Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3690
Gene name Gene Name - the full gene name approved by the HGNC.
Integrin subunit beta 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ITGB3
Synonyms (NCBI Gene) Gene synonyms aliases
BDPLT16, BDPLT2, BDPLT24, CD61, FMAIT1, GP3A, GPIIIa, GT, GT2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
BDPLT16, BDPLT24, GT2
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.32
Summary Summary of gene provided in NCBI Entrez Gene.
The ITGB3 protein product is the integrin beta chain beta 3. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. Integrin beta 3 is fo
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs5918 T>C Risk-factor, benign, likely-benign Coding sequence variant, missense variant
rs79560904 G>A Pathogenic Missense variant, coding sequence variant
rs79775494 A>T Pathogenic Missense variant, coding sequence variant
rs121918444 G>A Pathogenic Coding sequence variant, missense variant
rs121918445 G>A,T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000708 hsa-let-7a-5p qRT-PCR, Luciferase reporter assay, Western blot 18679415
MIRT000708 hsa-let-7a-5p Luciferase reporter assay 18679415
MIRT005833 hsa-miR-204-5p Microarray 21282569
MIRT007133 hsa-miR-30c-5p qRT-PCR 23418453
MIRT022107 hsa-miR-125b-5p Other 20194440
Transcription factors
Transcription factor Regulation Reference
ETS1 Unknown 11556732
FOSL1 Repression 23319049
HOXA10 Unknown 11875117
HOXD3 Unknown 14610084
JUND Repression 23319049
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001618 Function Virus receptor activity IEA
GO:0001934 Process Positive regulation of protein phosphorylation TAS 19267251
GO:0001938 Process Positive regulation of endothelial cell proliferation IMP 10022831
GO:0001968 Function Fibronectin binding IBA 21873635
GO:0001968 Function Fibronectin binding IMP 24658351
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
173470 6156 ENSG00000259207
Protein
UniProt ID P05106
Protein name Integrin beta-3 (Platelet membrane glycoprotein IIIa) (GPIIIa) (CD antigen CD61)
Protein function Integrin alpha-V/beta-3 (ITGAV:ITGB3) is a receptor for cytotactin, fibronectin, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin, vitronectin and von Willebrand factor. Integrin alpha-IIb/beta-3 (ITGA2
PDB 1JV2 , 1KUP , 1KUZ , 1L5G , 1M1X , 1M8O , 1MIZ , 1MK7 , 1MK9 , 1S4X , 1TYE , 1U8C , 2K9J , 2KNC , 2KV9 , 2L1C , 2L91 , 2LJD , 2LJE , 2LJF , 2MTP , 2N9Y , 2Q6W , 2RMZ , 2RN0 , 2VC2 , 2VDK , 2VDL , 2VDM , 2VDN , 2VDO , 2VDP , 2VDQ , 2VDR , 3FCS , 3FCU , 3IJE , 3NID , 3NIF , 3NIG , 3T3M , 3T3P , 3ZDX , 3ZDY , 3ZDZ , 3ZE0 , 3ZE1 , 3ZE2 , 4CAK , 4G1E , 4G1M
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17205 PSI_integrin 29 76 Integrin plexin domain Domain
PF00362 Integrin_beta 133 381 Integrin beta chain VWA domain Domain
PF18372 I-EGF_1 463 492 Integrin beta epidermal growth factor like domain 1 Domain
PF07974 EGF_2 593 624 EGF-like domain Domain
PF07965 Integrin_B_tail 634 718 Integrin beta tail domain Domain
PF08725 Integrin_b_cyt 742 786 Integrin beta cytoplasmic domain Domain
Tissue specificity TISSUE SPECIFICITY: Isoform beta-3A and isoform beta-3C are widely expressed. Isoform beta-3A is specifically expressed in osteoblast cells; isoform beta-3C is specifically expressed in prostate and testis.
Sequence
Sequence length 788
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Virion - Herpesvirus
Rap1 signaling pathway
Hormone signaling
Phagosome
Efferocytosis
PI3K-Akt signaling pathway
Osteoclast differentiation
Focal adhesion
ECM-receptor interaction
Platelet activation
Neutrophil extracellular trap formation
Hematopoietic cell lineage
Regulation of actin cytoskeleton
Cytoskeleton in muscle cells
Thyroid hormone signaling pathway
Human cytomegalovirus infection
Human papillomavirus infection
Herpes simplex virus 1 infection
Proteoglycans in cancer
MicroRNAs in cancer
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
Fluid shear stress and atherosclerosis
  Platelet degranulation
Elastic fibre formation
PECAM1 interactions
Molecules associated with elastic fibres
Integrin cell surface interactions
Syndecan interactions
ECM proteoglycans
Integrin signaling
GRB2:SOS provides linkage to MAPK signaling for Integrins
p130Cas linkage to MAPK signaling for integrins
VEGFA-VEGFR2 Pathway
Signal transduction by L1
MAP2K and MAPK activation
Signaling by moderate kinase activity BRAF mutants
Signaling by high-kinase activity BRAF mutants
Signaling by BRAF and RAF fusions
Paradoxical activation of RAF signaling by kinase inactive BRAF
Signaling downstream of RAS mutants
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Autism spectrum disorder Autism Spectrum Disorders rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728
View all (51 more)
21254450
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
17203304, 16724005, 16721604
Cerebral palsy Cerebral Palsy rs121918149, rs75184679, rs730880264, rs587777428, rs797045067, rs767399782, rs564185858, rs886039513
Unknown
Disease term Disease name Evidence References Source
Alloimmune thrombocytopenia Fetal and neonatal alloimmune thrombocytopenia, Neonatal Alloimmune Thrombocytopenia 19821948, 7694683, 2257303 ClinVar
Coronary syndrome Acute Coronary Syndrome 15840736 ClinVar
Myocardial infarction Myocardial Infarction 8598867 ClinVar
Thrombasthenia Glanzmann's thrombasthenia GenCC
Associations from Text Mining
Disease Name Relationship Type References
Abortion Habitual Associate 21109038, 22698642
Acute Coronary Syndrome Associate 16412022
Acute Phase Reaction Inhibit 27960568
Adenocarcinoma Associate 25066397
Adenocarcinoma of Lung Associate 25066397, 28860622
Alzheimer Disease Associate 28318110
Anemia Sickle Cell Associate 9840906
Angina Stable Associate 18035074
Angina Unstable Associate 10583927, 15346842
Arthritis Rheumatoid Associate 10792278