Gene Gene information from NCBI Gene database.
Entrez ID 3685
Gene name Integrin subunit alpha V
Gene symbol ITGAV
Synonyms (NCBI Gene)
CD51MSK8VNRAVTNR
Chromosome 2
Chromosome location 2q32.1
Summary 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
miRNA miRNA information provided by mirtarbase database.
575
miRTarBase ID miRNA Experiments Reference
MIRT021641 hsa-miR-142-3p Microarray 17612493
MIRT024872 hsa-miR-215-5p Microarray 19074876
MIRT026088 hsa-miR-196a-5p Sequencing 20371350
MIRT026587 hsa-miR-192-5p Microarray 19074876
MIRT028372 hsa-miR-32-5p Sequencing 20371350
Transcription factors Transcription factors information provided by TRRUST V2 database.
6
Transcription factor Regulation Reference
FOSL1 Repression 23319049
HOXD3 Unknown 14610084
JUND Repression 23319049
SP1 Repression 23319049
SP1 Unknown 12136940
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
123
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IBA
GO:0001525 Process Angiogenesis IEA
GO:0001525 Process Angiogenesis IEP 11866539
GO:0001568 Process Blood vessel development IEA
GO:0001570 Process Vasculogenesis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
193210 6150 ENSG00000138448
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P06756
Protein name Integrin alpha-V (Vitronectin receptor) (Vitronectin receptor subunit alpha) (CD antigen CD51) [Cleaved into: Integrin alpha-V heavy chain; Integrin alpha-V light chain]
Protein 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 ar
PDB 1JV2 , 1L5G , 1M1X , 1U8C , 3IJE , 4G1E , 4G1M , 4MMX , 4MMY , 4MMZ , 4O02 , 4UM8 , 4UM9 , 5FFG , 5FFO , 5NEM , 5NER , 5NET , 5NEU , 6AVQ , 6AVR , 6AVU , 6DJP , 6MK0 , 6MSL , 6MSU , 6NAJ , 6OM1 , 6OM2 , 6UJA , 6UJB , 6UJC , 7Y1T , 8IJ5 , 8TCF , 8TCG , 8VS6 , 8VSD , 8W30 , 8XEI , 8XEK , 8XEL , 8XEN , 8XER , 8XEZ , 8XF6 , 8XFG , 8XFO , 9CZ7 , 9CZA , 9CZD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01839 FG-GAP 252 286 FG-GAP repeat Repeat
PF01839 FG-GAP 306 348 FG-GAP repeat Repeat
PF01839 FG-GAP 370 406 FG-GAP repeat Repeat
PF08441 Integrin_alpha2 467 914 Integrin alpha Family
PF00357 Integrin_alpha 1017 1031 Integrin alpha cytoplasmic region Family
Sequence
MAFPPRRRLRLGPRGLPLLLSGLLLPLCRAFNLDVDSPAEYSGPEGSYFGFAVDFFVPSA
SSRMFLLVGAPKANTTQPGIVEGGQVLKCDWSSTRRCQPIEFDATGNRDYAKDDPLEFKS
HQWFGASVRSKQDKILACAPLYHWRTEMKQEREPVGTCFLQDGTKTVEYAPCRSQDIDAD
GQGFCQGGFSIDFTKADRVLLGGPGSFYWQGQLISDQVAEIVSKYDPNVYSIKYNNQLAT
RTAQAIFDDSYLGYSVAVGDFNGDGIDDFVSGVPRAARTLGMVYIYDGKNMSSLYNFTGE
QMAAYFGFSVAATDINGDDYADVFIGAPLFMDRGSDGKLQEVGQVSVSLQRASGDFQTTK
LNGFEVFARFGSAIAPLGDLDQDGFNDIAIAAPYGGEDKKGIVYIFNGRSTGLNAVPSQI
LEGQWAARSMPPSFGYSMKGATDIDKNGYPDLIVGAFGVDRAILYRARPVITVNAGLEVY
PSILNQDNKTCSLPGTALKVSCFNVRFCLKADGKGVLPRKLNFQVELLLDKLKQKGAIRR
ALFLYSRSPSHSKNMTISRGGLMQCEELIAYLRDESEFRDKLTPITIFMEYRLDYRTAAD
TTGLQPILNQFTPANISRQAHILLDCGEDNVCKPKLEVSVDSDQKKIYIGDDNPLTLIVK
AQNQGEGAYEAELIVSIPLQADFIGVVRNNEALARLSCAFKTENQTRQVVCDLGNPMKAG
TQLLAGLRFSVHQQSEMDTSVKFDLQIQSSNLFDKVSPVVSHKVDLAVLAAVEIRGVSSP
DHVFLPIPNWEHKENPETEEDVGPVVQHIYELRNNGPSSFSKAMLHLQWPYKYNNNTLLY
ILHYDIDGPMNCTSDMEINPLRIKISSLQTTEKNDTVAGQGERDHLITKRDLALSEGDIH
TLGCGVAQCLKIVC
QVGRLDRGKSAILYVKSLLWTETFMNKENQNHSYSLKSSASFNVIE
FPYKNLPIEDITNSTLVTTNVTWGIQPAPMPVPVWVIILAVLAGLLLLAVLVFVMYRMGF
FKRVRPPQEEQ
EREQLQPHENGEGNSET
Sequence length 1048
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Hormone signaling
Phagosome
Efferocytosis
PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Cell adhesion molecules
Regulation of actin cytoskeleton
Cytoskeleton in muscle cells
Thyroid hormone signaling pathway
Human cytomegalovirus infection
Human papillomavirus infection
Pathways in cancer
Proteoglycans in cancer
Small cell lung cancer
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
Fluid shear stress and atherosclerosis
  Cross-presentation of particulate exogenous antigens (phagosomes)
Elastic fibre formation
PECAM1 interactions
Molecules associated with elastic fibres
Integrin cell surface interactions
Syndecan interactions
ECM proteoglycans
VEGFA-VEGFR2 Pathway
Signal transduction by L1
Neutrophil degranulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
IMMUNE DYSREGULATION, NEURODEVELOPMENTAL DEFECTS, AND COLITIS Pathogenic; Likely pathogenic rs1357935457, rs1443125036, rs1688922276, rs2468408721 RCV005862551
RCV005862552
RCV005862553
RCV005862554
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ITGAV deficiency Pathogenic; Likely pathogenic rs1357935457, rs1443125036, rs1688922276, rs2468408721 RCV004555913
RCV004555914
RCV004555916
RCV004556873
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBRAL HEMORRHAGE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR ACCIDENT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Cerebrovascular Accidents Stroke CTD_human_DG 9445356
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 15609323
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 19326399
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 11911248
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 19326399
★☆☆☆☆
Found in Text Mining only
Anaplastic astrocytoma Anaplastic Astrocytoma BEFREE 15994925
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 31199988
★☆☆☆☆
Found in Text Mining only
Aplasia Cutis Congenita Aplasia Cutis Congenita BEFREE 19326399
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 11529880
★☆☆☆☆
Found in Text Mining only
Arteriovenous Malformations Arteriovenous malformations Pubtator 31519800 Associate
★☆☆☆☆
Found in Text Mining only