Details for Gene OPTN

GENE NAME OPTN
CHROMOSOME 10
ENSEMBL ID None
ENTREZ ID ENSG00000123240
UNIPROT ACCESSION NUMBER Q96CV9
GO MOLECULAR FUNCTION ['small GTPase binding', 'protein-macromolecule adaptor activity', 'protein C-terminus binding', 'protein binding', 'polyubiquitin modification-dependent protein binding', 'K63-linked polyubiquitin modification-dependent protein binding', 'metal ion binding', 'identical protein binding']
ESSENTIAL IN MOUSE None
PATHWAYS hsa04137; hsa05014; hsa05022; R-HSA-1640170; R-HSA-199991; R-HSA-2565942; R-HSA-453274; R-HSA-5653656; R-HSA-69275; R-HSA-69278; R-HSA-8854214; R-HSA-9007101
20 combinations linked to OPTN OLI431; OLI1015; OLI437; OLI776; OLI629; OLI436; OLI630; OLI631; OLI435; OLI641; OLI561; OLI774; OLI360; OLI662; OLI439; OLI579; OLI442; OLI644; OLI1699; OLI578
14 variants linked to OPTN OPTN:c.1243-740_1612+1292delins25, p.Gly538GlufsTer27; OPTN:c.1699A>G, p.Thr567Ala; OPTN:c.1634G>A, p.Arg545Gln; OPTN:c.964A>G, p.Lys322Glu; OPTN:c.1403T>G, p.Met468Arg; OPTN:c.293T>A, p.Met98Lys; OPTN:c.476G>T, p.Gly159Val; OPTN:c.1223A>C, p.Glu408Ala; OPTN:c.491A>Y, p.Gln314Leu; OPTN:c.1588C>A, p.Gln530Lys; OPTN:c.626+1G>T, ; OPTN:p.Arg271His; OPTN:c.817G>T, p.Glu273Ter; OPTN:p.Ala433Val
2 diseases linked to OPTN Frontotemporal dementia; Amyotrophic lateral sclerosis
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