Details for Gene SHROOM2

GENE NAME SHROOM2
CHROMOSOME X
ENSEMBL ID ENSG00000146950
ENTREZ ID 357
UNIPROT ACCESSION NUMBER Q13796
GO MOLECULAR FUNCTION protein binding; actin filament binding; beta-catenin binding; ligand-gated sodium channel activity; actin binding
ESSENTIAL IN MOUSE None
PATHWAYS
4 combinations linked to SHROOM2 OLI1032; OLI723; OLI753; OLI740
4 variants linked to SHROOM2 SHROOM2:c.345C>A, p.His115Gln; SHROOM2:c.4274C>T, p.Ser1425Leu; SHROOM2:c.4661G>A, p.Arg1554His; SHROOM2:c.631G>A, p.Gly211Ser
2 diseases linked to SHROOM2 Isolated anencephaly; Atypical hemolytic uremic syndrome

Found any issues with the data on this page? Report this entry.