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FLASH GENE

Symbol

NFIB

contributors: mct/pgu - updated : 27-11-2018

HGNC name	nuclear factor I/B
HGNC id	7785

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

MACID

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion translocation     t(6;9)(q23.3;p22.3) translocation in adenoid cystic carcinomas (ACC) of the breast and head and neck results in fusions encoding chimeric transcripts predominantly consisting of MYB exon 14 linked to the last coding exon(s) of NFIB tumoral fusion       in a case of retroperitoneal lipoma, fusion of HMGA2 with NFIB with a t(9;16;19)(p22;q21;q13) and a rearrangement of NFIB and no rearrangement of HMGA2 tumoral     --over   cooperates with RB1/TP53 deletion to promote small cell lung cancer

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	novel and specific biomarker for oxaliplatin resistance in human cancers
Therapy target
	System Type Disorder Pubmed cancer     gain-of-function activity resulting from the MYB-NFIB fusion is a candidate therapeutic target

ANIMAL & CELL MODELS

	Nfia and Nfix null mice exhibit no apparent pontine phenotype, implying specificity in the action of NFI family members
	Nfib-deficient mice possess unique defects in lung maturation and exhibit callosal agenesis and forebrain defects that are similar to, but more severe than, those seen in Nfia-deficient animals
	Nfib knockout embryos display multiple defects, including agenesis of the corpus callosum, enlarged ventricles, and hippocampal anomalies
	Nfib(-/-) mice exhibit an increased number of proliferative ventricular zone cells that express progenitor cell markers and upregulation of Ezh2 expression within the neocortex and hippocampus