GENETIC ENCYCLOPEDIA
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gene: CD109

id135228
symbolCD109
organismHomo sapiens
full nameCD109 molecule
summaryThis gene encodes a glycosyl phosphatidylinositol (GPI)-linked glycoprotein that localizes to the surface of platelets, activated T-cells, and endothelial cells. The protein binds to and negatively regulates signalling by transforming growth factor beta (TGF-beta). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
variant-disease

GRCh37/hg19 6q13(chr6:74484013-74610890)x1 AND not provided

NM_133493.5(CD109):c.3346G>C (p.Glu1116Gln) AND Severe Myopia

GRCh37/hg19 6q13(chr6:74315347-74421677)x3 AND not provided

GRCh37/hg19 6q13(chr6:74304415-74421677)x3 AND not provided

GRCh38/hg38 6q13(chr6:73479920-74931870)x1 AND See cases

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