POU class 3 homeobox 4
Last updated 18 Aug 2020
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The POU3F4 gene provides instructions for making a protein that helps regulate the activity of other genes. Based on this role, the protein is called a transcription factor. The POU3F4 gene is part of a larger family of transcription factor genes called POU domain genes. These genes play a role in determining cell types in the brain and spinal cord (the central nervous system) during early development. The proteins produced from genes in the POU domain family each include two regions, called the POU-specific domain and POU homeodomain, that bind to the DNA of other genes.
Normal function
The POU3F4 gene provides instructions for making a protein that helps regulate the activity of other genes. Based on this role, the protein is called a transcription factor. The POU3F4 gene is part of a larger family of transcription factor genes called POU domain genes. These genes play a role in determining cell types in the brain and spinal cord (the central nervous system) during early development. The proteins produced from genes in the POU domain family each include two regions, called the POU-specific domain and POU homeodomain, that bind to the DNA of other genes.
The POU3F4 protein is likely to be involved in the development of the middle and inner ear, and it is also active in certain regions of the brain before birth. Researchers are working to determine which genes are regulated by this protein.
Conditions referring to this gene or chromosome
Other names
BRAIN-4
brain-specific homeobox/POU domain protein 4
Brn-4
BRN4
DFN3
DFNX2
OTF9
PO34_HUMAN
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Further reading and references
- POU class 3 homeobox 4; MedlinePlus, National Library of Medicine.
- Bademci G, Lasisi A, Yariz KO, Montenegro P, Menendez I, Vinueza R, Paredes R, Moreta G, Subasioglu A, Blanton S, Fitoz S, Incesulu A, Sennaroglu L, Tekin M. Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations. BMC Med Genet. 2015 Feb 25;16:9. doi: 10.1186/s12881-015-0149-2.
- Bitner-Glindzicz M, Turnpenny P, Hoglund P, Kaariainen H, Sankila EM, van der Maarel SM, de Kok YJ, Ropers HH, Cremers FP, Pembrey M, et al. Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3. Hum Mol Genet. 1995 Aug;4(8):1467-9. doi: 10.1093/hmg/4.8.1467. No abstract available.
- Dang J, Bian P, Chen C, Chen C, Shan W, Cai L, Li Y, Tan H, Xu B, Guan M, Guo Y. Impact of POU3F4 mutation on cochlear development and auditory function. Cell Commun Signal. 2025 Mar 5;23(1):121. doi: 10.1186/s12964-025-02133-y.
- de Kok YJ, van der Maarel SM, Bitner-Glindzicz M, Huber I, Monaco AP, Malcolm S, Pembrey ME, Ropers HH, Cremers FP. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science. 1995 Feb 3;267(5198):685-8. doi: 10.1126/science.7839145.
- Lee HK, Song MH, Kang M, Lee JT, Kong KA, Choi SJ, Lee KY, Venselaar H, Vriend G, Lee WS, Park HJ, Kwon TK, Bok J, Kim UK. Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein. Physiol Genomics. 2009 Nov 6;39(3):195-201. doi: 10.1152/physiolgenomics.00100.2009. Epub 2009 Aug 11.
- Marlin S, Moizard MP, David A, Chaissang N, Raynaud M, Jonard L, Feldmann D, Loundon N, Denoyelle F, Toutain A. Phenotype and genotype in females with POU3F4 mutations. Clin Genet. 2009 Dec;76(6):558-63. doi: 10.1111/j.1399-0004.2009.01215.x.
- Parzefall T, Shivatzki S, Lenz DR, Rathkolb B, Ushakov K, Karfunkel D, Shapira Y, Wolf M, Mohr M, Wolf E, Sabrautzki S, de Angelis MH, Frydman M, Brownstein Z, Avraham KB. Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice. Hum Mutat. 2013 Aug;34(8):1102-10. doi: 10.1002/humu.22339. Epub 2013 May 8.
- Prat Matifoll JA, Wilson M, Goetti R, Birman C, Bennett B, Peadon E, Prats-Uribe A, Prelog K. A Case Series of X-Linked Deafness-2 with Sensorineural Hearing Loss, Stapes Fixation, and Perilymphatic Gusher: MR Imaging and Clinical Features of Hypothalamic Malformations. AJNR Am J Neuroradiol. 2020 Jun;41(6):1087-1093. doi: 10.3174/ajnr.A6541. Epub 2020 May 14.
- Song MH, Lee KY, Choi JY, Bok J, Kim UK. Nonsyndromic X-linked hearing loss. Front Biosci (Elite Ed). 2012 Jan 1;4(3):924-33. doi: 10.2741/E430.
- Su Y, Gao X, Huang SS, Mao JN, Huang BQ, Zhao JD, Kang DY, Zhang X, Dai P. Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families. BMC Med Genet. 2018 Sep 4;19(1):157. doi: 10.1186/s12881-018-0630-9.
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