Details for Gene NIPBL

GENE NAME NIPBL
CHROMOSOME 5
ENSEMBL ID None
ENTREZ ID ENSG00000164190
UNIPROT ACCESSION NUMBER Q6KC79
GO MOLECULAR FUNCTION ['protein N-terminus binding', 'chromatin binding', 'chromo shadow domain binding', 'mediator complex binding', 'protein C-terminus binding', 'protein binding', 'promoter-specific chromatin binding', 'histone deacetylase binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-1640170; R-HSA-2470946; R-HSA-68884; R-HSA-68886; R-HSA-69278
2 combinations linked to NIPBL OLI1579; OLI1516
2 variants linked to NIPBL NIPBL:c.6954+3A>G, ; NIPBL:c.2461A>G, p.Lys821Glu
2 diseases linked to NIPBL 46,XY disorder of sex development; Syndrome with 46,XY disorder of sex development

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