NIPBL

NIPBL
Identifiers
Aliases	NIPBL, CDLS, CDLS1, IDN3, IDN3-B, Scc2, cohesin loading factor, NIPBL cohesin loading factor
External IDs	OMIM: 608667; MGI: 1913976; HomoloGene: 15850; GeneCards: NIPBL; OMA:NIPBL - orthologs
Gene location (Human)
Chr.	Chromosome 5 (human)
End	37,066,413 bp
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)
End	8,473,947 bp
RNA expression pattern
	Top expressed in
	testicle; ; Achilles tendon; ; epithelium of colon; ; ventricular zone; ; ganglionic eminence; ; gonad; ; pancreatic ductal cell; ; internal globus pallidus; ; sural nerve; ; tendon of biceps brachii;
	Top expressed in
	Rostral migratory stream; ; internal carotid artery; ; maxillary prominence; ; external carotid artery; ; Paneth cell; ; human fetus; ; lacrimal gland; ; mandibular prominence; ; seminiferous tubule; ; hair follicle;
	More reference expression data
	n/a
Gene ontology
Molecular function	mediator complex binding; chromo shadow domain binding; protein N-terminus binding; histone deacetylase binding; chromatin binding; protein C-terminus binding; protein binding;
Cellular component	SMC loading complex; nucleoplasm; chromatin; extracellular exosome; nucleus; integrator complex; nuclear chromosome; chromosome; Scc2-Scc4 cohesin loading complex;
Biological process	positive regulation of histone deacetylation; forelimb morphogenesis; eye morphogenesis; regulation of embryonic development; cognition; uterus morphogenesis; cellular response to X-ray; regulation of developmental growth; heart morphogenesis; outflow tract morphogenesis; positive regulation of ossification; negative regulation of transcription by RNA polymerase II; hearing; cellular response to DNA damage stimulus; stem cell population maintenance; ear morphogenesis; heart development; brain development; developmental growth; external genitalia morphogenesis; regulation of hair cycle; positive regulation of multicellular organism growth; embryonic digestive tract morphogenesis; gall bladder development; regulation of gene expression; embryonic cranial skeleton morphogenesis; embryonic viscerocranium morphogenesis; cell cycle; metanephros development; negative regulation of transcription, DNA-templated; fat cell differentiation; maintenance of mitotic sister chromatid cohesion; embryonic forelimb morphogenesis; face morphogenesis; positive regulation of transcription by RNA polymerase II; regulation of transcription by RNA polymerase II; positive regulation of neuron migration; transcription, DNA-templated; regulation of transcription, DNA-templated; multicellular organism development; mitotic sister chromatid cohesion; double-strand break repair; mitotic chromosome condensation; establishment of mitotic sister chromatid cohesion; rDNA condensation; establishment of protein localization to chromatin; cohesin loading; positive regulation of mitotic cohesin loading; replication-born double-strand break repair via sister chromatid exchange;
	Sources:Amigo / QuickGO
Orthologs
	25836
	71175
	ENSG00000164190
	ENSMUSG00000022141
	Q6KC79
	Q6KCD5
	NM_015384; NM_133433
	NM_027707; NM_201232
	NP_056199; NP_597677
	NP_081983; NP_957684
	Wikidata
View/Edit Human	View/Edit Mouse

Nipped-B-like protein (NIPBL), also known as SCC2 or delangin is a protein that in humans is encoded by the NIPBL gene. NIPBL is required for the association of cohesin with DNA and is the major subunit of the cohesin loading complex. Heterozygous mutations in NIPBL account for an estimated 60% of case of Cornelia de Lange Syndrome.