SHROOM2, Official Symbol SHROOM2provided by HGNC Official Full Name shroom family member 2provided by HGNC Primary source HGNC:HGNC:630 See related Ensembl:ENSG00000146950 MIM:300103; AllianceGenome:HGNC:630 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as APXL; HSAPXL Summary This 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] Expression Broad expression in ovary (RPKM 2.6), placenta (RPKM 2.6) and 21 other tissues See more Orthologs mouse all