NFIB (gene)

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Embryonic Development[edit]

The NFIB gene is a part of the NFI gene complex that includes three other genes (NFIA, NFIC and NFIX).[1][2] The NFIB gene is a protein coding gene that also serves as a transcription factor.[3] This gene is essential in embryonic development and it works together with its gene complex to initiate tissue differentiation in the fetus. NFIB has the highest concentrations in the lung, skeletal muscle and heart but is also found in the areas of the developing liver, kidneys and brain.[1]

Through knockout experiments, researchers found that mice without the NFIB gene have severely underdeveloped lungs.[2][4] This mutation does not seem to cause spontaneous abortions because in utero the fetus does not use its lungs for respiration. However, this becomes lethal once the fetus is born and has to take its first breath. It is thought that NFIB plays a role in down regulating the transcription factors TGF-β1 and Shh in normal gestation because they remained high in knockout experiments.[2] The absence of NFIB also leads to insufficient amounts of surfactant being produced which is one reason why the mice cannot breathe once it is born.[2] The knockout experiments demonstrated that NFIB has a significant role in fore-brain development. NFIB is typically found in pontine nuclei of the CNS, the cerebral cortex and the white matter of the brain and without NFIB these areas are dramatically affected.[1][4]

Absence of one copy is associated with macrocephaly and intellectual disability. This associated was confirmed in mouse modelswhere deletion of one copy resulted in enlargement of the brain while preserving its overall organisation.


AliasesNFIB, CTF, HMGIC/NF-I/B, NF1-B, NFI-B, NFI-RED, NFIB2, NFIB3, nuclear factor I B, MACID
External IDsMGI: 103188 HomoloGene: 4087 GeneCards: NFIB
Gene location (Human)
Chromosome 9 (human)
Chr.Chromosome 9 (human)[6]
Chromosome 9 (human)
Genomic location for NFIB
Genomic location for NFIB
Band9p23-p22.3Start14,081,843 bp[6]
End14,398,983 bp[6]
RNA expression pattern
PBB GE NFIB 209289 at fs.png

PBB GE NFIB 209290 s at fs.png

PBB GE NFIB 211467 s at fs.png
More reference expression data
RefSeq (mRNA)



RefSeq (protein)


Location (UCSC)Chr 9: 14.08 – 14.4 MbChr 4: 82.29 – 82.71 Mb
PubMed search[8][9]
View/Edit HumanView/Edit Mouse

General Information[edit]

Nuclear factor 1 B-type is a protein that in humans is encoded by the NFIB gene.[10][11]

NFIB haploinsufficiency is also associated with intellectual disability and macrocephaly, as are NFIA and NFIX.[12]


  1. ^ a b c Chaudhry, Ali Z.; Lyons, Gary E.; Gronostajski, Richard M. (1997-03-01). "Expression patterns of the four nuclear factor I genes during mouse embryogenesis indicate a potential role in development". Developmental Dynamics. 208 (3): 313–325. doi:10.1002/(SICI)1097-0177(199703)208:33.0.CO;2-L (inactive 2019-03-13). ISSN 1097-0177.
  2. ^ a b c d Gründer, Albert; Ebel, Thorsten T.; Mallo, Moisés; Schwarzkopf, Georg; Shimizu, Takehiko; Sippel, Albrecht E.; Schrewe, Heinrich (2002-03-01). "Nuclear factor I-B (Nfib) deficient mice have severe lung hypoplasia". Mechanisms of Development. 112 (1–2): 69–77. doi:10.1016/S0925-4773(01)00640-2. PMID 11850179.
  3. ^ Database, GeneCards Human Gene. "NFIB Gene - GeneCards | NFIB Protein | NFIB Antibody". Retrieved 2017-04-09.
  4. ^ a b Steele-Perkins, George; Plachez, Céline; Butz, Kenneth G.; Yang, Guanhu; Bachurski, Cindy J.; Kinsman, Stephen L.; Litwack, E. David; Richards, Linda J.; Gronostajski, Richard M. (2005-01-15). "The Transcription Factor Gene Nfib Is Essential for both Lung Maturation and Brain Development". Molecular and Cellular Biology. 25 (2): 685–698. doi:10.1128/MCB.25.2.685-698.2005. ISSN 0270-7306. PMC 543431. PMID 15632069.
  5. ^ Schanze I, Bunt J, Lim JWC, Schanze D, Dean RJ, Alders M, Blanchet P, Attié-Bitach T, Berland S, Boogert S, Boppudi S, Bridges CJ, Cho MT8, Dobyns WB, Donnai D, Douglas J, Earl DL, Edwards TJ, Faivre L, Fregeau B, Genevieve D, Gérard M, Gatinois V, Holder-Espinasse M, Huth SF, Izumi K, Kerr B, Lacaze E, Lakeman P, Mahida S, Mirzaa GM, Morgan SM, Nowak C, Peeters H, Petit F, Pilz DT, Puechberty J5, Reinstein E, Rivière JB, Santani AB, Schneider A, Sherr EH, Smith-Hicks C, Wieland I, Zackai E, Zhao X, Gronostajski RM, Zenker M, Richards LJ (2018) NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. Am J Hum Genet 103(5):752-768 doi: 10.1016/j.ajhg.2018.10.006.
  6. ^ a b c GRCh38: Ensembl release 89: ENSG00000147862 - Ensembl, May 2017
  7. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000008575 - Ensembl, May 2017
  8. ^ "Human PubMed Reference:".
  9. ^ "Mouse PubMed Reference:".
  10. ^ Qian F, Kruse U, Lichter P, Sippel AE (Dec 1995). "Chromosomal localization of the four genes (NFIA, B, C, and X) for the human transcription factor nuclear factor I by FISH". Genomics. 28 (1): 66–73. doi:10.1006/geno.1995.1107. PMID 7590749.
  11. ^ "Entrez Gene: NFIB nuclear factor I/B".
  12. ^ NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. doi:10.1016/j.ajhg.2018.10.006. PMID 30388402.

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.