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Homo sapiens POU class 3 homeobox 4 (POU3F4), mRNA.


RefSeq Accession Definition Sequence Price Select
NM_000307 Homo sapiens POU class 3 homeobox 4 (POU3F4), mRNA. Full Lenth $437.03
ORF Sequence $314.94


RefSeq Version NM_000307.3, 194440735
Length 1507 bp
Structure linear
Update Date 10-APR-2011
Organism Homo sapiens (human)
Definition Homo sapiens POU class 3 homeobox 4 (POU3F4), mRNA.
Product POU domain, class 3, transcription factor 4
Comment

Summary: This gene encodes a member of the POU-III class of neural transcription factors. This gene may play a role in the mediation of epigenetic signals which induce striatal neuron-precursor differentiation. Mutations have been associated with X chromosome-linked nonsyndromic mixed deafness. [provided by RefSeq].

RefSeq NP_000298.2
CDS 65..1150
Exon (1)1..1507
Exon (2)1..1507
Translation MATAASNPYSILSSTSLVHADSAGMQQGSPFRNPQKLLQSDYLQGVPSNGHPLGHHWVTS LSDGGPWSSTLATSPLDQQDVKPGREDLQLGAIIHHRSPHVAHHSPHTNHPNAWGASPAP NPSITSSGQPLNVYSQPGFTVSGMLEHGGLTPPPAAASAQSLHPVLREPPDHGELGSHHC QDHSDEETPTSDELEQFAKQFKQRRIKLGFTQADVGLALGTLYGNVFSQTTICRFEGLQL SFKNMCKLKPLLNKWLEEADSSTGSPTSIDKIAAQGRKRKKRTSIEVSVKGVLETHFLKC PKPAAQEISSLADSLQLEKEVVRVWFCNRRQKEKRMTPPGDQQPHEVYSHTVKTDTSCHD L
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Position Chain Variation Link
405+a, gdbSNP:111033343
559+c, gdbSNP:56143048
563+c, tdbSNP:111033345
668+a, tdbSNP:104894920
772+a, gdbSNP:5921978
772+, adbSNP:111919890
774+c, gdbSNP:5921979
775..776+, cdbSNP:113043342
884+a, gdbSNP:1042659
991..993+, ctcdbSNP:111033340
1014+g, tdbSNP:104894921
1028+a, gdbSNP:111033291
1031+c, gdbSNP:104894924
1054+a, tdbSNP:104894923
1064+a, gdbSNP:104894922
1096+a, gdbSNP:41312552
Gene SymbolPOU3F4
Gene SynonymBRAIN-4; BRN4; DFN3; DFNX2; OTF9
ChromosomeX
Locus MapXq21.1
All Transcripts NM_000307
Title Cochlear implantation in children with congenital X-linked deafness due to novel mutations in POU3F4 gene .
Author Stankovic,K.M., Hennessey,A.M., Herrmann,B. and Mankarious,L.A.
Journal Ann. Otol. Rhinol. Laryngol. 119 (12), 815-822 (2010)
Title Identification of a novel mutation in POU3F4 for prenatal diagnosis in a Chinese family with X-linked nonsyndromic hearing loss .
Author Li,J., Cheng,J., Lu,Y., Lu,Y., Chen,A., Sun,Y., Kang,D., Zhang,X., Dai,P., Han,D. and Yuan,H.
Journal J Genet Genomics 37 (12), 787-793 (2010)
Title Clinical evaluation of DFN3 patients with deletions in the POU3F4 locus and detection of carrier female using MLPA .
Author Song,M.H., Lee,H.K., Choi,J.Y., Kim,S., Bok,J. and Kim,U.K.
Journal Clin. Genet. 78 (6), 524-532 (2010)
Title Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing .
Author Naranjo,S., Voesenek,K., de la Calle-Mustienes,E., Robert-Moreno,A., Kokotas,H., Grigoriadou,M., Economides,J., Van Camp,G., Hilgert,N., Moreno,F., Alsina,B., Petersen,M.B., Kremer,H. and Gomez-Skarmeta,J.L.
Journal Hum. Genet. 128 (4), 411-419 (2010)
Title Phenotype and genotype in females with POU3F4 mutations .
Author Marlin,S., Moizard,M.P., David,A., Chaissang,N., Raynaud,M., Jonard,L., Feldmann,D., Loundon,N., Denoyelle,F. and Toutain,A.
Journal Clin. Genet. 76 (6), 558-563 (2009)
Title The class III POU factor Brn-4 interacts with other class III POU factors and the heterogeneous nuclear ribonucleoprotein U .
Author Malik,K.F., Jaffe,H., Brady,J. and Young,W.S. III.
Journal Brain Res. Mol. Brain Res. 45 (1), 99-107 (1997)
Title The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POU3F4 missense mutation .
Author de Kok,Y.J., Cremers,C.W., Ropers,H.H. and Cremers,F.P.
Journal Hum. Mutat. 10 (3), 207-211 (1997)
Title Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3 .
Author Bitner-Glindzicz,M., Turnpenny,P., Hoglund,P., Kaariainen,H., Sankila,E.M., van der Maarel,S.M., de Kok,Y.J., Ropers,H.H., Cremers,F.P., Pembrey,M. et al.
Journal Hum. Mol. Genet. 4 (8), 1467-1469 (1995)
Title Association between X-linked mixed deafness and mutations in the .
Author de Kok,Y.J., van der Maarel,S.M., Bitner-Glindzicz,M., Huber,I., Monaco,A.P., Malcolm,S., Pembrey,M.E., Ropers,H.H. and Cremers,F.P.
Journal Science 267 (5198), 685-688 (1995)
Title The brain-specific POU-box gene Brn4 is a sex-linked transcription factor located on the human and mouse X chromosomes .
Author Douville,P.J., Atanasoski,S., Tobler,A., Fontana,A. and Schwab,M.E.
Journal Mamm. Genome 5 (3), 180-182 (1994)

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