Details for Gene PLEC

GENE NAME PLEC
CHROMOSOME 8
ENSEMBL ID ENSG00000178209
ENTREZ ID 5339
UNIPROT ACCESSION NUMBER Q15149
GO MOLECULAR FUNCTION protein binding; structural molecule activity; ankyrin binding; structural constituent of cytoskeleton; dystroglycan binding; RNA binding; actin binding; protein self-association; cadherin binding; structural constituent of muscle
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-446728; R-HSA-1500931; R-HSA-109581; R-HSA-5357801; R-HSA-2022090; R-HSA-1474290; R-HSA-264870; R-HSA-2022090; R-HSA-1474290; R-HSA-264870; R-HSA-109581; R-HSA-5357801; R-HSA-111465; R-HSA-1500931; R-HSA-1474244; R-HSA-446107; R-HSA-446728; R-HSA-75153; R-HSA-446107; R-HSA-75153; R-HSA-1474244; R-HSA-111465
3 combinations linked to PLEC OLI978; OLI979; OLI1056
3 variants linked to PLEC PLEC:c.11387C>T, p.Thr3796Ile; PLEC:c.9739C>T, p.Arg3247Trp; PLEC:c.5801G>A, p.Arg1934His
2 diseases linked to PLEC Primary ovarian failure; Left ventricular noncompaction

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