Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:IDN3
gptkb:SCC2 |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:Cornelia_de_Lange_syndrome
|
| gptkbp:discoveredIn |
2004
|
| gptkbp:encodes |
gptkb:NIPBL_protein
|
| gptkbp:Entrez_Gene_ID |
25836
ENSG00000125818 |
| gptkbp:expressedIn |
various human tissues
|
| gptkbp:fullName |
gptkb:Nipped-B-like_protein
|
| gptkbp:function |
cohesin loading factor
|
| gptkbp:HGNC_ID |
HGNC:18758
|
| https://www.w3.org/2000/01/rdf-schema#label |
NIPBL
|
| gptkbp:length |
2804 amino acids
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_5
5p13.2 |
| gptkbp:mutationAssociatedWith |
gptkb:Cornelia_de_Lange_syndrome_type_1
|
| gptkbp:OMIM |
608667
|
| gptkbp:orthologIn |
gptkb:Drosophila_Nipped-B
|
| gptkbp:UniProtID |
Q6KC79
|
| gptkbp:bfsParent |
gptkb:chromosome_5
|
| gptkbp:bfsLayer |
5
|