NFIB
Identifiers
Aliases	NFIB, CTF, HMGIC/NF-I/B, NF1-B, NFI-B, NFI-RED, NFIB2, NFIB3, nuclear factor I B, MACID
External IDs	OMIM:600728;MGI:103188;HomoloGene:4087;GeneCards:NFIB;OMA:NFIB - orthologs
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9p23-p22.3 Start 14,081,843bp[1] End 14,398,983bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4 C3|4 38.4 cM Start 82,208,410bp[2] End 82,623,987bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pericardium epithelium of lactiferous gland lactiferous duct urethra nipple parietal pleura mucosa of paranasal sinus saphenous vein vena cava synovial joint Top expressed in Rostral migratory stream human fetus ureter pineal gland semi-lunar valve internal carotid artery lactiferous gland condyle parotid gland efferent ductule More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding transcription corepressor activity DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific RNA polymerase II cis-regulatory region sequence-specific DNA binding double-stranded DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component intracellular anatomical structure cerebellar mossy fiber nucleus fibrillar center Biological process cell differentiation involved in salivary gland development club cell differentiation negative regulation of epithelial cell proliferation involved in lung morphogenesis regulation of transcription, DNA-templated negative regulation of mesenchymal cell proliferation involved in lung development chondrocyte differentiation lung development negative regulation of DNA binding salivary gland cavitation hindbrain development glial cell differentiation negative regulation of transcription by RNA polymerase II commissural neuron axon guidance transcription, DNA-templated anterior commissure morphogenesis lung ciliated cell differentiation DNA replication type I pneumocyte differentiation principal sensory nucleus of trigeminal nerve development forebrain development type II pneumocyte differentiation positive regulation of transcription by RNA polymerase II negative regulation of pri-miRNA transcription by RNA polymerase II negative regulation of cell population proliferation transcription by RNA polymerase II response to bacterium Sources:Amigo /QuickGO
Orthologs Species Human Mouse Entrez 4781 18028 Ensembl ENSG00000147862 ENSMUSG00000008575 UniProt O00712 P97863 RefSeq (mRNA) NM_001190737 NM_001190738 NM_001282787 NM_005596 NM_001113209 NM_001113210 NM_001286127 NM_001286131 NM_008687 RefSeq (protein) NP_001177666 NP_001177667 NP_001269716 NP_005587 NP_001356387 NP_001356388 NP_001356389 NP_001356390 NP_001356391 NP_001356392 NP_001356393 NP_001356394 NP_001356395 NP_001356396 NP_001356397 NP_001356398 NP_001356399 NP_001356400 NP_001356401 NP_001356402 NP_001356403 NP_001356404 NP_001356405 NP_001356406 NP_001356407 NP_001356408 NP_001356409 NP_001356410 NP_001106680 NP_001106681 NP_001273056 NP_001273060 NP_032713 Location (UCSC) Chr 9: 14.08 – 14.4 Mb Chr 4: 82.21 – 82.62 Mb PubMed search [3] [4]
Wikidata
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Nuclear factor 1 B-type is aprotein that in humans is encoded by theNFIBgene.^[5][6]

NFIBhaploinsufficiency is also associated with intellectual disability and macrocephaly, as are NFIA and NFIX.^[7]

The NFIB gene is a part of the NFI gene complex that includes three other genes (NFIA,NFIC andNFIX).^[8][9] The NFIB gene is a protein coding gene that also serves as atranscription factor.^[10] This gene is essential in embryonic development and it works together with its gene complex to initiate tissuedifferentiation 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.^[8]

Through knockout experiments, researchers found that mice without the NFIB gene have severely underdeveloped lungs.^[9][11] This mutation does not seem to causespontaneous abortions because in utero the fetus does not use its lungs forrespiration. 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 factorsTGF-β1 andShh in normal gestation because they remained high in knockout experiments.^[9] The absence of NFIB also leads to insufficient amounts ofsurfactant being produced which is one reason why the mice cannot breathe once it is born.^[9] The knockout experiments demonstrated that NFIB has a significant role infore-brain development. NFIB is typically found inpontine nuclei of theCNS, thecerebral cortex and thewhite matter of the brain and without NFIB these areas are dramatically affected.^[8][11]

Absence of one copy is associated withmacrocephaly and intellectual disability. This associated was confirmed in mouse models where deletion of one copy resulted in enlargement of the brain while preserving its overall organisation.^[12]

• NFIB+protein,+human at the U.S. National Library of MedicineMedical Subject Headings (MeSH)

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.

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