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Gene Review

POU4F3  -  POU class 4 homeobox 3

Homo sapiens

Synonyms: BRN3C, Brain-3C, Brain-specific homeobox/POU domain protein 3C, Brn-3C, DFNA15, ...
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Disease relevance of POU4F3

  • Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans [1].

High impact information on POU4F3

  • Linkage analysis placed this deafness locus, DFNA15, on chromosome 5q31 [1].
  • We propose that the combination of defects caused by the mutation on the function of the POU4F3 transcription factor eventually leads to hair cell morbidity in affected family H members [2].
  • POU4F3 is a member of the POU family of transcription factors and is essential for inner-ear hair cell maintenance [2].
  • Because of the differences in auditory phenotype and the absence of pathogenic mutation in the coding region of POU4F3 it is likely that there is a second gene in 5q31, designated DFNA54, associated with NSHHI [3].
  • In addition to Wolfram syndrome gene 1 (DFNA6/14/38) and diaphanous (DFNA1) there is evidence for a third gene involved in low-frequency hearing loss located at DFNA15 [3].

Other interactions of POU4F3

  • By the candidate gene approach, mutation screening of the DIAPH1 and POU4F3 genes at 5q31 was performed [4].

Analytical, diagnostic and therapeutic context of POU4F3

  • To test the potential effects of the human POU4F3 mutation, we performed a series of experiments in cell culture to mimic the human mutation [2].


  1. Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. Vahava, O., Morell, R., Lynch, E.D., Weiss, S., Kagan, M.E., Ahituv, N., Morrow, J.E., Lee, M.K., Skvorak, A.B., Morton, C.C., Blumenfeld, A., Frydman, M., Friedman, T.B., King, M.C., Avraham, K.B. Science (1998) [Pubmed]
  2. The DFNA15 deafness mutation affects POU4F3 protein stability, localization, and transcriptional activity. Weiss, S., Gottfried, I., Mayrose, I., Khare, S.L., Xiang, M., Dawson, S.J., Avraham, K.B. Mol. Cell. Biol. (2003) [Pubmed]
  3. DFNA54, a third locus for low-frequency hearing loss. Gürtler, N., Kim, Y., Mhatre, A., Schlegel, C., Mathis, A., Lalwani, A.K. J. Mol. Med. (2004) [Pubmed]
  4. A novel locus for autosomal dominant nonsyndromic hearing loss identified at 5q31.1-32 in a Chinese pedigree. Xia, J., Deng, H., Feng, Y., Zhang, H., Pan, Q., Dai, H., Long, Z., Tang, B., Deng, H., Chen, Y., Zhang, R., Zheng, D., He, Y., Xia, K. J. Hum. Genet. (2002) [Pubmed]
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