Aliases for SHROOM2 Gene
External Ids for SHROOM2 Gene
Previous HGNC Symbols for SHROOM2 Gene
Previous GeneCards Identifiers for SHROOM2 Gene
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]
GeneCards Summary for SHROOM2 Gene
SHROOM2 (Shroom Family Member 2) is a Protein Coding gene. Diseases associated with SHROOM2 include ocular albinism. Among its related pathways are Tight junction. GO annotations related to this gene include actin binding and actin filament binding. An important paralog of this gene is SHROOM1.
UniProtKB/Swiss-Prot for SHROOM2 Gene
May be involved in endothelial cell morphology changes during cell spreading. In the retinal pigment epithelium, may regulate the biogenesis of melanosomes and promote their association with the apical cell surface by inducing gamma-tubulin redistribution (By similarity).