|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:IDN3
gptkb:SCC2
gptkb:CDLS
DEL5P13.2
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Cornelia_de_Lange_syndrome
|
|
gptkbp:clinicalTrialPhase
|
yes
|
|
gptkbp:discoveredIn
|
2002
|
|
gptkbp:encodes
|
gptkb:NIPBL_protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000164754
25836
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:fullName
|
Nipped-B-like protein gene
|
|
gptkbp:function
|
regulation of sister chromatid cohesion
chromosome segregation
transcriptional regulation
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
HGNC:18758
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:interactsWith
|
gptkb:RAD21
gptkb:SMC1A
gptkb:SMC3
gptkb:STAG2
gptkb:cohesin_complex
MAU2
|
|
gptkbp:length
|
2804 amino acids
~190 kb
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_5
5p13.2
|
|
gptkbp:mouseOrtholog
|
Nipbl
|
|
gptkbp:mutationAssociatedWith
|
nonsense
developmental disorders
missense
frameshift
splice site
|
|
gptkbp:numberOfExons
|
47
|
|
gptkbp:OMIM
|
608667
|
|
gptkbp:orthologInDrosophila
|
gptkb:Nipped-B
|
|
gptkbp:pathway
|
DNA repair
cell cycle
cohesin loading
|
|
gptkbp:proteinFamily
|
coiled-coil domain
nuclear localization signal
HEAT repeat
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
chromatin
|
|
gptkbp:UniProtID
|
Q6KC79
|
|
gptkbp:zebrafishOrtholog
|
nipbla
nipblb
|
|
gptkbp:bfsParent
|
gptkb:Cornelia_de_Lange_syndrome_type_1
gptkb:NIPBL_protein
gptkb:Nipped-B-like_protein
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
NIPBL gene
|