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 |