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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

Corresponding disease	MACID Macrocephaly, acquired, with impaired intellectual development
Location	9p22.3      Physical location : 14.081.841 - 14.398.982
Synonym name	TGGCA-binding protein
	CCAAT-box-binding transcription factor
Synonym symbol(s)	NFIB2, NFIB3, NFI-RED, HMGIC/NFIB, CTF

DNA

TYPE	functioning gene
STRUCTURE	232.10 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001190737 11 splicing 8507 NP_001177666 55 494 - 1997 9099724 NM_001190738 9 splicing 8180 NP_001177667 - 446 - 1997 9099724 NFIB2 NM_005596 9 - 8285 NP_005587 47.3 420 - 1997 9099724 truncated isoform generated by use of a premature polyadenylation site located in an intron NM_001282787 11 - 7643 NP_001269716 - 309 - 1997 9099724

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine neuroendocrine pituitary       Homo sapiens Hearing/Equilibrium ear       predominantly Nervous brain forebrain cerebral cortex     Homo sapiens   brain hindbrain pons   highly Homo sapiens Respiratory lung       highly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     moderately Epithelial absorptive excretory alveolar epithelium     Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Endocrine thyrotrophs Homo sapiens Nervous glia Homo sapiens Nervous neuron Homo sapiens Respiratory epithelial cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	moderately in umbilical cord
	expressed in the developing telencephalon

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a CTF/NF-I DNA-binding domain
	a DWA-MH1 domain

conjugated

PhosphoP

mono polymer

homomer , dimer

HOMOLOGY

interspecies

homolog to murine Nfib (99.1 pc)

Homologene

FAMILY	Nuclear Factor One family
	CTF/NF-I family

CATEGORY

DNA associated , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleolus

basic FUNCTION	recognizing the palindromic sequence 5'- TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2
	being capable of activating transcription and replication
	play roles in patterning, glial development, cortical cell migration and axon guidance
	involved in the cooperative regulation of whey acidic protein (WFDC5) gene transcription along with the glucocorticoid receptor and STAT5
	rearrangement of NFIB might be associated with deep-seated lipomas, such as retroperitoneal or gastro-intestinal lipomas
	plays an important role in the generation of precerebellar mossy fiber neurons, and may do so at least in part by regulating neurogenesis
	mesenchymal NFIB-mediated signals are essential for the maturation of distal lung epithelium
	CUX1 and NFIB contribute to autism spectrum disorder susceptibility
	transcription factor NFIB is an unanticipated coordinator of stem cell behaviour
	critical functions of NFIB in regulating cortical development
	promotes pro-metastatic neuronal gene expression programs and drives the metastatic ability of small cell lung cancer (SCLC) cells
	transcription factor required for proper development and regulation of cellular differentiation in several tissues
	exhibits tumour suppressive functions in many malignancies
	plays a crucial role in the progression of several types of cancers
	promotes tumor growth and aggressiveness of gastric cancer
	importance of NFIB for normal cortical development

CELLULAR PROCESS	nucleotide, replication
	nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA	binding to the palindromic sequence 5'- TTGGCNNNNNGCCAA-3'

RNA

small molecule

protein	forced expressions of NFIB markedly reduced TSHB promoter activity and its mRNA expression
	NFIB binds to the EZH2 promoter and overexpression of NFIB represses EZH2 transcription
	NFIB-STAT5 modules, possibly in conjunction with other transcription factors, control cell-specific genetic programs
	fundamental role for NFIB as a coregulator of AR action in the prostate and in controlling prostatic hyperplasia (
	regulates the expression of genes related to axon guidance, focal adhesion and extracellular matrix-receptor interactions

cell & other

REGULATION

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