GENETIC ENCYCLOPEDIA
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gene: SHROOM2

id357
symbolSHROOM2
organismHomo sapiens
full nameshroom family member 2
summaryThis gene represents the human homolog of Xenopus laevis apical protein (APX) gene, which is implicated in amiloride-sensitive sodium channel activity. It is expressed in endothelial cells and facilitates the formation of a contractile network within endothelial cells. Depletion of this gene results in an increase in endothelial sprouting, migration, and angiogenesis. This gene is highly expressed in the retina, and is a strong candidate for ocular albinism type 1 syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]
variant-disease

GRCh37/hg19 Xp22.2(chrX:9771972-9972645)x2 AND not provided

GRCh37/hg19 Xp22.2(chrX:9881680-9924989)x2 AND not provided

GRCh37/hg19 Xp22.2(chrX:9910182-9935526)x2 AND not provided

GRCh37/hg19 Xp22.2(chrX:9787331-9946656)x2 AND not provided

GRCh37/hg19 Xp22.2(chrX:9751653-10057942)x2 AND not provided

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