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


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu20520 Homo sapiens POU class 3 homeobox 4 (POU3F4), mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu20520C Homo sapiens POU class 3 homeobox 4 (POU3F4), mRNA. Customized vector On-demand $269.00 7-9

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Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_000307.4, 433288479
Length 1086 bp
Structure linear
Update Date 04-MAY-2014
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
33+a, cdbSNP:374967521
148+a, gdbSNP:375349043
154+c, tdbSNP:200127998
203+c, tdbSNP:144417952
226+a, gdbSNP:369124905
232+a, cdbSNP:372901057
256+a, gdbSNP:376048374
313+a, cdbSNP:370722742
365+a, gdbSNP:375260287
405+a, gdbSNP:111033343
482+a, cdbSNP:186010225
496+g, tdbSNP:148408866
532+c, tdbSNP:377423111
559+c, gdbSNP:56143048
563+c, tdbSNP:111033345
570+c, tdbSNP:200696740
649+a, gdbSNP:202020213
668+a, tdbSNP:104894920
697+g, tdbSNP:368307448
715+, gdbSNP:267606975
759+c, tdbSNP:397516335
772..774+agg, ggcdbSNP:386826000
772+, adbSNP:111919890
772+a, gdbSNP:5921978
774+c, gdbSNP:5921979
775..776+, cdbSNP:113043342
862+a, gdbSNP:186990152
874+c, tdbSNP:371128139
884+a, gdbSNP:1042659
917..918+, atdbSNP:397516336
925+a, gdbSNP:374197546
930+c, tdbSNP:191066633
949+c, gdbSNP:367805648
959+, adbSNP:267606974
991..993+, ctcdbSNP:111033340
999+c, tdbSNP:387906502
1014..1015+, tdbSNP:398122516
1014+g, tdbSNP:104894921
1028+a, gdbSNP:111033291
1031+c, gdbSNP:104894924
1054+a, tdbSNP:104894923
1064+a, gdbSNP:104894922
1078+g, tdbSNP:140485350
1096+a, gdbSNP:41312552
1118+a, g, tdbSNP:182912945
1124+, adbSNP:398122517
1125+c, tdbSNP:144463918
1172+c, gdbSNP:201213510
1173+c, tdbSNP:375216358
1291+c, tdbSNP:368408951
1410+c, gdbSNP:147101869
Gene SymbolPOU3F4
Gene SynonymBRAIN-4; BRN-4; BRN4; DFN3; DFNX2; OCT-9; OTF-9; OTF9
ChromosomeX
Locus MapXq21.1
Title Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice .
Author Parzefall T, Shivatzki S, Lenz DR, Rathkolb B, Ushakov K, Karfunkel D, Shapira Y, Wolf M, Mohr M, Wolf E, Sabrautzki S, de Angelis MH, Frydman M, Brownstein Z and Avraham KB.
Journal Hum. Mutat. 34 (8), 1102-1110 (2013)
Title Destabilization and mislocalization of POU3F4 by C-terminal frameshift truncation and extension mutation .
Author Choi BY, Kim DH, Chung T, Chang M, Kim EH, Kim AR, Seok J, Chang SO, Bok J, Kim D, Oh SH and Park WY.
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 MH, Lee KY, Choi JY, Bok J and Kim UK.
Journal Front Biosci (Elite Ed) 4, 924-933 (2012)
Title The class III POU factor Brn-4 interacts with other class III POU factors and the heterogeneous nuclear ribonucleoprotein U .
Author Malik KF, Jaffe H, Brady J and Young WS 3rd.
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 AN and Kandpal RP.
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 EM, van der Maarel SM, de Kok YJ, Ropers HH, Cremers FP and Pembrey M.
Journal Hum. Mol. Genet. 4 (8), 1467-1469 (1995)
Title Association between X-linked mixed deafness and mutations in the .
Author de Kok YJ, van der Maarel SM, Bitner-Glindzicz M, Huber I, Monaco AP, Malcolm S, Pembrey ME, Ropers HH and Cremers FP.
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 PJ, Atanasoski S, Tobler A, Fontana A and Schwab ME.
Journal Mamm. Genome 5 (3), 180-182 (1994)

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