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ITGA2B

From SNPedia

is agene
is mentioned by
Full nameintegrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
EntrezGene3674
PheGenI3674
VariationViewer3674
ClinVarITGA2B
GeneCardsITGA2B
dbSNP3674
SADR3674
HugeNav3674
wikipediaITGA2B
googleITGA2B
gopubmedITGA2B
EVSITGA2B
HEFalMpITGA2B
MyGene2ITGA2B
23andMeITGA2B
UniProtP08514
EnsemblENSG00000005961
OMIM607759
# SNPs33
 Max MagnitudeChromosome positionSummary
rs137852906344,380,004Glanzmann's thrombasthenia
rs137852907344,384,567Glanzmann's thrombasthenia
rs137852908344,383,630Glanzmann's thrombasthenia
rs137852909344,381,019Glanzmann's thrombasthenia
rs137852910344,383,640Glanzmann's thrombasthenia
rs137852911344,385,193Glanzmann's thrombasthenia
rs59111.544,375,697
rs74475415044,376,323
rs74602141044,380,082
rs74664206044,374,352
rs74857210044,380,283
rs75028796044,378,676
rs75622274044,381,058
rs76066357044,385,686
rs763330792044,375,719
rs76572092044,375,082
rs766503255044,372,408
rs76811038344,379,780Glanzmann's thrombasthenia
rs77229108044,378,712
rs77458039044,375,039
rs77961246044,377,772
rs780017389044,380,901
rs78165611044,374,449
rs78218617044,380,626
rs78321762044,384,112
rs78657866044,374,470
rs79657230044,374,673
rs80002943344,374,732Glanzmann's thrombasthenia
rs80277041344,379,689Glanzmann's thrombasthenia
rs879255508044,385,706
rs879255509044,380,385
rs879255514044,372,407

The ITGA2B gene is located on chromosome 17 and encodes platelet glycoprotein IIb, the alpha subunit of the platelet membrane adhesive protein receptor complex GPIIb/IIIa. [The beta subunit, GPIIIa, is encoded by the ITGB3 gene.] Mutations in either gene may lead to dominant or recessive forms of Glanzmann's thrombasthenia.

Mutations in the ITGA2B gene reported to be associated with recessive forms of Glanzmann's thrombasthenia include: