Details for Gene NBN

GENE NAME NBN
CHROMOSOME 8
ENSEMBL ID ENSG00000104320
ENTREZ ID 4683
UNIPROT ACCESSION NUMBER O60934
GO MOLECULAR FUNCTION DNA-binding transcription factor binding; protein N-terminus binding; damaged DNA binding; protein binding
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-2559586; R-HSA-5693538; R-HSA-5693567; R-HSA-5685939; R-HSA-69620; R-HSA-5693537; R-HSA-1474165; R-HSA-5693571; R-HSA-5693565; R-HSA-5693568; R-HSA-2559583; R-HSA-5693579; R-HSA-69473; R-HSA-73894; R-HSA-6804756; R-HSA-5633007; R-HSA-5693554; R-HSA-5693607; R-HSA-5693548; R-HSA-69481; hsa04218; R-HSA-212436; R-HSA-3700989; R-HSA-5685942; hsa03440; R-HSA-1640170; R-HSA-2262752; R-HSA-5693606; R-HSA-74160; R-HSA-912446; R-HSA-5685938; R-HSA-5693532; R-HSA-5693616; R-HSA-8953897; R-HSA-1500620; R-HSA-73857
1 combination linked to NBN OLI1058
1 variant linked to NBN NBN:c.596C>G, p.Pro199Arg
1 disease linked to NBN Primary ovarian failure

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