and Signaling by GPCR. 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 Summary 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). Integrin alpha-V/beta-6 or alpha-V/beta-8 (ITGAV:ITGB6 or ITGAV:ITGB8) mediates R-G-D-dependent release of transforming growth factor beta-1 (TGF-beta-1) from regulatory Latency-associated peptide (LAP), thereby playing a key role in TGF-beta-1 activation (PubMed:15184403, PubMed:22278742, PubMed:28117447). ITGAV:ITGB3 act as a receptor for CD40LG (PubMed:31331973).
  • (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 Kaposi's sarcoma lesions.

Gene Wiki entry for ITGAV Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ITGAV Gene

Genomics for ITGAV Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ITGAV Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ITGAV

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

Genomic Locations for ITGAV Gene

Genomic Locations for ITGAV Gene
chr2:186,590,056-186,680,902
(GRCh38/hg38)
Size:
90,847 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 CCN3 (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). ITGAV:ITGB6 interacts with TGFB1 (PubMed:22278742, PubMed:28117447). ITGAV:ITGB3 interacts with PTN (PubMed:19141530). Forms a complex with PTPRZ1 and PTN that stimulates endothelial cell migration through ITGB3 'Tyr-773' phosphorylation (PubMed:19141530).
    • (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=Extended N-terminus.; 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 Asn74, Asn290, Asn296, Asn488, Asn554, Asn615, Asn704, Asn835, Asn851, Asn874, Asn945, Asn973, and Asn980
  • Ubiquitination at Lys233 and Lys360
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for ITGAV Gene

Antibody 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

Protein Domains for ITGAV Gene

InterPro:
Blocks:
  • Integrins alpha chain
  • Integrin alpha chain, C-terminal cytoplasmic region
  • FG-GAP
ProtoNet:

Suggested Antigen Peptide Sequences for ITGAV Gene

GenScript: Design optimal peptide antigens:
  • ITGAV protein (A5YM53_HUMAN)
  • cDNA FLJ57822, highly similar to Integrin alpha-V (B4DYQ7_HUMAN)
  • ITGAV protein (B7ZLX0_HUMAN)
  • Vitronectin receptor subunit alpha (ITAV_HUMAN)

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). Integrin alpha-V/beta-6 or alpha-V/beta-8 (ITGAV:ITGB6 or ITGAV:ITGB8) mediates R-G-D-dependent release of transforming growth factor beta-1 (TGF-beta-1) from regulatory Latency-associated peptide (LAP), thereby playing a key role in TGF-beta-1 activation (PubMed:15184403, PubMed:22278742, PubMed:28117447). ITGAV:ITGB3 act as a receptor for CD40LG (PubMed:31331973).
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 Kaposi's 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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ITGAV

Clone Products

  • Addgene plasmids for ITGAV

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

Cell 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 2
nucleus 2
endoplasmic reticulum 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 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:0005623 cell IEA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA,TAS --
GO:0005887 integral component of plasma membrane TAS,NAS 11877390
GO:0005925 focal adhesion IDA 17158881
genes like me logo Genes that share ontologies with ITGAV: view

Pathways & Interactions for ITGAV Gene

PathCards logo

SuperPathways for ITGAV Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
.66
.65
.64
.62
.57
2 ERK Signaling
.61
.61
.58
.51
.49
3 Integrin Pathway
.67
.67
.56
.56
.38
4 Focal Adhesion
.33
5 Actin Nucleation by ARP-WASP Complex
.66
.66
.41
.35
genes like me logo Genes that share pathways with ITGAV: view

Pathways by source for ITGAV Gene

6 GeneGo (Thomson Reuters) pathways for ITGAV Gene
  • Cell adhesion Integrin inside-out signaling
  • Cell adhesion_Endothelial cell contacts by non-junctional mechanisms
  • Cytoskeleton remodeling Fibronectin-binding integrins in cell motility
  • Cytoskeleton remodeling Integrin outside-in signaling
  • Development VEGF signaling via VEGFR2 - generic cascades
2 Tocris pathways for ITGAV Gene
35 Qiagen pathways for ITGAV Gene
  • Actin Nucleation and Branching
  • Actin Nucleation by ARP-WASP Complex
  • Actin-Based Motility by Rho Family GTPases
  • Agrin Interactions at Neuromuscular Junction
  • Akt Signaling
3 Cell Signaling Technology pathways for ITGAV Gene

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:0007155 cell adhesion IDA 10218736
genes like me logo Genes that share ontologies with ITGAV: view

No data available for SIGNOR curated interactions for ITGAV Gene

Drugs & Compounds for ITGAV Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Antithymocyte immunoglobulin (rabbit) Approved Pharma Target 0
Levothyroxine Approved Pharma Target 0
Cilengitide Investigational Pharma inhibitor Integrin inhibitor for αvβ3 and αvβ5, Integrins 0
Volociximab Investigational Pharma Antibody Integrins 10
CWHM-12 Pharma 0

(5) 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

mRNA/cDNA for ITGAV Gene

3 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ITGAV

Clone Products

  • Addgene plasmids for ITGAV

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

Expression for ITGAV Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ITGAV

SOURCE GeneReport for Unigene cluster for ITGAV Gene:

Hs.436873

Evidence on tissue expression from TISSUES for ITGAV Gene

  • Liver(4.6)
  • Nervous system(4.2)
  • Heart(3.5)
  • Muscle(3.1)
  • Kidney(3.1)
  • Blood(3.1)
  • Eye(3)
  • Skin(3)
  • Spleen(2.9)
  • Intestine(2.9)
  • Lung(2.7)
  • Bone(2.7)
  • Lymph node(2.7)
  • Thyroid gland(2.6)
  • Bone marrow(2.5)
  • Pancreas(2.4)
  • Stomach(2.2)
  • Adrenal gland(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 30 31
  • 99.65 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ITGAV 30 31
  • 91.76 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ITGAV 30 31
  • 89.62 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ITGAV 31
  • 88 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Itgav 30 17 31
  • 87.87 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 86 (a)
OneToMany
-- 31
  • 85 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Itgav 30
  • 85.23 (n)
Chicken
(Gallus gallus)
Aves ITGAV 30 31
  • 78.43 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ITGAV 31
  • 79 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia itgav 30
  • 70.93 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC397997 30
Zebrafish
(Danio rerio)
Actinopterygii itgav 30 31
  • 62.62 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta scb 32
  • 24 (a)
if 31 32
  • 23 (a)
OneToMany
alphaPS4 32
  • 23 (a)
alphaPS5 32
  • 22 (a)
Worm
(Caenorhabditis elegans)
Secernentea F54F2.1 32
  • 30 (a)
pat-2 31
  • 26 (a)
OneToMany
ina-1 32
  • 24 (a)
Species where no ortholog for ITGAV was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ITGAV Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
743753 Likely Benign: not provided 186,656,411(+) A/G INTRON_VARIANT
772853 Benign: not provided 186,656,392(+) G/A SYNONYMOUS_VARIANT
785019 Benign: not provided 186,640,975(+) T/A INTRON_VARIANT
785020 Benign: not provided 186,676,848(+) G/A SYNONYMOUS_VARIANT
787777 Benign: not provided 186,625,505(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ITGAV Gene

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

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

Disorder Aliases PubMed IDs
west nile virus
  • west nile virus, susceptibility to
herpes simplex
  • herpesvirus hominis disease
insulin-like growth factor i
  • insulin-like growth factor i, resistance to
priapism
  • priapism, familial idiopathic
pharyngoconjunctival fever
  • adenoviral pharyngoconjunctivitis
- 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
Open Targets Platform
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. Polymorphisms in predicted microRNA-binding sites in integrin genes and breast cancer: ITGB4 as prognostic marker. (PMID: 18550570) Brendle A … Försti A (Carcinogenesis 2008) 3 23 41
  2. 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 23
  3. 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 23 41
  4. 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 23
  5. Integrin Binding to the Trimeric Interface of CD40L Plays a Critical Role in CD40/CD40L Signaling. (PMID: 31331973) Takada YK … Takada Y (Journal of immunology (Baltimore, Md. : 1950) 2019) 3 4

Products for ITGAV Gene

Sources for ITGAV Gene