Gene Gene information from NCBI Gene database.
Entrez ID 3675
Gene name Integrin subunit alpha 3
Gene symbol ITGA3
Synonyms (NCBI Gene)
CD49CFRP-2GAP-B3GAPB3ILNEBJEB7MSK18VCA-2VL3AVLA3a
Chromosome 17
Chromosome location 17q21.33
Summary The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function as cell surface adhesion molecules. The encoded preproprotein is pro
SNPs SNP information provided by dbSNP.
7
SNP ID Visualize variation Clinical significance Consequence
rs140781106 G>A,C Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs200810866 C>T Likely-pathogenic Non coding transcript variant, stop gained, coding sequence variant
rs540704248 C>G,T Likely-pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs797044989 C>T Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs797045048 G>A Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
509
miRTarBase ID miRNA Experiments Reference
MIRT022979 hsa-miR-124-3p Microarray 18668037
MIRT023953 hsa-miR-1-3p Proteomics 18668040
MIRT029991 hsa-miR-26b-5p Microarray 19088304
MIRT022979 hsa-miR-124-3p HITS-CLIP 23313552
MIRT702665 hsa-miR-3173-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
87
GO ID Ontology Definition Evidence Reference
GO:0001764 Process Neuron migration IEA
GO:0001968 Function Fibronectin binding IEA
GO:0002020 Function Protease binding IPI 10455171
GO:0003008 Process System process IEA
GO:0005178 Function Integrin binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605025 6139 ENSG00000005884
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P26006
Protein name Integrin alpha-3 (CD49 antigen-like family member C) (FRP-2) (Galactoprotein B3) (GAPB3) (VLA-3 subunit alpha) (CD antigen CD49c) [Cleaved into: Integrin alpha-3 heavy chain; Integrin alpha-3 light chain]
Protein function Integrin alpha-3/beta-1 is a receptor for fibronectin, laminin, collagen, epiligrin, thrombospondin and CSPG4. Integrin alpha-3/beta-1 provides a docking site for FAP (seprase) at invadopodia plasma membranes in a collagen-dependent manner and h
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01839 FG-GAP 307 345 FG-GAP repeat Repeat
PF01839 FG-GAP 370 402 FG-GAP repeat Repeat
PF08441 Integrin_alpha2 462 916 Integrin alpha Family
Tissue specificity TISSUE SPECIFICITY: Isoform 1 is widely expressed. Isoform 2 is expressed in brain and heart. In brain, both isoforms are exclusively expressed on vascular smooth muscle cells, whereas in heart isoform 1 is strongly expressed on vascular smooth muscle cel
Sequence
MGPGPSRAPRAPRLMLCALALMVAAGGCVVSAFNLDTRFLVVKEAGNPGSLFGYSVALHR
QTERQQRYLLLAGAPRELAVPDGYTNRTGAVYLCPLTAHKDDCERMNITVKNDPGHHIIE
DMWLGVTVASQGPAGRVLVCAHRYTQVLWSGSEDQRRMVGKCYVRGNDLELDSSDDWQTY
HNEMCNSNTDYLETGMCQLGTSGGFTQNTVYFGAPGAYNWKGNSYMIQRKEWDLSEYSYK
DPEDQGNLYIGYTMQVGSFILHPKNITIVTGAPRHRHMGAVFLLSQEAGGDLRRRQVLEG
SQVGAYFGSAIALADLNNDGWQDLLVGAPYYFERKEEVGGAIYVFMNQAGTSFPAHPSLL
LHGPSGSAFGLSVASIGDINQDGFQDIAVGAPFEGLGKVYIYHSSSKGLLRQPQQVIHGE
KLGLPGLATFGYSLSGQMDVDENFYPDLLVGSLSDHIVLLRARPVINIVHKTLVPRPAVL
DPALCTATSCVQVELCFAYNQSAGNPNYRRNITLAYTLEADRDRRPPRLRFAGSESAVFH
GFFSMPEMRCQKLELLLMDNLRDKLRPIIISMNYSLPLRMPDRPRLGLRSLDAYPILNQA
QALENHTEVQFQKECGPDNKCESNLQMRAAFVSEQQQKLSRLQYSRDVRKLLLSINVTNT
RTSERSGEDAHEALLTLVVPPALLLSSVRPPGACQANETIFCELGNPFKRNQRMELLIAF
EVIGVTLHTRDLQVQLQLSTSSHQDNLWPMILTLLVDYTLQTSLSMVNHRLQSFFGGTVM
GESGMKTVEDVGSPLKYEFQVGPMGEGLVGLGTLVLGLEWPYEVSNGKWLLYPTEITVHG
NGSWPCRPPGDLINPLNLTLSDPGDRPSSPQRRRRQLDPGGGQGPPPVTLAAAKKAKSET
VLTCATGRAHCVWLEC
PIPDAPVVTNVTVKARVWNSTFIEDYRDFDRVRVNGWATLFLRT
SIPTINMENKTTWFSVDIDSELVEELPAEIELWLVLVAVGAGLLLLGLIILLLWKCGFFK
RARTRALYEAKRQKAEMKSQPSETERLTDDY
Sequence length 1051
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Hematopoietic cell lineage
Regulation of actin cytoskeleton
Cytoskeleton in muscle cells
Human papillomavirus infection
Pathways in cancer
Small cell lung cancer
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
  Basigin interactions
Integrin cell surface interactions
Laminin interactions
MET activates PTK2 signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
155
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome Likely pathogenic; Pathogenic rs797044989, rs797045048, rs1416855722, rs774274614, rs2508935534, rs1567701091, rs140781106, rs200810866, rs775389411 RCV000190470
RCV000191096
RCV005010888
RCV003993552
RCV000029226
RCV000029227
RCV000029228
RCV002481814
RCV001289541
ITGA3-related disorder Likely pathogenic rs776593477, rs777480064, rs200623247 RCV003400245
RCV003397427
RCV004755004
Malignant tumor of esophagus Likely pathogenic rs200810866 RCV005912377
Nephrotic syndrome Likely pathogenic; Pathogenic rs2144304926, rs140781106 RCV001849696
RCV001849284
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Likely benign; Benign rs115842631, rs9915852, rs61730085 RCV005918599
RCV005922976
RCV005913218
Cholangiocarcinoma Benign rs2269770 RCV005924683
Clear cell carcinoma of kidney Benign; Likely benign rs61730089, rs61730085 RCV005904961
RCV005913219
Familial cancer of breast Uncertain significance rs781502548 RCV005932051
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Aortic Syndrome Associate 32851057
Acute Disease Associate 32851057
Adenocarcinoma Stimulate 16489176
Aortic Dissection Associate 32851057
Arthritis Rheumatoid Associate 9691097
Brain Diseases Associate 31758065
Breast Neoplasms Inhibit 29462126
Breast Neoplasms Associate 30659093, 33500458
Carcinoma Ductal Associate 24950714
Carcinoma Intraductal Noninfiltrating Associate 26464707