Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3675
Gene name Gene Name - the full gene name approved by the HGNC.
Integrin subunit alpha 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ITGA3
Synonyms (NCBI Gene) Gene synonyms aliases
CD49C, FRP-2, GAP-B3, GAPB3, ILNEB, JEB7, MSK18, VCA-2, VL3A, VLA3a
Disease Acronyms (UniProt) Disease acronyms from UniProt database
JEB7
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.33
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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:0005178 Function Integrin binding IEA
GO:0005515 Function Protein binding IPI 1911778, 9360996, 10811835, 14557253, 14676841, 24220332
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605025 6139 ENSG00000005884
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Epidermolysis bullosa simplex EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE rs1565118389, rs121918354, rs1558193923, rs786205251, rs786205253, rs786205254, rs80338756, rs864309671, rs137853160, rs864309672, rs137853161, rs59629244, rs60399023, rs58330629, rs57121345
View all (61 more)
26719633, 23114595
Junctional epidermolysis bullosa Junctional Epidermolysis Bullosa rs80356682, rs121912482, rs786205095, rs769151482, rs118203901, rs121912467, rs121912468, rs121912769, rs80356681, rs370148688, rs770302956, rs778012079, rs201307156, rs1057516759, rs1057517096
View all (17 more)
23114595, 26719633
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
Narcolepsy Narcolepsy rs104894574, rs387906655 19629137
Unknown
Disease term Disease name Evidence References Source
Epidermolysis Bullosa epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome GenCC
Diabetes Diabetes GWAS
Associations from Text Mining
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