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


RefSeq Accession Definition Services Price Order
NM_000307 Homo sapiens POU class 3 homeobox 4 (POU3F4), mRNA. ORF Sequence $314.94
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RefSeq Version NM_000307.4, 433288479
Length 1507 bp
Structure linear
Update Date 27-MAR-2013
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 family member plays a role in inner ear development. The protein is thought to be involved in the mediation of epigenetic signals which induce striatal neuron-precursor differentiation. Mutations in this gene are associated with X chromosome-linked nonsyndromic mixed deafness. [provided by RefSeq, Dec 2012].


Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

RefSeq NP_000298.3
CDS 65..1150
Misc Feature(1)14..16
Misc Feature(2)14..16
Misc Feature(3)620..844
Misc Feature(4)620..844
Misc Feature(5)899..1072
Misc Feature(6)order(899..913,917..919,968..970,986..988,1025..1027,
Misc Feature(7)order(905..907,914..916,1034..1036,1043..1048,1055..1057)
Exon (1)1..1507
Gene:POU3F4
Gene Synonym:BRAIN-4; BRN-4; BRN4; DFN3; DFNX2; OCT-9; OTF-9; OTF9
Translation MATAASNPYSILSSTSLVHADSAGMQQGSPFRNPQKLLQSDYLQGVPSNGHPLGHHWVTS LSDGGPWSSTLATSPLDQQDVKPGREDLQLGAIIHHRSPHVAHHSPHTNHPNAWGASPAP NPSITSSGQPLNVYSQPGFTVSGMLEHGGLTPPPAAASAQSLHPVLREPPDHGELGSHHC QDHSDEETPTSDELEQFAKQFKQRRIKLGFTQADVGLALGTLYGNVFSQTTICRFEALQL SFKNMCKLKPLLNKWLEEADSSTGSPTSIDKIAAQGRKRKKRTSIEVSVKGVLETHFLKC PKPAAQEISSLADSLQLEKEVVRVWFCNRRQKEKRMTPPGDQQPHEVYSHTVKTDTSCHD L
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Position Chain Variation Link
Gene SymbolPOU3F4
Gene SynonymBRAIN-4; BRN-4; BRN4; DFN3; DFNX2; OCT-9; OTF-9; OTF9
ChromosomeX
Locus MapXq21.1
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000307 Homo sapiens POU class 3 homeobox 4 (POU3F4), mRNA. Full Length $437.03
ORF Sequence $314.94
Title Destabilization and mislocalization of POU3F4 by C-terminal frameshift truncation and extension mutation .
Author Choi,B.Y., Kim,D.H., Chung,T., Chang,M., Kim,E.H., Kim,A.R., Seok,J., Chang,S.O., Bok,J., Kim,D., Oh,S.H. and Park,W.Y.
Journal Hum. Mutat. 34 (2), 309-316 (2013)
Title Common molecular etiologies are rare in nonsyndromic Tibetan Chinese patients with hearing impairment .
Author Yuan,Y., Zhang,X., Huang,S., Zuo,L., Zhang,G., Song,Y., Wang,G., Wang,H., Huang,D., Han,D. and Dai,P.
Journal PLoS ONE 7 (2), E30720 (2012)
Title Nonsyndromic X-linked hearing loss .
Author Song,M.H., Lee,K.Y., Choi,J.Y., Bok,J. and Kim,U.K.
Journal Front Biosci (Elite Ed) 4, 924-933 (2012)
Title Novel mutation in the homeobox domain of transcription factor POU3F4 associated with profound sensorineural hearing loss .
Author Schild,C., Prera,E., Lublinghoff,N., Arndt,S., Aschendorff,A. and Birkenhager,R.
Journal Otol. Neurotol. 32 (4), 690-694 (2011)
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 Transcribed sequences encoded in the region involved in contiguous deletion syndrome that comprises X-linked stapes fixation and deafness .
Author Kandpal,G., Jacob,A.N. and Kandpal,R.P.
Journal Somat. Cell Mol. Genet. 22 (6), 511-517 (1996)
Title Transcription factors in disease .
Author Engelkamp,D. and van Heyningen,V.
Journal Curr. Opin. Genet. Dev. 6 (3), 334-342 (1996)
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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