POU3F4
From Wikipedia, the free encyclopedia
| POU class 3 homeobox 4 | ||||||||
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| Identifiers | ||||||||
| Symbols | POU3F4; BRAIN-4; BRN-4; BRN4; DFN3; DFNX2; OCT-9; OTF-9; OTF9 | |||||||
| External IDs | OMIM: 300039 MGI: 101894 HomoloGene: 260 GeneCards: POU3F4 Gene | |||||||
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| RNA expression pattern | ||||||||
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| 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 |
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| 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] Mutations in POU3F4, located on the X chromosome, may cause deafness.[4][5] The role of POU3F4 in the hypothalamus where it was originally described remains unknown.[6][7]
[edit] References
- ^ 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.
- ^ 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.
- ^ "Entrez Gene: POU3F4 POU domain, class 3, transcription factor 4". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5456.
- ^ Bitner-Glindzicz M, Turnpenny P, Höglund P, et al. (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.
- ^ de Kok YJ, van der Maarel SM, Bitner-Glindzicz M, et al. (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.
- ^ Le Moine C, Young WS 3rd. RHS2, a POU domain-containing gene, and its expression in developing and adult rat. Proc Natl Acad Sci U S A. 1992 Apr 15;89(8):3285-9. PMID 1348858
- ^ Malik KF, Kim J, Hartman AL, Kim P, Young WS 3rd. Binding preferences of the POU domain protein Brain-4: implications for autoregulation. Brain Res Mol Brain Res. 1996 Jun;38(2):209-21. PMID 8793109
[edit] Further reading
- Malik KF, Jaffe H, Brady J, Young WS (1997). "The class III POU factor Brn-4 interacts with other class III POU factors and the heterogeneous nuclear ribonucleoprotein U.". Brain Res. Mol. Brain Res. 45 (1): 99–107. doi:10.1016/S0169-328X(96)00238-0. PMID 9105675.
- de Kok YJ, Cremers CW, Ropers HH, Cremers FP (1997). "The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POU3F4 missense mutation.". Hum. Mutat. 10 (3): 207–11. doi:10.1002/(SICI)1098-1004(1997)10:3<207::AID-HUMU5>3.0.CO;2-F. PMID 9298820.
- Phippard D, Heydemann A, Lechner M, et al. (1998). "Changes in the subcellular localization of the Brn4 gene product precede mesenchymal remodeling of the otic capsule.". Hear. Res. 120 (1–2): 77–85. doi:10.1016/S0378-5955(98)00059-8. PMID 9667433.
- Hagiwara H, Tamagawa Y, Kitamura K, Kodera K (1998). "A new mutation in the POU3F4 gene in a Japanese family with X-linked mixed deafness (DFN3)". Laryngoscope 108 (10): 1544–7. doi:10.1097/00005537-199810000-00022. PMID 9778298.
- Shimazaki T, Arsenijevic Y, Ryan AK, et al. (1999). "A role for the POU-III transcription factor Brn-4 in the regulation of striatal neuron precursor differentiation". EMBO J. 18 (2): 444–56. doi:10.1093/emboj/18.2.444. PMC 1171138. PMID 9889200.
- Xia AP, Kikuchi T, Minowa O, et al. (2002). "Late-onset hearing loss in a mouse model of DFN3 non-syndromic deafness: morphologic and immunohistochemical analyses". Hear. Res. 166 (1–2): 150–8. doi:10.1016/S0378-5955(02)00309-X. PMID 12062767.
- Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome". Nature 434 (7031): 325–37. doi:10.1038/nature03440. PMC 2665286. PMID 15772651.
[edit] External links
- POU3F4 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
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