Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
gptkb:gene |
| gptkbp:alternativeName |
gptkb:IDN3
gptkb:SCC2 delangin |
| gptkbp:associatedWith |
gptkb:Cornelia_de_Lange_syndrome
|
| gptkbp:encodes |
gptkb:Nipped-B-like_protein
|
| gptkbp:Entrez_Gene_ID |
25836
ENSG00000163635 |
| gptkbp:expressedIn |
gptkb:nucleus
|
| gptkbp:function |
regulation of gene expression
cohesin loading factor |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:16466
|
| gptkbp:interactsWith |
gptkb:cohesin_complex
MAU2 protein |
| gptkbp:locatedOnChromosome |
gptkb:chromosome_5
5p13.2 |
| gptkbp:mutationAssociatedWith |
gptkb:intellectual_disability
developmental delay limb abnormalities |
| gptkbp:OMIM |
608667
|
| gptkbp:orthologIn |
gptkb:Drosophila_Nipped-B
|
| gptkbp:UniProtID |
Q6KC79
|
| gptkbp:bfsParent |
gptkb:SCC2
|
| gptkbp:bfsLayer |
7
|
| http://www.w3.org/2000/01/rdf-schema#label |
NIPBL (in humans)
|