ITGB3 (integrin subunit beta 3) - Rat Genome Database
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Gene: ITGB3 (integrin subunit beta 3) Homo sapiens
Analyze
Symbol: ITGB3
Name: integrin subunit beta 3
RGD ID: 1345363
HGNC Page HGNC
Description: Exhibits several functions, including fibronectin binding activity; protein disulfide isomerase activity; and signaling receptor binding activity. Contributes to C-X3-C chemokine binding activity and growth factor binding activity. Involved in several processes, including negative regulation of lipid localization; positive regulation of protein phosphorylation; and regulation of receptor-mediated endocytosis. Localizes to several cellular components, including alphav-beta3 integrin-HMGB1 complex; alphav-beta3 integrin-IGF-1-IGF1R complex; and cell projection membrane. Implicated in several diseases, including acute myeloid leukemia; autoimmune thrombocytopenic purpura; blood platelet disease (multiple); end stage renal disease; and non-arteritic anterior ischemic optic neuropathy. Biomarker of several diseases, including Graves' disease; carcinoma (multiple); diabetic retinopathy; myelodysplastic syndrome; and platelet-type bleeding disorder 16.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: antigen CD61; BDPLT16; BDPLT2; CD61; GP3A; GPIIIa; GT; integrin beta 3; integrin beta chain, beta 3; integrin beta-3; integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61); platelet glycoprotein IIIa; platelet membrane glycoprotein IIIa
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1747,253,827 - 47,313,743 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1747,253,846 - 47,311,816 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1747,253,846 - 47,313,735 (+)EnsemblGRCh38hg38GRCh38
GRCh381747,253,827 - 47,313,743 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371745,331,193 - 45,391,109 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361742,686,207 - 42,745,076 (+)NCBINCBI36hg18NCBI36
Build 341742,686,206 - 42,745,076NCBI
Celera1741,781,276 - 41,840,192 (+)NCBI
Cytogenetic Map17q21.32NCBI
HuRef1740,709,287 - 40,768,167 (+)NCBIHuRef
CHM1_11745,396,156 - 45,455,032 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Acute Coronary Syndrome  (EXP)
acute myeloid leukemia  (IMP,ISO)
Arterial Occlusive Diseases  (ISO)
arteriosclerosis  (ISO)
asthma  (IAGP)
autism spectrum disorder  (EXP)
autistic disorder  (EXP)
autoimmune thrombocytopenic purpura  (IDA,ISO)
bacterial pneumonia  (ISO)
Banti's Syndrome  (IAGP)
Bronchial Hyperreactivity  (IAGP)
Carotid Artery Injuries  (ISO)
carotid artery thrombosis  (EXP)
carotid stenosis  (ISO)
Cerebral Hemorrhage  (EXP)
colorectal carcinoma  (IEP)
Coronary Disease  (IAGP)
coronary thrombosis  (EXP)
diabetic retinopathy  (IEP)
end stage renal disease  (IAGP)
Endotoxemia  (ISO)
Experimental Arthritis  (ISO)
Experimental Diabetes Mellitus  (ISO)
Experimental Liver Cirrhosis  (EXP)
focal segmental glomerulosclerosis  (ISO)
Glanzmann's thrombasthenia  (EXP,IAGP)
Gliosis  (EXP)
glomerulonephritis  (IEP,ISO)
Graves' disease  (IEP)
Hantavirus hemorrhagic fever with renal syndrome  (IEP)
Hantavirus Infections  (ISO)
Hemorrhage  (EXP)
hemorrhagic disease  (IAGP)
Hip Fractures  (EXP)
lung disease  (ISO)
lung non-small cell carcinoma  (IEP)
Mammary Neoplasms, Experimental  (ISO)
myelodysplastic syndrome  (IEP)
myocardial infarction  (EXP,IAGP)
Neonatal Alloimmune Thrombocytopenia  (EXP,IAGP)
Neoplasm Metastasis  (IAGP,ISO)
non-arteritic anterior ischemic optic neuropathy  (IAGP)
Pathologic Constriction  (IAGP)
Plaque, Atherosclerotic  (IAGP)
platelet-type bleeding disorder 16  (IAGP,IDA,IEP)
pneumonia  (ISO)
Posttransfusion Purpura  (IAGP)
Prostatic Neoplasms  (EXP)
Reperfusion Injury  (ISO)
Stroke  (EXP,IAGP,ISO)
Sudden Cardiac Death  (IAGP)
thrombocytopenia  (EXP,IAGP)
Thrombocytopenic Purpura  (IDA,ISO)
Thrombotic Microangiopathies  (IEP)
transient cerebral ischemia  (ISO)
Ulcer  (IAGP)
Venous Thrombosis  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(S)-nicotine  (EXP)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,3',5-triiodo-L-thyronine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (EXP,ISO)
acrolein  (EXP,ISO)
ADP  (EXP)
aldehydo-D-glucose  (EXP)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
apocynin  (EXP)
arachidonic acid  (EXP)
Arg-Gly-Asp  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
benzene-1,2,4-triol  (EXP)
benzo[a]pyrene  (EXP)
beryllium sulfate  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
C60 fullerene  (ISO)
cangrelor  (EXP)
cannabidiol  (ISO)
carbon disulfide  (ISO)
carbon nanotube  (ISO)
carmustine  (EXP,ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
clomiphene  (EXP)
clopidogrel  (EXP)
cobalt dichloride  (EXP)
cocaine  (ISO)
curcumin  (ISO)
cycloheximide  (EXP)
cypermethrin  (ISO)
D-glucose  (EXP)
desferrioxamine B  (ISO)
dextran sulfate  (ISO)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP)
dibenziodolium  (EXP)
diclofenac  (EXP)
diethylstilbestrol  (ISO)
dimethylarsinous acid  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
etoposide  (EXP)
fenofibrate  (ISO)
folic acid  (ISO)
geldanamycin  (EXP)
genistein  (EXP,ISO)
glucose  (EXP)
hydroquinone  (ISO)
hydroxysafflor yellow A  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
leuprolide  (EXP)
LY294002  (EXP)
manganese(II) chloride  (EXP,ISO)
methyl methanesulfonate  (EXP)
methyllycaconitine  (EXP)
midostaurin  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
monosodium L-glutamate  (ISO)
N-acetyl-L-cysteine  (EXP)
N-formyl-L-methionyl-L-leucyl-L-phenylalanine  (ISO)
N-nitrosodimethylamine  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
niclosamide  (EXP,ISO)
nicotine  (EXP)
nitric oxide  (EXP)
nitroprusside  (EXP)
orphenadrine  (ISO)
paracetamol  (EXP,ISO)
pentane-2,3-dione  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
quercetin  (EXP,ISO)
quinoline  (EXP)
resveratrol  (EXP)
serotonin  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
sulindac  (EXP)
tamoxifen  (ISO)
Tellimagrandin I  (EXP)
tert-butyl hydroperoxide  (ISO)
thyroxine  (EXP)
titanium dioxide  (ISO)
triadimefon  (EXP)
trichostatin A  (EXP,ISO)
triclosan  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
vorinostat  (EXP)
wortmannin  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activation of protein kinase activity  (IMP)
angiogenesis involved in wound healing  (TAS)
apolipoprotein A-I-mediated signaling pathway  (IMP)
apoptotic cell clearance  (IGI,ISO)
blood coagulation  (TAS)
cell adhesion  (TAS)
cell adhesion mediated by integrin  (IBA,IDA)
cell migration  (IBA)
cell-matrix adhesion  (IBA,IMP,ISO)
cell-substrate adhesion  (IMP)
cell-substrate junction assembly  (ISO)
cellular response to drug  (ISO)
cellular response to insulin-like growth factor stimulus  (ISO)
cellular response to mechanical stimulus  (ISO)
cellular response to platelet-derived growth factor stimulus  (ISO)
embryo implantation  (ISO)
extracellular matrix organization  (TAS)
heterotypic cell-cell adhesion  (IMP)
integrin-mediated signaling pathway  (HDA,IBA,IEA,TAS)
leukocyte migration  (TAS)
mesodermal cell differentiation  (IEP)
negative chemotaxis  (IMP)
negative regulation of cell death  (ISO)
negative regulation of lipid storage  (IMP)
negative regulation of lipid transport  (IMP)
negative regulation of lipoprotein metabolic process  (IMP)
negative regulation of low-density lipoprotein receptor activity  (IMP)
negative regulation of macrophage derived foam cell differentiation  (IMP)
platelet activation  (IMP)
platelet aggregation  (IEA,IMP,ISO)
platelet degranulation  (TAS)
platelet-derived growth factor receptor signaling pathway  (ISO)
positive regulation of adenylate cyclase-inhibiting opioid receptor signaling pathway  (ISO)
positive regulation of angiogenesis  (ISO)
positive regulation of bone resorption  (ISO)
positive regulation of cell adhesion mediated by integrin  (ISO)
positive regulation of cell migration  (ISO)
positive regulation of cell-matrix adhesion  (ISO)
positive regulation of endothelial cell migration  (IMP)
positive regulation of endothelial cell proliferation  (IMP)
positive regulation of ERK1 and ERK2 cascade  (ISO)
positive regulation of fibroblast migration  (ISO)
positive regulation of fibroblast proliferation  (ISO)
positive regulation of gene expression  (ISO)
positive regulation of glomerular mesangial cell proliferation  (ISO)
positive regulation of leukocyte migration  (ISO)
positive regulation of osteoblast proliferation  (ISO)
positive regulation of peptidyl-tyrosine phosphorylation  (IMP)
positive regulation of protein phosphorylation  (TAS)
positive regulation of smooth muscle cell migration  (ISO)
positive regulation of smooth muscle cell proliferation  (ISO)
positive regulation of substrate adhesion-dependent cell spreading  (ISO)
positive regulation of T cell migration  (ISO)
positive regulation of vascular endothelial growth factor receptor signaling pathway  (TAS)
protein phosphopantetheinylation  (IEA)
regulation of actin cytoskeleton organization  (ISO)
regulation of bone resorption  (TAS)
regulation of cell migration  (ISO)
regulation of extracellular matrix organization  (ISO)
regulation of G protein-coupled receptor signaling pathway  (ISO)
regulation of postsynaptic neurotransmitter receptor internalization  (EXP,IDA,IMP)
regulation of protein localization  (ISO,ISS)
regulation of protein tyrosine kinase activity  (ISO)
regulation of release of sequestered calcium ion into cytosol  (ISO)
regulation of serotonin uptake  (ISO,ISS)
response to activity  (ISO)
response to platelet-derived growth factor  (ISO)
response to radiation  (ISO)
smooth muscle cell migration  (IMP)
substrate adhesion-dependent cell spreading  (IDA)
tube development  (TAS)
vascular endothelial growth factor receptor signaling pathway  (TAS)
viral entry into host cell  (IMP)
wound healing  (IC)

References

References - curated
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Additional References at PubMed
PMID:1371279   PMID:1382574   PMID:1429573   PMID:1430225   PMID:1438206   PMID:1549507   PMID:1602006   PMID:1693624   PMID:1693626   PMID:1694173   PMID:1953640   PMID:2001252  
PMID:2010551   PMID:2116421   PMID:2138612   PMID:2145280   PMID:2202737   PMID:2341395   PMID:2345548   PMID:2392682   PMID:2452834   PMID:2454952   PMID:2478219   PMID:2565345  
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PMID:7682219   PMID:7690138   PMID:7694683   PMID:7878622   PMID:8093349   PMID:8132570   PMID:8132607   PMID:8198553   PMID:8244378   PMID:8298129   PMID:8387021   PMID:8400294  
PMID:8467233   PMID:8631894   PMID:8649427   PMID:8663236   PMID:8757599   PMID:8781422   PMID:8798654   PMID:8831898   PMID:8837777   PMID:9030514   PMID:9058485   PMID:9169439  
PMID:9195946   PMID:9215749   PMID:9256940   PMID:9351872   PMID:9376589   PMID:9517988   PMID:9684783   PMID:9686320   PMID:9790984   PMID:9916748   PMID:10022831   PMID:10037797  
PMID:10233432   PMID:10358085   PMID:10391209   PMID:10397733   PMID:10429193   PMID:10438928   PMID:10497223   PMID:10605720   PMID:10640428   PMID:10684262   PMID:10747940   PMID:10749942  
PMID:10822899   PMID:10835423   PMID:10837460   PMID:10848816   PMID:10891446   PMID:10896934   PMID:10964917   PMID:10964931   PMID:10982404   PMID:11028489   PMID:11042121   PMID:11053714  
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PMID:11470407   PMID:11478883   PMID:11533523   PMID:11545752   PMID:11546839   PMID:11568114   PMID:11577104   PMID:11583324   PMID:11588040   PMID:11606749   PMID:11683411   PMID:11686325  
PMID:11704375   PMID:11714857   PMID:11723131   PMID:11739968   PMID:11776310   PMID:11807098   PMID:11812069   PMID:11812775   PMID:11858476   PMID:11858493   PMID:11864709   PMID:11867691  
PMID:11875117   PMID:11877390   PMID:11884718   PMID:11891802   PMID:11897046   PMID:11927607   PMID:11932255   PMID:11934894   PMID:11940607   PMID:11953315   PMID:11959660   PMID:11962738  
PMID:11994301   PMID:12008962   PMID:12031826   PMID:12036875   PMID:12038797   PMID:12049640   PMID:12071877   PMID:12073410   PMID:12082590   PMID:12082592   PMID:12083483   PMID:12140290  
PMID:12152649   PMID:12152651   PMID:12161360   PMID:12168086   PMID:12198771   PMID:12200372   PMID:12204115   PMID:12209993   PMID:12210725   PMID:12218055   PMID:12237112   PMID:12237321  
PMID:12297512   PMID:12353082   PMID:12358597   PMID:12362250   PMID:12364323   PMID:12370491   PMID:12372433   PMID:12372469   PMID:12372811   PMID:12393510   PMID:12399420   PMID:12426312  
PMID:12427871   PMID:12460991   PMID:12477932   PMID:12486108   PMID:12499711   PMID:12511588   PMID:12514663   PMID:12518110   PMID:12535520   PMID:12553378   PMID:12578602   PMID:12586134  
PMID:12606711   PMID:12609844   PMID:12637342   PMID:12639965   PMID:12645863   PMID:12660257   PMID:12665801   PMID:12668663   PMID:12682293   PMID:12690117   PMID:12690916   PMID:12691260  
PMID:12694355   PMID:12695522   PMID:12714203   PMID:12716314   PMID:12719784   PMID:12720308   PMID:12730600   PMID:12736272   PMID:12738509   PMID:12750158   PMID:12765524   PMID:12771130  
PMID:12791034   PMID:12799374   PMID:12807887   PMID:12818249   PMID:12818251   PMID:12826159   PMID:12827240   PMID:12855229   PMID:12871468   PMID:12871600   PMID:12874388   PMID:12899665  
PMID:12902444   PMID:12902636   PMID:12911597   PMID:12932598   PMID:12941045   PMID:12952967   PMID:12957761   PMID:13678940   PMID:14499914   PMID:14517343   PMID:14521607   PMID:14524530  
PMID:14525764   PMID:14557872   PMID:14593208   PMID:14614355   PMID:14629479   PMID:14634961   PMID:14669168   PMID:14675395   PMID:14681217   PMID:14681220   PMID:14690453   PMID:14691438  
PMID:14691579   PMID:14746139   PMID:14963009   PMID:14963283   PMID:14966135   PMID:14987913   PMID:14992889   PMID:15044441   PMID:15045135   PMID:15056669   PMID:15062093   PMID:15067009  
PMID:15076187   PMID:15131115   PMID:15134555   PMID:15147527   PMID:15156152   PMID:15166241   PMID:15166939   PMID:15166947   PMID:15166949   PMID:15178823   PMID:15187087   PMID:15215180  
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Genomics

Candidate Gene Status
ITGB3 is a candidate Gene for QTL BP90_H
Comparative Map Data
ITGB3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1747,253,827 - 47,313,743 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1747,253,846 - 47,311,816 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1747,253,846 - 47,313,735 (+)EnsemblGRCh38hg38GRCh38
GRCh381747,253,827 - 47,313,743 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371745,331,193 - 45,391,109 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361742,686,207 - 42,745,076 (+)NCBINCBI36hg18NCBI36
Build 341742,686,206 - 42,745,076NCBI
Celera1741,781,276 - 41,840,192 (+)NCBI
Cytogenetic Map17q21.32NCBI
HuRef1740,709,287 - 40,768,167 (+)NCBIHuRef
CHM1_11745,396,156 - 45,455,032 (+)NCBICHM1_1
Itgb3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911104,498,826 - 104,561,302 (+)NCBIGRCm39mm39
GRCm39 Ensembl11104,498,826 - 104,561,302 (+)Ensembl
GRCm3811104,608,000 - 104,670,476 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11104,608,000 - 104,670,476 (+)EnsemblGRCm38mm10GRCm38
MGSCv3711104,469,314 - 104,531,787 (+)NCBIGRCm37mm9NCBIm37
MGSCv3611104,424,146 - 104,483,465 (+)NCBImm8
Celera11116,336,310 - 116,392,711 (+)NCBICelera
Cytogenetic Map11E1NCBI
cM Map1167.84NCBI
Itgb3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21089,509,917 - 89,564,679 (+)NCBI
Rnor_6.0 Ensembl1092,667,869 - 92,783,410 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01092,667,869 - 92,783,413 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01092,424,545 - 92,538,859 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1088,202,821 - 88,257,185 (+)NCBICelera
Cytogenetic Map10q32.1NCBI
Itgb3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554789,788,192 - 9,830,254 (-)NCBIChiLan1.0ChiLan1.0
ITGB3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11710,353,111 - 10,388,924 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v01710,134,450 - 10,194,596 (-)NCBIMhudiblu_PPA_v0panPan3
ITGB3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl99,182,562 - 9,231,451 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.199,179,667 - 9,231,061 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Itgb3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365412,822,789 - 2,871,069 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ITGB3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1216,693,505 - 16,752,292 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11216,694,466 - 16,752,228 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21216,718,915 - 16,775,379 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ITGB3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11659,372,171 - 59,431,434 (-)NCBI
Itgb3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248491,895,378 - 1,952,755 (-)NCBI

Position Markers
STS-M35999  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371745,389,284 - 45,389,436UniSTSGRCh37
Build 361742,744,283 - 42,744,435RGDNCBI36
Celera1741,839,399 - 41,839,551RGD
Cytogenetic Map17q21.32UniSTS
HuRef1740,767,374 - 40,767,526UniSTS
GeneMap99-GB4 RH Map17333.1UniSTS
NCBI RH Map17596.6UniSTS
D17S1991  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371745,388,031 - 45,388,355UniSTSGRCh37
Build 361742,743,030 - 42,743,354RGDNCBI36
Celera1741,838,146 - 41,838,470RGD
Cytogenetic Map17q21.32UniSTS
HuRef1740,766,121 - 40,766,445UniSTS
GeneMap99-G3 RH Map172553.0UniSTS
GDB:187323  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371745,365,537 - 45,365,712UniSTSGRCh37
Build 361742,720,536 - 42,720,711RGDNCBI36
Celera1741,815,604 - 41,815,779RGD
Cytogenetic Map17q21.32UniSTS
HuRef1740,743,617 - 40,743,792UniSTS
SHGC-144857  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371745,356,691 - 45,357,023UniSTSGRCh37
Build 361742,711,690 - 42,712,022RGDNCBI36
Celera1741,806,758 - 41,807,090RGD
Cytogenetic Map17q21.32UniSTS
HuRef1740,734,771 - 40,735,103UniSTS
TNG Radiation Hybrid Map1721885.0UniSTS
STS-S70348  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371745,368,636 - 45,368,779UniSTSGRCh37
Build 361742,723,635 - 42,723,778RGDNCBI36
Celera1741,818,703 - 41,818,846RGD
Cytogenetic Map17q21.32UniSTS
HuRef1740,746,720 - 40,746,863UniSTS
GeneMap99-GB4 RH Map17337.7UniSTS
STS-R30939  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371745,388,667 - 45,388,793UniSTSGRCh37
Build 361742,743,666 - 42,743,792RGDNCBI36
Celera1741,838,782 - 41,838,908RGD
Cytogenetic Map17q21.32UniSTS
HuRef1740,766,757 - 40,766,883UniSTS
GeneMap99-GB4 RH Map17332.8UniSTS
NCBI RH Map17599.7UniSTS
STS-AA037229  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371745,368,627 - 45,368,828UniSTSGRCh37
Build 361742,723,626 - 42,723,827RGDNCBI36
Celera1741,818,694 - 41,818,895RGD
Cytogenetic Map17q21.32UniSTS
HuRef1740,746,711 - 40,746,912UniSTS
GeneMap99-GB4 RH Map17332.5UniSTS
RH47114  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371745,389,001 - 45,389,116UniSTSGRCh37
Build 361742,744,000 - 42,744,115RGDNCBI36
Celera1741,839,116 - 41,839,231RGD
Cytogenetic Map17q21.32UniSTS
HuRef1740,767,091 - 40,767,206UniSTS
GeneMap99-GB4 RH Map17333.2UniSTS
NCBI RH Map17589.6UniSTS
G10641  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371745,388,728 - 45,388,946UniSTSGRCh37
Build 361742,743,727 - 42,743,945RGDNCBI36
Celera1741,838,843 - 41,839,061RGD
Cytogenetic Map17q21.32UniSTS
HuRef1740,766,818 - 40,767,036UniSTS
SHGC-35279  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371745,385,043 - 45,385,243UniSTSGRCh37
Build 361742,740,042 - 42,740,242RGDNCBI36
Celera1741,835,112 - 41,835,312RGD
Cytogenetic Map17q21.32UniSTS
HuRef1740,763,133 - 40,763,333UniSTS
GeneMap99-GB4 RH Map17330.8UniSTS
Whitehead-RH Map17361.0UniSTS
NCBI RH Map17593.6UniSTS
GeneMap99-G3 RH Map172553.0UniSTS
D16S325  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map10q11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3q13.32UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map2p13-p12UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map8q21.13UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map1p36.3-p34.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19q13.4UniSTS
D17S660  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371745,331,801 - 45,331,889UniSTSGRCh37
Celera1741,781,869 - 41,781,957UniSTS
Cytogenetic Map17q21.32UniSTS
HuRef1740,709,880 - 40,709,968UniSTS
Itgb3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371745,367,061 - 45,368,458UniSTSGRCh37
GRCh371745,367,615 - 45,368,356UniSTSGRCh37
Celera1741,817,128 - 41,818,525UniSTS
Celera1741,817,682 - 41,818,423UniSTS
HuRef1740,745,695 - 40,746,440UniSTS
HuRef1740,745,141 - 40,746,542UniSTS
Itgb3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371745,367,061 - 45,368,458UniSTSGRCh37
GRCh371745,367,615 - 45,368,356UniSTSGRCh37
Celera1741,817,128 - 41,818,525UniSTS
Celera1741,817,682 - 41,818,423UniSTS
HuRef1740,745,695 - 40,746,440UniSTS
HuRef1740,745,141 - 40,746,542UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR98hsa-miR-98-5pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248
MIRLET7A2hsa-let-7a-5pOncomiRDBexternal_infoNANA18679415
MIRLET7A2hsa-let-7a-5pMirtarbaseexternal_infoqRT-PCR//Luciferase reporter assay//Western blotFunctional MTI18679415
MIRLET7A1hsa-let-7a-5pMirtarbaseexternal_infoqRT-PCR//Luciferase reporter assay//Western blotFunctional MTI18679415
MIRLET7A1hsa-let-7a-5pOncomiRDBexternal_infoNANA18679415

Predicted Target Of
Summary Value
Count of predictions:1347
Count of miRNA genes:761
Interacting mature miRNAs:865
Transcripts:ENST00000435993, ENST00000559488, ENST00000571680, ENST00000573377
Prediction methods:Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 1
Medium 1314 1489 714 21 371 16 1505 685 352 126 277 923 6 534 1008 1
Low 996 1444 757 466 1332 313 2462 1270 1372 261 1066 561 158 670 1588 1
Below cutoff 55 49 245 131 167 130 356 231 1973 29 88 86 5 192 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC068234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY706100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY826979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC127666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC127667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE389074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE893993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG170864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ437000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ454156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU015082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ202730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ202731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ202732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ202733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ202734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ202735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ288893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ288894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J02703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC120777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC120778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC155823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC155824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC255388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ189224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L28832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LR596612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M20311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M25108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M35999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN624129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S49379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S70348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U03881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U95204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000559488   ⟹   ENSP00000452786
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1747,253,827 - 47,313,743 (+)Ensembl
RefSeq Acc Id: ENST00000571680   ⟹   ENSP00000461626
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1747,253,853 - 47,291,487 (+)Ensembl
RefSeq Acc Id: ENST00000573377   ⟹   ENSP00000465586
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1747,291,053 - 47,292,171 (+)Ensembl
RefSeq Acc Id: NM_000212   ⟹   NP_000203
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381747,253,827 - 47,313,743 (+)NCBI
GRCh371745,331,208 - 45,390,077 (+)ENTREZGENE
Build 361742,686,207 - 42,745,076 (+)NCBI Archive
HuRef1740,709,287 - 40,768,167 (+)ENTREZGENE
CHM1_11745,396,156 - 45,455,032 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000203 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA16076 (Get FASTA)   NCBI Sequence Viewer  
  AAA20880 (Get FASTA)   NCBI Sequence Viewer  
  AAA35927 (Get FASTA)   NCBI Sequence Viewer  
  AAA36121 (Get FASTA)   NCBI Sequence Viewer  
  AAA52589 (Get FASTA)   NCBI Sequence Viewer  
  AAA52600 (Get FASTA)   NCBI Sequence Viewer  
  AAA60122 (Get FASTA)   NCBI Sequence Viewer  
  AAB23689 (Get FASTA)   NCBI Sequence Viewer  
  AAB30847 (Get FASTA)   NCBI Sequence Viewer  
  AAB71380 (Get FASTA)   NCBI Sequence Viewer  
  AAI27667 (Get FASTA)   NCBI Sequence Viewer  
  AAI27668 (Get FASTA)   NCBI Sequence Viewer  
  AAV29938 (Get FASTA)   NCBI Sequence Viewer  
  AAX33645 (Get FASTA)   NCBI Sequence Viewer  
  ABE67092 (Get FASTA)   NCBI Sequence Viewer  
  ABS86940 (Get FASTA)   NCBI Sequence Viewer  
  ADZ28534 (Get FASTA)   NCBI Sequence Viewer  
  ADZ28535 (Get FASTA)   NCBI Sequence Viewer  
  ADZ28536 (Get FASTA)   NCBI Sequence Viewer  
  ADZ28537 (Get FASTA)   NCBI Sequence Viewer  
  ADZ28538 (Get FASTA)   NCBI Sequence Viewer  
  ADZ28539 (Get FASTA)   NCBI Sequence Viewer  
  ADZ76019 (Get FASTA)   NCBI Sequence Viewer  
  ADZ76020 (Get FASTA)   NCBI Sequence Viewer  
  AGC54783 (Get FASTA)   NCBI Sequence Viewer  
  AGC54784 (Get FASTA)   NCBI Sequence Viewer  
  AGC82918 (Get FASTA)   NCBI Sequence Viewer  
  AGC82919 (Get FASTA)   NCBI Sequence Viewer  
  AGG40669 (Get FASTA)   NCBI Sequence Viewer  
  AHV90406 (Get FASTA)   NCBI Sequence Viewer  
  EAW57679 (Get FASTA)   NCBI Sequence Viewer  
  EAW57680 (Get FASTA)   NCBI Sequence Viewer  
  EAW57681 (Get FASTA)   NCBI Sequence Viewer  
  EAW57682 (Get FASTA)   NCBI Sequence Viewer  
  P05106 (Get FASTA)   NCBI Sequence Viewer  
  QHD40503 (Get FASTA)   NCBI Sequence Viewer  
  VUE35968 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000203   ⟸   NM_000212
- Peptide Label: precursor
- UniProtKB: P05106 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000452786   ⟸   ENST00000559488
RefSeq Acc Id: ENSP00000461626   ⟸   ENST00000571680
RefSeq Acc Id: ENSP00000465586   ⟸   ENST00000573377
Protein Domains
EGF_2   I-EGF_1   INB   Integrin_b_cyt   Integrin_B_tail   PSI   VWFA

Promoters
RGD ID:6794229
Promoter ID:HG_KWN:26444
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:NM_000212,   UC002ILI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361742,686,061 - 42,686,561 (+)MPROMDB
RGD ID:7235395
Promoter ID:EPDNEW_H23443
Type:initiation region
Name:ITGB3_1
Description:integrin subunit beta 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23444  EPDNEW_H23445  EPDNEW_H23446  EPDNEW_H23447  EPDNEW_H23448  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381747,253,827 - 47,253,887EPDNEW
RGD ID:7235397
Promoter ID:EPDNEW_H23444
Type:initiation region
Name:ITGB3_4
Description:integrin subunit beta 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23443  EPDNEW_H23445  EPDNEW_H23446  EPDNEW_H23447  EPDNEW_H23448  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381747,274,440 - 47,274,500EPDNEW
RGD ID:7235399
Promoter ID:EPDNEW_H23445
Type:multiple initiation site
Name:ITGB3_6
Description:integrin subunit beta 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23443  EPDNEW_H23444  EPDNEW_H23446  EPDNEW_H23447  EPDNEW_H23448  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381747,287,035 - 47,287,095EPDNEW
RGD ID:7235401
Promoter ID:EPDNEW_H23446
Type:initiation region
Name:ITGB3_2
Description:integrin subunit beta 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23443  EPDNEW_H23444  EPDNEW_H23445  EPDNEW_H23447  EPDNEW_H23448  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381747,299,266 - 47,299,326EPDNEW
RGD ID:7235403
Promoter ID:EPDNEW_H23447
Type:multiple initiation site
Name:ITGB3_3
Description:integrin subunit beta 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23443  EPDNEW_H23444  EPDNEW_H23445  EPDNEW_H23446  EPDNEW_H23448  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381747,301,414 - 47,301,474EPDNEW
RGD ID:7235405
Promoter ID:EPDNEW_H23448
Type:initiation region
Name:ITGB3_5
Description:integrin subunit beta 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23443  EPDNEW_H23444  EPDNEW_H23445  EPDNEW_H23446  EPDNEW_H23447  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381747,311,341 - 47,311,401EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2
pathogenic
ITGB3, IVSiDS, G-T, EXiDEL deletion Glanzmann thrombasthenia [RCV000014527] Chr17:17q21.32 pathogenic
ITGB3, 11.2-KB DEL deletion Glanzmann thrombasthenia [RCV000014531] Chr17:17q21.32 pathogenic
ITGB3, 11-BP DEL, EX12 deletion Glanzmann thrombasthenia [RCV000014534] Chr17:17q21.32 pathogenic
NM_000212.2(ITGB3):c.1373A>G (p.Asp458Gly) single nucleotide variant Fetal and neonatal alloimmune thrombocytopenia [RCV000515766] Chr17:47292251 [GRCh38]
Chr17:45369617 [GRCh37]
Chr17:17q21.32
likely pathogenic|association
NM_000212.2(ITGB3):c.719G>A (p.Arg240Gln) single nucleotide variant Glanzmann thrombasthenia [RCV000014512] Chr17:47286364 [GRCh38]
Chr17:45363730 [GRCh37]
Chr17:17q21.32
pathogenic
NM_000212.2(ITGB3):c.433G>T (p.Asp145Tyr) single nucleotide variant Glanzmann thrombasthenia [RCV000014513] Chr17:47284514 [GRCh38]
Chr17:45361880 [GRCh37]
Chr17:17q21.32
pathogenic|likely pathogenic
NM_000212.2(ITGB3):c.718C>T (p.Arg240Trp) single nucleotide variant Glanzmann thrombasthenia [RCV000014514] Chr17:47286363 [GRCh38]
Chr17:45363729 [GRCh37]
Chr17:17q21.32
pathogenic
NM_000212.2(ITGB3):c.2332T>C (p.Ser778Pro) single nucleotide variant Glanzmann thrombasthenia [RCV000014515] Chr17:47310169 [GRCh38]
Chr17:45387535 [GRCh37]
Chr17:17q21.32
pathogenic
NM_000212.2(ITGB3):c.506G>A (p.Arg169Gln) single nucleotide variant Glanzmann thrombasthenia [RCV001124484]|PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM [RCV000014516]|not provided [RCV000861957] Chr17:47284587 [GRCh38]
Chr17:45361953 [GRCh37]
Chr17:17q21.32
pathogenic|benign
NM_000212.2(ITGB3):c.176T>C (p.Leu59Pro) single nucleotide variant Glanzmann thrombasthenia [RCV000383813]|Myocardial infarction [RCV000014522]|PL(A1)/(A2) ALLOANTIGEN POLYMORPHISM [RCV000014519]|not specified [RCV000246922] Chr17:47283364 [GRCh38]
Chr17:45360730 [GRCh37]
Chr17:17q21.32
pathogenic|risk factor|benign|likely benign
NM_000212.2(ITGB3):c.1297C>G (p.Pro433Ala) single nucleotide variant Mo ALLOANTIGEN POLYMORPHISM [RCV000014525] Chr17:47292175 [GRCh38]
Chr17:45369541 [GRCh37]
Chr17:17q21.32
pathogenic|benign
NM_000212.2(ITGB3):c.1544G>A (p.Arg515Gln) single nucleotide variant Ca/Tu ALLOANTIGEN POLYMORPHISM [RCV000014528]|Glanzmann thrombasthenia [RCV001127592]|not provided [RCV000862496] Chr17:47292422 [GRCh38]
Chr17:45369788 [GRCh37]
Chr17:17q21.32
pathogenic|benign|uncertain significance
NM_000212.2(ITGB3):c.1199G>A (p.Cys400Tyr) single nucleotide variant Glanzmann thrombasthenia [RCV000014530] Chr17:47291027 [GRCh38]
Chr17:45368393 [GRCh37]
Chr17:17q21.32
pathogenic
NM_000212.2(ITGB3):c.2248C>T (p.Arg750Ter) single nucleotide variant Glanzmann thrombasthenia [RCV000014532] Chr17:47307584 [GRCh38]
Chr17:45384950 [GRCh37]
Chr17:17q21.32
pathogenic|likely pathogenic
NM_000212.2(ITGB3):c.1924G>T (p.Glu642Ter) single nucleotide variant Glanzmann thrombasthenia [RCV000014533] Chr17:47300488 [GRCh38]
Chr17:45377854 [GRCh37]
Chr17:17q21.32
pathogenic
NM_000212.2(ITGB3):c.428T>G (p.Leu143Trp) single nucleotide variant Glanzmann thrombasthenia [RCV000014535] Chr17:47284509 [GRCh38]
Chr17:45361875 [GRCh37]
Chr17:17q21.32
pathogenic
NM_000212.2(ITGB3):c.836A>T (p.Lys279Met) single nucleotide variant Glanzmann thrombasthenia [RCV000014536] Chr17:47287128 [GRCh38]
Chr17:45364494 [GRCh37]
Chr17:17q21.32
pathogenic
NM_000212.2(ITGB3):c.740G>A (p.Gly247Asp) single nucleotide variant Glanzmann thrombasthenia [RCV000014537] Chr17:47286385 [GRCh38]
Chr17:45363751 [GRCh37]
Chr17:17q21.32
pathogenic
NM_000212.2(ITGB3):c.2245G>C (p.Asp749His) single nucleotide variant Platelet-type bleeding disorder 16 [RCV000043480] Chr17:47307581 [GRCh38]
Chr17:45384947 [GRCh37]
Chr17:17q21.32
pathogenic
NM_000212.2(ITGB3):c.2134+1G>C single nucleotide variant Platelet-type bleeding disorder 16 [RCV000043481] Chr17:47302841 [GRCh38]
Chr17:45380207 [GRCh37]
Chr17:17q21.32
pathogenic
NM_000212.2(ITGB3):c.2231T>C (p.Leu744Pro) single nucleotide variant Platelet-type bleeding disorder 16 [RCV000043482] Chr17:47307567 [GRCh38]
Chr17:45384933 [GRCh37]
Chr17:17q21.32
pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
GRCh38/hg38 17q21.31-21.33(chr17:44955325-49381173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052480]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052480]|See cases [RCV000052480] Chr17:44955325..49381173 [GRCh38]
Chr17:43032693..47458535 [GRCh37]
Chr17:40388219..44813534 [NCBI36]
Chr17:17q21.31-21.33
pathogenic
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1
pathogenic
chr17:45008570..45994044 complex variant complex Ductal breast carcinoma [RCV000207217] Chr17:45008570..45994044 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.40G>A (p.Val14Met) single nucleotide variant Glanzmann thrombasthenia [RCV000364007]|not provided [RCV000224944] Chr17:47253901 [GRCh38]
Chr17:45331267 [GRCh37]
Chr17:17q21.32
benign|likely benign
NM_000212.2(ITGB3):c.1545G>A (p.Arg515=) single nucleotide variant Glanzmann thrombasthenia [RCV000394843]|not specified [RCV000241947] Chr17:47292423 [GRCh38]
Chr17:45369789 [GRCh37]
Chr17:17q21.32
benign
NM_000212.2(ITGB3):c.2301+9C>T single nucleotide variant Glanzmann thrombasthenia [RCV000328155]|not specified [RCV000242227] Chr17:47307646 [GRCh38]
Chr17:45385012 [GRCh37]
Chr17:17q21.32
benign
NM_000212.2(ITGB3):c.342T>C (p.Ile114=) single nucleotide variant Glanzmann thrombasthenia [RCV000294139]|not provided [RCV000861532]|not specified [RCV000247222] Chr17:47283530 [GRCh38]
Chr17:45360896 [GRCh37]
Chr17:17q21.32
benign|likely benign
NM_000212.2(ITGB3):c.882T>C (p.Pro294=) single nucleotide variant Glanzmann thrombasthenia [RCV000389557]|not specified [RCV000252166] Chr17:47287174 [GRCh38]
Chr17:45364540 [GRCh37]
Chr17:17q21.32
benign
NM_000212.2(ITGB3):c.1143A>C (p.Val381=) single nucleotide variant Glanzmann thrombasthenia [RCV000336334]|not provided [RCV000826426]|not specified [RCV000245014] Chr17:47290971 [GRCh38]
Chr17:45368337 [GRCh37]
Chr17:17q21.32
benign
NM_000212.2(ITGB3):c.1533A>G (p.Glu511=) single nucleotide variant Glanzmann thrombasthenia [RCV000337655]|not specified [RCV000249975] Chr17:47292411 [GRCh38]
Chr17:45369777 [GRCh37]
Chr17:17q21.32
benign
NM_000212.2(ITGB3):c.1914-19T>C single nucleotide variant not specified [RCV000250257] Chr17:47300459 [GRCh38]
Chr17:45377825 [GRCh37]
Chr17:17q21.32
benign
NM_000212.2(ITGB3):c.-7G>C single nucleotide variant Glanzmann thrombasthenia [RCV000323268]|not specified [RCV000253013] Chr17:47253855 [GRCh38]
Chr17:45331221 [GRCh37]
Chr17:17q21.32
benign|likely benign
NM_000212.2(ITGB3):c.*1154G>A single nucleotide variant Glanzmann thrombasthenia [RCV000275727] Chr17:47311358 [GRCh38]
Chr17:45388724 [GRCh37]
Chr17:17q21.32
likely benign|uncertain significance
NM_000212.2(ITGB3):c.985A>G (p.Asn329Asp) single nucleotide variant Glanzmann thrombasthenia [RCV000295402] Chr17:47289726 [GRCh38]
Chr17:45367092 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.*1714T>C single nucleotide variant Glanzmann thrombasthenia [RCV000264275] Chr17:47311918 [GRCh38]
Chr17:45389284 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.*517C>T single nucleotide variant Glanzmann thrombasthenia [RCV000281181] Chr17:47310721 [GRCh38]
Chr17:45388087 [GRCh37]
Chr17:17q21.32
benign|uncertain significance
NM_000212.2(ITGB3):c.57G>T (p.Ala19=) single nucleotide variant Glanzmann thrombasthenia [RCV000269300]|not provided [RCV000882901] Chr17:47253918 [GRCh38]
Chr17:45331284 [GRCh37]
Chr17:17q21.32
benign|likely benign
NM_000212.2(ITGB3):c.*1960G>A single nucleotide variant Glanzmann thrombasthenia [RCV000344235] Chr17:47312164 [GRCh38]
Chr17:45389530 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.2208C>T (p.Ala736=) single nucleotide variant Glanzmann thrombasthenia [RCV000273271]|not provided [RCV000860925] Chr17:47307544 [GRCh38]
Chr17:45384910 [GRCh37]
Chr17:17q21.32
benign|likely benign
NM_000212.2(ITGB3):c.*713A>G single nucleotide variant Glanzmann thrombasthenia [RCV000310133] Chr17:47310917 [GRCh38]
Chr17:45388283 [GRCh37]
Chr17:17q21.32
benign|likely benign
NM_000212.2(ITGB3):c.*12C>T single nucleotide variant Glanzmann thrombasthenia [RCV000274287] Chr17:47310216 [GRCh38]
Chr17:45387582 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.*919C>T single nucleotide variant Glanzmann thrombasthenia [RCV000311001] Chr17:47311123 [GRCh38]
Chr17:45388489 [GRCh37]
Chr17:17q21.32
likely benign
NM_000212.2(ITGB3):c.2131C>T (p.Pro711Ser) single nucleotide variant Glanzmann thrombasthenia [RCV000363147] Chr17:47302837 [GRCh38]
Chr17:45380203 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.1309_1311del (p.Glu437del) deletion Glanzmann thrombasthenia [RCV000282576] Chr17:47292185..47292187 [GRCh38]
Chr17:45369551..45369553 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.*439C>G single nucleotide variant Glanzmann thrombasthenia [RCV000261055] Chr17:47310643 [GRCh38]
Chr17:45388009 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.2328C>T (p.Ala776=) single nucleotide variant Glanzmann thrombasthenia [RCV000368829] Chr17:47310165 [GRCh38]
Chr17:45387531 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.*1016T>A single nucleotide variant Glanzmann thrombasthenia [RCV000370303] Chr17:47311220 [GRCh38]
Chr17:45388586 [GRCh37]
Chr17:17q21.32
benign
NM_000212.2(ITGB3):c.*2327G>A single nucleotide variant Glanzmann thrombasthenia [RCV000350219] Chr17:47312531 [GRCh38]
Chr17:45389897 [GRCh37]
Chr17:17q21.32
benign|likely benign
NM_000212.2(ITGB3):c.*480T>C single nucleotide variant Glanzmann thrombasthenia [RCV000375461] Chr17:47310684 [GRCh38]
Chr17:45388050 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.58C>T (p.Leu20=) single nucleotide variant Glanzmann thrombasthenia [RCV000329008]|not provided [RCV000882902] Chr17:47253919 [GRCh38]
Chr17:45331285 [GRCh37]
Chr17:17q21.32
benign|likely benign
NM_000212.2(ITGB3):c.*1542C>T single nucleotide variant Glanzmann thrombasthenia [RCV000377543] Chr17:47311746 [GRCh38]
Chr17:45389112 [GRCh37]
Chr17:17q21.32
likely benign
NM_000212.2(ITGB3):c.2085C>T (p.Tyr695=) single nucleotide variant Glanzmann thrombasthenia [RCV000308557] Chr17:47302791 [GRCh38]
Chr17:45380157 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.537C>T (p.Phe179=) single nucleotide variant Glanzmann thrombasthenia [RCV000330332]|not provided [RCV000864149] Chr17:47284618 [GRCh38]
Chr17:45361984 [GRCh37]
Chr17:17q21.32
likely benign|uncertain significance
NM_000212.2(ITGB3):c.*639G>A single nucleotide variant Glanzmann thrombasthenia [RCV000376795] Chr17:47310843 [GRCh38]
Chr17:45388209 [GRCh37]
Chr17:17q21.32
benign|likely benign
NM_000212.2(ITGB3):c.1299C>T (p.Pro433=) single nucleotide variant Glanzmann thrombasthenia [RCV000402523]|not provided [RCV000862107] Chr17:47292177 [GRCh38]
Chr17:45369543 [GRCh37]
Chr17:17q21.32
likely benign|uncertain significance
NM_000212.2(ITGB3):c.*671C>T single nucleotide variant Glanzmann thrombasthenia [RCV000287057] Chr17:47310875 [GRCh38]
Chr17:45388241 [GRCh37]
Chr17:17q21.32
benign|likely benign
NM_000212.2(ITGB3):c.*1817T>A single nucleotide variant Glanzmann thrombasthenia [RCV000378750] Chr17:47312021 [GRCh38]
Chr17:45389387 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.1985G>A (p.Arg662His) single nucleotide variant Glanzmann thrombasthenia [RCV000394836] Chr17:47300549 [GRCh38]
Chr17:45377915 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.*1985T>C single nucleotide variant Glanzmann thrombasthenia [RCV000384745] Chr17:47312189 [GRCh38]
Chr17:45389555 [GRCh37]
Chr17:17q21.32
benign|uncertain significance
NM_000212.2(ITGB3):c.*808_*810delAAG microsatellite Glanzmann thrombasthenia [RCV000399041] Chr17:47311007..47311009 [GRCh38]
Chr17:45388373..45388375 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.*460A>G single nucleotide variant Glanzmann thrombasthenia [RCV000316231] Chr17:47310664 [GRCh38]
Chr17:45388030 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.1902C>T (p.Cys634=) single nucleotide variant Glanzmann thrombasthenia [RCV000360979] Chr17:47299519 [GRCh38]
Chr17:45376885 [GRCh37]
Chr17:17q21.32
benign|likely benign|uncertain significance
NM_000212.2(ITGB3):c.*1479T>C single nucleotide variant Glanzmann thrombasthenia [RCV000263313] Chr17:47311683 [GRCh38]
Chr17:45389049 [GRCh37]
Chr17:17q21.32
benign|likely benign
NM_000212.2(ITGB3):c.1558G>A (p.Val520Ile) single nucleotide variant Glanzmann thrombasthenia [RCV000301602] Chr17:47292436 [GRCh38]
Chr17:45369802 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.*271C>G single nucleotide variant Glanzmann thrombasthenia [RCV000388343] Chr17:47310475 [GRCh38]
Chr17:45387841 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.*2455A>C single nucleotide variant Glanzmann thrombasthenia [RCV000405279] Chr17:47312659 [GRCh38]
Chr17:45390025 [GRCh37]
Chr17:17q21.32
benign|likely benign
NM_000212.2(ITGB3):c.*1527A>G single nucleotide variant Glanzmann thrombasthenia [RCV000318423] Chr17:47311731 [GRCh38]
Chr17:45389097 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.*1331A>G single nucleotide variant Glanzmann thrombasthenia [RCV000353439] Chr17:47311535 [GRCh38]
Chr17:45388901 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.1960G>A (p.Glu654Lys) single nucleotide variant Glanzmann thrombasthenia [RCV001123488]|Platelet-type bleeding disorder 16 [RCV000490340]|not provided [RCV000865543] Chr17:47300524 [GRCh38]
Chr17:45377890 [GRCh37]
Chr17:17q21.32
benign|likely benign|uncertain significance
NM_000212.2(ITGB3):c.*674G>T single nucleotide variant Glanzmann thrombasthenia [RCV000345080] Chr17:47310878 [GRCh38]
Chr17:45388244 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.*699C>T single nucleotide variant Glanzmann thrombasthenia [RCV000399019] Chr17:47310903 [GRCh38]
Chr17:45388269 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.*758C>G single nucleotide variant Glanzmann thrombasthenia [RCV000346309] Chr17:47310962 [GRCh38]
Chr17:45388328 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.*126G>C single nucleotide variant Glanzmann thrombasthenia [RCV000334108] Chr17:47310330 [GRCh38]
Chr17:45387696 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.*1236_*1240delATTTT microsatellite Glanzmann thrombasthenia [RCV000298517] Chr17:47311430..47311434 [GRCh38]
Chr17:45388796..45388800 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.*1804A>G single nucleotide variant Glanzmann thrombasthenia [RCV000324155] Chr17:47312008 [GRCh38]
Chr17:45389374 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.*553_*555del deletion Glanzmann thrombasthenia [RCV000340893] Chr17:47310757..47310759 [GRCh38]
Chr17:45388123..45388125 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.*1932C>G single nucleotide variant Glanzmann thrombasthenia [RCV000289280] Chr17:47312136 [GRCh38]
Chr17:45389502 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.*2030C>A single nucleotide variant Glanzmann thrombasthenia [RCV000290414] Chr17:47312234 [GRCh38]
Chr17:45389600 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.62C>T (p.Ala21Val) single nucleotide variant not provided [RCV000523191] Chr17:47253923 [GRCh38]
Chr17:45331289 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.1699C>T (p.Gln567Ter) single nucleotide variant Abnormal bleeding [RCV000414924]|Platelet-type bleeding disorder 16 [RCV001197459] Chr17:47299316 [GRCh38]
Chr17:45376682 [GRCh37]
Chr17:17q21.32
likely pathogenic
NM_000212.2(ITGB3):c.749A>G (p.Asp250Gly) single nucleotide variant Abnormal bleeding [RCV000415046]|Platelet-type bleeding disorder 16 [RCV001197460] Chr17:47286394 [GRCh38]
Chr17:45363760 [GRCh37]
Chr17:17q21.32
likely pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3
pathogenic
NM_000212.2(ITGB3):c.201G>A (p.Lys67=) single nucleotide variant Glanzmann thrombasthenia [RCV001123377]|not specified [RCV000499408] Chr17:47283389 [GRCh38]
Chr17:45360755 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.1976G>C (p.Arg659Pro) single nucleotide variant not specified [RCV000502969] Chr17:47300540 [GRCh38]
Chr17:45377906 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.900T>C (p.His300=) single nucleotide variant Glanzmann thrombasthenia [RCV001124488]|not provided [RCV000862369]|not specified [RCV000500857] Chr17:47287192 [GRCh38]
Chr17:45364558 [GRCh37]
Chr17:17q21.32
likely benign|uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_000212.2(ITGB3):c.2221T>C (p.Trp741Arg) single nucleotide variant not provided [RCV000513182] Chr17:47307557 [GRCh38]
Chr17:45384923 [GRCh37]
Chr17:17q21.32
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q21.32(chr17:45307927-45447839)x1 copy number loss not provided [RCV000683939] Chr17:45307927..45447839 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.761A>G (p.Gln254Arg) single nucleotide variant Glanzmann thrombasthenia [RCV000851871] Chr17:47286406 [GRCh38]
Chr17:45363772 [GRCh37]
Chr17:17q21.32
likely pathogenic
NM_000212.2(ITGB3):c.1409dup (p.Asn470fs) duplication Glanzmann thrombasthenia [RCV000852023] Chr17:47292285..47292286 [GRCh38]
Chr17:45369651..45369652 [GRCh37]
Chr17:17q21.32
pathogenic
NM_000212.2(ITGB3):c.2227_2229CTC[1] (p.Leu744del) microsatellite Thrombocytopenia [RCV000852078] Chr17:47307563..47307565 [GRCh38]
Chr17:45384929..45384931 [GRCh37]
Chr17:17q21.32
likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_000212.3(ITGB3):c.2196C>T (p.Leu732=) single nucleotide variant Glanzmann thrombasthenia [RCV001123490]|not provided [RCV000862264] Chr17:47307532 [GRCh38]
Chr17:45384898 [GRCh37]
Chr17:17q21.32
likely benign|uncertain significance
NM_000212.3(ITGB3):c.325del (p.Val109fs) deletion Glanzmann thrombasthenia [RCV000761244] Chr17:47283513 [GRCh38]
Chr17:45360879 [GRCh37]
Chr17:17q21.32
likely pathogenic
NM_000212.2(ITGB3):c.778-2A>G single nucleotide variant Glanzmann thrombasthenia [RCV000761245] Chr17:47287068 [GRCh38]
Chr17:45364434 [GRCh37]
Chr17:17q21.32
likely pathogenic
NM_000212.3(ITGB3):c.355C>T (p.Arg119Trp) single nucleotide variant Glanzmann thrombasthenia [RCV001003532] Chr17:47283543 [GRCh38]
Chr17:45360909 [GRCh37]
Chr17:17q21.32
likely pathogenic
NM_000212.3(ITGB3):c.565C>T (p.Pro189Ser) single nucleotide variant Glanzmann thrombasthenia [RCV001003533] Chr17:47284646 [GRCh38]
Chr17:45362012 [GRCh37]
Chr17:17q21.32
pathogenic|likely pathogenic
NM_000212.3(ITGB3):c.165+8G>A single nucleotide variant not provided [RCV000929331] Chr17:47274512 [GRCh38]
Chr17:45351878 [GRCh37]
Chr17:17q21.32
likely benign
NM_000212.3(ITGB3):c.414G>C (p.Val138=) single nucleotide variant not provided [RCV000869775] Chr17:47284495 [GRCh38]
Chr17:45361861 [GRCh37]
Chr17:17q21.32
likely benign
NM_000212.3(ITGB3):c.273G>A (p.Glu91=) single nucleotide variant not provided [RCV000928927] Chr17:47283461 [GRCh38]
Chr17:45360827 [GRCh37]
Chr17:17q21.32
likely benign
NM_000212.3(ITGB3):c.1764G>C (p.Thr588=) single nucleotide variant not provided [RCV000937778] Chr17:47299381 [GRCh38]
Chr17:45376747 [GRCh37]
Chr17:17q21.32
likely benign
NM_000212.2(ITGB3):c.433G>A (p.Asp145Asn) single nucleotide variant Glanzmann thrombasthenia [RCV000851787] Chr17:47284514 [GRCh38]
Chr17:45361880 [GRCh37]
Chr17:17q21.32
pathogenic|likely pathogenic
NM_000212.2(ITGB3):c.187C>T (p.Arg63Cys) single nucleotide variant Glanzmann thrombasthenia [RCV000778500] Chr17:47283375 [GRCh38]
Chr17:45360741 [GRCh37]
Chr17:17q21.32
likely pathogenic|uncertain significance
NM_000212.2(ITGB3):c.362-1G>A single nucleotide variant Glanzmann thrombasthenia [RCV000778501] Chr17:47284442 [GRCh38]
Chr17:45361808 [GRCh37]
Chr17:17q21.32
likely pathogenic|uncertain significance
NM_000212.3(ITGB3):c.197T>G (p.Leu66Arg) single nucleotide variant Abnormal bleeding [RCV001270572]|Glanzmann thrombasthenia [RCV001123376]|not provided [RCV000860861] Chr17:47283385 [GRCh38]
Chr17:45360751 [GRCh37]
Chr17:17q21.32
likely benign|uncertain significance
NM_000212.3(ITGB3):c.970A>G (p.Lys324Glu) single nucleotide variant not provided [RCV000861656] Chr17:47289711 [GRCh38]
Chr17:45367077 [GRCh37]
Chr17:17q21.32
likely benign
NM_000212.3(ITGB3):c.1641C>T (p.Cys547=) single nucleotide variant not provided [RCV000863394] Chr17:47292519 [GRCh38]
Chr17:45369885 [GRCh37]
Chr17:17q21.32
benign
NM_000212.3(ITGB3):c.2175A>G (p.Ser725=) single nucleotide variant not provided [RCV000869146] Chr17:47307511 [GRCh38]
Chr17:45384877 [GRCh37]
Chr17:17q21.32
likely benign
NM_000212.3(ITGB3):c.1557C>T (p.Pro519=) single nucleotide variant not provided [RCV000869151] Chr17:47292435 [GRCh38]
Chr17:45369801 [GRCh37]
Chr17:17q21.32
likely benign
NM_000212.3(ITGB3):c.1800G>A (p.Leu600=) single nucleotide variant Glanzmann thrombasthenia [RCV001127594]|not provided [RCV000861118] Chr17:47299417 [GRCh38]
Chr17:45376783 [GRCh37]
Chr17:17q21.32
benign|uncertain significance
NM_000212.3(ITGB3):c.285C>T (p.Leu95=) single nucleotide variant Glanzmann thrombasthenia [RCV001123379]|not provided [RCV000862487] Chr17:47283473 [GRCh38]
Chr17:45360839 [GRCh37]
Chr17:17q21.32
likely benign|uncertain significance
NM_000212.2(ITGB3):c.2128G>A (p.Glu710Lys) single nucleotide variant Abnormal bleeding [RCV000852067] Chr17:47302834 [GRCh38]
Chr17:45380200 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.263G>A (p.Arg88Gln) single nucleotide variant Glanzmann thrombasthenia [RCV000852096] Chr17:47283451 [GRCh38]
Chr17:45360817 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.856G>C (p.Gly286Arg) single nucleotide variant Abnormal bleeding [RCV000851903] Chr17:47287148 [GRCh38]
Chr17:45364514 [GRCh37]
Chr17:17q21.32
likely pathogenic
NM_000212.2(ITGB3):c.55dup (p.Ala19fs) duplication Glanzmann thrombasthenia [RCV000851823] Chr17:47253911..47253912 [GRCh38]
Chr17:45331277..45331278 [GRCh37]
Chr17:17q21.32
likely pathogenic
NM_000212.3(ITGB3):c.1640G>A (p.Cys547Tyr) single nucleotide variant not provided [RCV001055159] Chr17:47292518 [GRCh38]
Chr17:45369884 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.3(ITGB3):c.727G>C (p.Asp243His) single nucleotide variant Glanzmann thrombasthenia [RCV000985156] Chr17:47286372 [GRCh38]
Chr17:45363738 [GRCh37]
Chr17:17q21.32
likely pathogenic
NM_000212.3(ITGB3):c.754A>G (p.Ile252Val) single nucleotide variant Glanzmann thrombasthenia [RCV001124486]|not provided [RCV000861463] Chr17:47286399 [GRCh38]
Chr17:45363765 [GRCh37]
Chr17:17q21.32
benign|uncertain significance
NM_000212.3(ITGB3):c.1089C>T (p.Ser363=) single nucleotide variant not provided [RCV000914294] Chr17:47290238 [GRCh38]
Chr17:45367604 [GRCh37]
Chr17:17q21.32
likely benign
NM_000212.2(ITGB3):c.1366A>C (p.Thr456Pro) single nucleotide variant Glanzmann thrombasthenia [RCV000851688] Chr17:47292244 [GRCh38]
Chr17:45369610 [GRCh37]
Chr17:17q21.32
likely pathogenic|uncertain significance
NM_000212.3(ITGB3):c.777+1G>A single nucleotide variant not provided [RCV001055160] Chr17:47286423 [GRCh38]
Chr17:45363789 [GRCh37]
Chr17:17q21.32
pathogenic
NM_000212.2(ITGB3):c.1807G>A (p.Gly603Ser) single nucleotide variant Glanzmann thrombasthenia [RCV001127595]|Macrothrombocytopenia [RCV000852056] Chr17:47299424 [GRCh38]
Chr17:45376790 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.3(ITGB3):c.362-30G>A single nucleotide variant Glanzmann thrombasthenia [RCV001225243] Chr17:47284413 [GRCh38]
Chr17:45361779 [GRCh37]
Chr17:17q21.32
benign
NM_000212.3(ITGB3):c.1458C>G (p.Cys486Trp) single nucleotide variant Glanzmann thrombasthenia [RCV001225244] Chr17:47292336 [GRCh38]
Chr17:45369702 [GRCh37]
Chr17:17q21.32
likely pathogenic
NM_000212.2(ITGB3):c.2015-29_2134+24del deletion Macrothrombocytopenia [RCV000852270] Chr17:47302692..47302864 [GRCh38]
Chr17:45380058..45380230 [GRCh37]
Chr17:17q21.32
likely pathogenic
NM_000212.3(ITGB3):c.953T>C (p.Leu318Ser) single nucleotide variant Glanzmann thrombasthenia [RCV001225261] Chr17:47289694 [GRCh38]
Chr17:45367060 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.3(ITGB3):c.1913+5G>T single nucleotide variant Glanzmann thrombasthenia [RCV001225277] Chr17:47299535 [GRCh38]
Chr17:45376901 [GRCh37]
Chr17:17q21.32
likely pathogenic
NM_000212.3(ITGB3):c.877C>T (p.Gln293Ter) single nucleotide variant Glanzmann thrombasthenia [RCV001225285] Chr17:47287169 [GRCh38]
Chr17:45364535 [GRCh37]
Chr17:17q21.32
likely pathogenic
NM_000212.3(ITGB3):c.79+1G>A single nucleotide variant Glanzmann thrombasthenia [RCV001225287] Chr17:47253941 [GRCh38]
Chr17:45331307 [GRCh37]
Chr17:17q21.32
pathogenic
NM_000212.3(ITGB3):c.2113del (p.Leu705fs) deletion Glanzmann thrombasthenia [RCV001225288] Chr17:47302818 [GRCh38]
Chr17:45380184 [GRCh37]
Chr17:17q21.32
pathogenic
NM_000212.3(ITGB3):c.224del (p.Cys75fs) deletion Glanzmann thrombasthenia [RCV001225301] Chr17:47283412 [GRCh38]
Chr17:45360778 [GRCh37]
Chr17:17q21.32
pathogenic
NM_000212.2(ITGB3):c.1302G>C (p.Gln434His) single nucleotide variant Abnormal platelet aggregation [RCV000852012] Chr17:47292180 [GRCh38]
Chr17:45369546 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.1447T>C (p.Cys483Arg) single nucleotide variant Macrothrombocytopenia [RCV000852030] Chr17:47292325 [GRCh38]
Chr17:45369691 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.2(ITGB3):c.2224A>G (p.Lys742Glu) single nucleotide variant Thrombocytopenia [RCV000852077] Chr17:47307560 [GRCh38]
Chr17:45384926 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.3(ITGB3):c.*2081T>G single nucleotide variant Glanzmann thrombasthenia [RCV001124659] Chr17:47312285 [GRCh38]
Chr17:45389651 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.3(ITGB3):c.*1349G>C single nucleotide variant Glanzmann thrombasthenia [RCV001123586] Chr17:47311553 [GRCh38]
Chr17:45388919 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.3(ITGB3):c.557C>T (p.Pro186Leu) single nucleotide variant not provided [RCV000862152] Chr17:47284638 [GRCh38]
Chr17:45362004 [GRCh37]
Chr17:17q21.32
likely benign
NM_000212.3(ITGB3):c.180C>T (p.Gly60=) single nucleotide variant Glanzmann thrombasthenia [RCV001123375]|not provided [RCV000865002] Chr17:47283368 [GRCh38]
Chr17:45360734 [GRCh37]
Chr17:17q21.32
likely benign|uncertain significance
NM_000212.3(ITGB3):c.1959C>T (p.Asp653=) single nucleotide variant not provided [RCV000861932] Chr17:47300523 [GRCh38]
Chr17:45377889 [GRCh37]
Chr17:17q21.32
benign
NM_000212.3(ITGB3):c.2014+1G>A single nucleotide variant Glanzmann thrombasthenia [RCV001225241] Chr17:47300579 [GRCh38]
Chr17:45377945 [GRCh37]
Chr17:17q21.32
pathogenic
NM_000212.3(ITGB3):c.115T>G (p.Cys39Gly) single nucleotide variant Glanzmann thrombasthenia [RCV001225279] Chr17:47274454 [GRCh38]
Chr17:45351820 [GRCh37]
Chr17:17q21.32
likely pathogenic
NM_000212.3(ITGB3):c.1791del (p.Asn597fs) deletion Glanzmann thrombasthenia [RCV001225286] Chr17:47299408 [GRCh38]
Chr17:45376774 [GRCh37]
Chr17:17q21.32
pathogenic
NM_000212.3(ITGB3):c.774_775del (p.Cys258_Asp259delinsTer) microsatellite Glanzmann thrombasthenia [RCV001225289] Chr17:47286417..47286418 [GRCh38]
Chr17:45363783..45363784 [GRCh37]
Chr17:17q21.32
pathogenic
NM_000212.3(ITGB3):c.448A>G (p.Met150Val) single nucleotide variant Glanzmann thrombasthenia [RCV001225290] Chr17:47284529 [GRCh38]
Chr17:45361895 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.3(ITGB3):c.1550del (p.Gly517fs) deletion Glanzmann thrombasthenia [RCV001225297] Chr17:47292426 [GRCh38]
Chr17:45369792 [GRCh37]
Chr17:17q21.32
pathogenic
NM_000212.3(ITGB3):c.505C>T (p.Arg169Ter) single nucleotide variant Glanzmann thrombasthenia [RCV001225299] Chr17:47284586 [GRCh38]
Chr17:45361952 [GRCh37]
Chr17:17q21.32
pathogenic
NM_000212.3(ITGB3):c.19C>T (p.Pro7Ser) single nucleotide variant Glanzmann thrombasthenia [RCV001127480] Chr17:47253880 [GRCh38]
Chr17:45331246 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.3(ITGB3):c.*185T>G single nucleotide variant Glanzmann thrombasthenia [RCV001124575] Chr17:47310389 [GRCh38]
Chr17:45387755 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.3(ITGB3):c.*1959C>T single nucleotide variant Glanzmann thrombasthenia [RCV001124658] Chr17:47312163 [GRCh38]
Chr17:45389529 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.3(ITGB3):c.1157G>A (p.Arg386His) single nucleotide variant Glanzmann thrombasthenia [RCV001125482] Chr17:47290985 [GRCh38]
Chr17:45368351 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.3(ITGB3):c.1459C>T (p.Arg487Cys) single nucleotide variant Glanzmann thrombasthenia [RCV001125485] Chr17:47292337 [GRCh38]
Chr17:45369703 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.3(ITGB3):c.346C>T (p.Leu116Phe) single nucleotide variant Glanzmann thrombasthenia [RCV001124483] Chr17:47283534 [GRCh38]
Chr17:45360900 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.3(ITGB3):c.670G>A (p.Asp224Asn) single nucleotide variant Glanzmann thrombasthenia [RCV001124485] Chr17:47286315 [GRCh38]
Chr17:45363681 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.3(ITGB3):c.1143A>T (p.Val381=) single nucleotide variant Glanzmann thrombasthenia [RCV001125481] Chr17:47290971 [GRCh38]
Chr17:45368337 [GRCh37]
Chr17:17q21.32
benign
NM_000212.3(ITGB3):c.*2117G>T single nucleotide variant Glanzmann thrombasthenia [RCV001125664] Chr17:47312321 [GRCh38]
Chr17:45389687 [GRCh37]
Chr17:17q21.32
likely benign
NM_000212.3(ITGB3):c.*2404T>C single nucleotide variant Glanzmann thrombasthenia [RCV001125666] Chr17:47312608 [GRCh38]
Chr17:45389974 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.3(ITGB3):c.261C>G (p.Ala87=) single nucleotide variant Glanzmann thrombasthenia [RCV001123378] Chr17:47283449 [GRCh38]
Chr17:45360815 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.3(ITGB3):c.*1041T>C single nucleotide variant Glanzmann thrombasthenia [RCV001127679] Chr17:47311245 [GRCh38]
Chr17:45388611 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.3(ITGB3):c.1984C>T (p.Arg662Cys) single nucleotide variant Glanzmann thrombasthenia [RCV001123489] Chr17:47300548 [GRCh38]
Chr17:45377914 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.3(ITGB3):c.72C>T (p.Gly24=) single nucleotide variant Glanzmann thrombasthenia [RCV001123374] Chr17:47253933 [GRCh38]
Chr17:45331299 [GRCh37]
Chr17:17q21.32
benign
NM_000212.3(ITGB3):c.1605C>T (p.His535=) single nucleotide variant Glanzmann thrombasthenia [RCV001127593] Chr17:47292483 [GRCh38]
Chr17:45369849 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.3(ITGB3):c.*739C>T single nucleotide variant Glanzmann thrombasthenia [RCV001127678] Chr17:47310943 [GRCh38]
Chr17:45388309 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.3(ITGB3):c.*1292G>T single nucleotide variant Glanzmann thrombasthenia [RCV001127680] Chr17:47311496 [GRCh38]
Chr17:45388862 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.3(ITGB3):c.*1505G>T single nucleotide variant Glanzmann thrombasthenia [RCV001123587] Chr17:47311709 [GRCh38]
Chr17:45389075 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.3(ITGB3):c.2015-644_2134+2135del deletion Increased mean platelet volume [RCV001003846] Chr17:47302077..47304975 [GRCh38]
Chr17:45379443..45382341 [GRCh37]
Chr17:17q21.32
likely pathogenic
NM_000212.3(ITGB3):c.1594T>C (p.Cys532Arg) single nucleotide variant Glanzmann thrombasthenia [RCV001225242] Chr17:47292472 [GRCh38]
Chr17:45369838 [GRCh37]
Chr17:17q21.32
likely pathogenic
NM_000212.3(ITGB3):c.175C>G (p.Leu59Val) single nucleotide variant Glanzmann thrombasthenia [RCV001225300] Chr17:47283363 [GRCh38]
Chr17:45360729 [GRCh37]
Chr17:17q21.32
likely benign
NM_000212.3(ITGB3):c.2331G>A (p.Thr777=) single nucleotide variant Glanzmann thrombasthenia [RCV001124572] Chr17:47310168 [GRCh38]
Chr17:45387534 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.3(ITGB3):c.*89G>A single nucleotide variant Glanzmann thrombasthenia [RCV001124573] Chr17:47310293 [GRCh38]
Chr17:45387659 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.3(ITGB3):c.*90G>C single nucleotide variant Glanzmann thrombasthenia [RCV001124574] Chr17:47310294 [GRCh38]
Chr17:45387660 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.3(ITGB3):c.1232C>T (p.Ser411Phe) single nucleotide variant Glanzmann thrombasthenia [RCV001125483] Chr17:47291060 [GRCh38]
Chr17:45368426 [GRCh37]
Chr17:17q21.32
likely benign
NM_000212.3(ITGB3):c.*2263T>C single nucleotide variant Glanzmann thrombasthenia [RCV001125665] Chr17:47312467 [GRCh38]
Chr17:45389833 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.3(ITGB3):c.1702T>C (p.Cys568Arg) single nucleotide variant Glanzmann thrombasthenia [RCV001225240] Chr17:47299319 [GRCh38]
Chr17:45376685 [GRCh37]
Chr17:17q21.32
likely pathogenic
NM_000212.3(ITGB3):c.1030dup (p.Tyr344fs) duplication Glanzmann thrombasthenia [RCV001225260] Chr17:47289770..47289771 [GRCh38]
Chr17:45367136..45367137 [GRCh37]
Chr17:17q21.32
pathogenic
NM_000212.3(ITGB3):c.16C>T (p.Arg6Trp) single nucleotide variant Glanzmann thrombasthenia [RCV001127479] Chr17:47253877 [GRCh38]
Chr17:45331243 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.3(ITGB3):c.*1585A>C single nucleotide variant Glanzmann thrombasthenia [RCV001123588] Chr17:47311789 [GRCh38]
Chr17:45389155 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.3(ITGB3):c.889G>A (p.Gly297Arg) single nucleotide variant Glanzmann thrombasthenia [RCV001124487] Chr17:47287181 [GRCh38]
Chr17:45364547 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.3(ITGB3):c.31T>C (p.Trp11Arg) single nucleotide variant Glanzmann thrombasthenia [RCV001225262] Chr17:47253892 [GRCh38]
Chr17:45331258 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.3(ITGB3):c.1125+29G>C single nucleotide variant Glanzmann thrombasthenia [RCV001225298] Chr17:47290303 [GRCh38]
Chr17:45367669 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.3(ITGB3):c.1260+11C>T single nucleotide variant Glanzmann thrombasthenia [RCV001125484] Chr17:47291099 [GRCh38]
Chr17:45368465 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.3(ITGB3):c.1595G>A (p.Cys532Tyr) single nucleotide variant Glanzmann thrombasthenia [RCV001225239] Chr17:47292473 [GRCh38]
Chr17:45369839 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_000212.3(ITGB3):c.122_125dup (p.Cys42Ter) duplication Glanzmann thrombasthenia [RCV001225265] Chr17:47274460..47274461 [GRCh38]
Chr17:45351826..45351827 [GRCh37]
Chr17:17q21.32
pathogenic
NM_000212.3(ITGB3):c.629G>C (p.Cys210Ser) single nucleotide variant Glanzmann thrombasthenia [RCV001225284] Chr17:47286274 [GRCh38]
Chr17:45363640 [GRCh37]
Chr17:17q21.32
likely pathogenic
NM_000212.3(ITGB3):c.1641C>A (p.Cys547Ter) single nucleotide variant Glanzmann thrombasthenia [RCV001254668] Chr17:47292519 [GRCh38]
Chr17:45369885 [GRCh37]
Chr17:17q21.32
pathogenic
NM_000212.3(ITGB3):c.1697G>A (p.Gly566Asp) single nucleotide variant Glanzmann thrombasthenia [RCV001254669] Chr17:47299314 [GRCh38]
Chr17:45376680 [GRCh37]
Chr17:17q21.32
pathogenic
NM_000212.3(ITGB3):c.1080C>A (p.Ser360=) single nucleotide variant not provided [RCV001257186] Chr17:47290229 [GRCh38]
Chr17:45367595 [GRCh37]
Chr17:17q21.32
likely benign
NM_000212.3(ITGB3):c.349C>T (p.Arg117Trp) single nucleotide variant Abnormal bleeding [RCV001270533] Chr17:47283537 [GRCh38]
Chr17:45360903 [GRCh37]
Chr17:17q21.32
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6156 AgrOrtholog
COSMIC ITGB3 COSMIC
Ensembl Genes ENSG00000259207 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000452786 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000461626 UniProtKB/TrEMBL
  ENSP00000465586 UniProtKB/TrEMBL
Ensembl Transcript ENST00000559488 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000571680 UniProtKB/TrEMBL
  ENST00000573377 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.410 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000259207 GTEx
HGNC ID HGNC:6156 ENTREZGENE
Human Proteome Map ITGB3 Human Proteome Map
InterPro EGF_extracell UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  I-EGF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_beta-3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_beta_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_bsu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_bsu_cyt_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_bsu_tail UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_bsu_tail_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_bsu_VWA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PSI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  vWFA_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3690 UniProtKB/Swiss-Prot
NCBI Gene 3690 ENTREZGENE
OMIM 173470 OMIM
  187800 OMIM
  273800 OMIM
  608446 OMIM
PANTHER PTHR10082 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10082:SF25 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  I-EGF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_b_cyt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_B_tail UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_beta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PSI_integrin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB ITGB3 RGD, PharmGKB
PIRSF Integrin_B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS INTEGRINB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE EGF_1 UniProtKB/Swiss-Prot
  EGF_2 UniProtKB/Swiss-Prot
  INTEGRIN_BETA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART INB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_b_cyt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_B_tail UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PSI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF69179 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF69687 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A5E4DMZ9_HUMAN UniProtKB/TrEMBL
  A0A6B9NYH9_HUMAN UniProtKB/TrEMBL
  A7U833_HUMAN UniProtKB/TrEMBL
  F1C630_HUMAN UniProtKB/TrEMBL
  F1C632_HUMAN UniProtKB/TrEMBL
  F1C633_HUMAN UniProtKB/TrEMBL
  F1C634_HUMAN UniProtKB/TrEMBL
  F2X0U9_HUMAN UniProtKB/TrEMBL
  F2X0V0_HUMAN UniProtKB/TrEMBL
  I3L4X8_HUMAN UniProtKB/TrEMBL
  ITB3_HUMAN UniProtKB/Swiss-Prot
  L7UUZ7_HUMAN UniProtKB/TrEMBL
  L7UW06_HUMAN UniProtKB/TrEMBL
  L7WKL1_HUMAN UniProtKB/TrEMBL
  P05106 ENTREZGENE
  Q16157_HUMAN UniProtKB/TrEMBL
  Q1PBM2_HUMAN UniProtKB/TrEMBL
UniProt Secondary A0PJW2 UniProtKB/Swiss-Prot
  D3DXJ8 UniProtKB/Swiss-Prot
  O15495 UniProtKB/Swiss-Prot
  Q12806 UniProtKB/Swiss-Prot
  Q13413 UniProtKB/Swiss-Prot
  Q14648 UniProtKB/Swiss-Prot
  Q16499 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-22 ITGB3  integrin subunit beta 3    integrin beta 3  Symbol and/or name change 5135510 APPROVED
2015-12-08 ITGB3  integrin beta 3    integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)  Symbol and/or name change 5135510 APPROVED
2011-08-16 ITGB3  integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)  ITGB3  integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)  Symbol and/or name change 5135510 APPROVED