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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for NIPBL (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID25836
Official gene symbolNIPBL
Full nameNipped-B homolog (Drosophila)
Aliases,CDLS,CDLS1,DKFZp434L1319,FLJ11203,FLJ12597,FLJ13354,FLJ13648,FLJ44854,IDN3,IDN3-B,Scc2,
Gene summaryThis gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and mental retardation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]
LocationChromosome: 5   Locus: 5p13.2
Gene position36876861 - 37065921  Map Viewer
Gene orientationplus
Gene size189061 bp
Gene sequence
OMIM ID608667