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ITGB3 (integrin subunit beta 3)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3690
Gene nameGene Name - the full gene name approved by the HGNC.
Integrin subunit beta 3
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ITGB3
SynonymsGene synonyms aliases
BDPLT16, BDPLT2, BDPLT24, CD61, FMAIT1, GP3A, GPIIIa, GT, GT2
ChromosomeChromosome number
17
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.32
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
Sequence length 788
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
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
Causal
Disease name Disease term dbSNP ID References
Alloimmune thrombocytopenia Fetal and neonatal alloimmune thrombocytopenia, Neonatal Alloimmune Thrombocytopenia rs1555572829 19821948, 7694683, 2257303
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Autism spectrum disorder Autism Spectrum Disorders rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728, rs762292772, rs864321694, rs869312878, rs758432471, rs750896617, rs886039692, rs886039770, rs201037487, rs200483989, rs1057518198, rs1057517708, rs780267761, rs1555910143, rs1057519632, rs775225727, rs751037529, rs1064794848, rs1064795655, rs1131691548, rs1135401811, rs1553248081, rs1454466097, rs1554480537, rs1553578503, rs1553518509, rs774152851, rs1554481395, rs1554464807, rs1554401434, rs1452048149, rs370498156, rs756691187, rs1557863430, rs1557863440, rs1557863546, rs769581210, rs202098093, rs1276388879, rs778792467, rs760059077, rs373783340, rs1557867853, rs772572695, rs753214391, rs749270162, rs548226228, rs1557870645, rs1557874046, rs749548928, rs754532606, rs1557901347, rs1557902023, rs1557909572, rs574335012, rs1557909821, rs1372713010, rs561369202, rs1476293577, rs1557910728, rs1557911386, rs375045125, rs998675361, rs1557916296, rs1557935477, rs866632178, rs1561824498, rs1396313317, rs1564801388, rs1564801473, rs1564950387, rs1565527302, rs1569513495, rs1569305431, rs143944436, rs1563183492, rs1561846159, rs1565819425, rs1562957809, rs1585645641, rs1585016242, rs1595127294, rs1585667374, rs1585653028, rs1585653240, rs1592919048, rs1585645384, rs1789927813 21254450
Autism Autistic Disorder rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634 17203304, 16724005, 16721604
Unknown
Disease name Disease term dbSNP ID References
Carotid artery thrombosis Carotid Artery Thrombosis 1605806
Common carotid artery thrombosis Common Carotid Artery Thrombosis 1605806
Coronary syndrome Acute Coronary Syndrome rs4986893 15840736
Coronary thrombosis Coronary Thrombosis 8598867

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