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 | OLI979; OLI1056; OLI978 |
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 |