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 |