POU3F4

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POU class 3 homeobox 4
Identifiers
Symbols POU3F4 ; BRAIN-4; BRN-4; BRN4; DFN3; DFNX2; OCT-9; OTF-9; OTF9
External IDs OMIM300039 MGI101894 HomoloGene260 GeneCards: POU3F4 Gene
RNA expression pattern
PBB GE POU3F4 207694 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 5456 18994
Ensembl ENSG00000196767 ENSMUSG00000056854
UniProt P49335 P62515
RefSeq (mRNA) NM_000307 NM_008901
RefSeq (protein) NP_000298 NP_032927
Location (UCSC) Chr X:
82.76 – 82.76 Mb
Chr X:
110.81 – 110.82 Mb
PubMed search [1] [2]

POU domain, class 3, transcription factor 4 is a protein that in humans is encoded by the POU3F4 gene.[1][2][3]

Clinical significance[edit]

Mutations in POU3F4, located on the X chromosome, may cause deafness.[2][4]

The role of POU3F4 in the hypothalamus where it was originally described remains unknown.[5][6]

References[edit]

  1. ^ Douville PJ, Atanasoski S, Tobler A, Fontana A, Schwab ME (Jul 1994). "The brain-specific POU-box gene Brn4 is a sex-linked transcription factor located on the human and mouse X chromosomes". Mamm Genome 5 (3): 180–2. doi:10.1007/BF00352353. PMID 7911044. 
  2. ^ a b 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. (Dec 1995). "Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3". Hum Mol Genet 4 (8): 1467–9. doi:10.1093/hmg/4.8.1467. PMID 7581392. 
  3. ^ "Entrez Gene: POU3F4 POU domain, class 3, transcription factor 4". 
  4. ^ de Kok YJ, van der Maarel SM, Bitner-Glindzicz M, Huber I, Monaco AP, Malcolm S, Pembrey ME, Ropers HH, Cremers FP (February 1995). "Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4". Science 267 (5198): 685–8. doi:10.1126/science.7839145. PMID 7839145. 
  5. ^ Le Moine C, Young WS (April 1992). "RHS2, a POU domain-containing gene, and its expression in developing and adult rat". Proc. Natl. Acad. Sci. U.S.A. 89 (8): 3285–9. doi:10.1073/pnas.89.8.3285. PMC 48851. PMID 1348858. 
  6. ^ Malik KF, Kim J, Hartman AL, Kim P, Young WS (June 1996). "Binding preferences of the POU domain protein Brain-4: implications for autoregulation". Brain Res. Mol. Brain Res. 38 (2): 209–21. doi:10.1016/0169-328x(95)00308-f. PMID 8793109. 

Further reading[edit]

External links[edit]

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