Property Summary

NCBI Gene PubMed Count 24
Grant Count 44
R01 Count 31
Funding $6,701,284.14
PubMed Score 59.79
PubTator Score 38.22

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis -1.400 0.000

 GO Component (1)

Gene RIF (15)

PMID Text
25372459 These data demonstrate that Nr2f2 is a direct target of POU4F3 in vitro and that this regulatory relationship may be relevant to hair cell development and survival.
25015561 The pou4f3 gene is regulated by ATOH1 and other transcription factors in cochlear hair cells.
24556497 Data indicate that POUF4F3 deletion associated with hearing impairment.
24275721 new variants in genes such as POU4F3 is associated with nonsyndromic deafness and vestibular dysfunction
24260153 SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).
20434433 This is the first report of a POU4F3 mutation in Asia, and moreover our data suggest that further investigation will need to delineate ethnicity-specific genetic background for autosomal dominant non-syndromic hearing loss within Asian populations.
20054994 Molecular modelling is utilised to propose a mechanism of stability enhancement, via an interaction between the truncated POU(HD) domain and the POU(S) domain of the transcription factor.
19462854 Cochleovestibular characteristics were investigated in a Dutch DFNA15 family with a novel POU4F3 mutation, L223P.
19372648 extended subset of L289F POU4F3 mutation carriers varied from normal to areflexia in cochleovestibular disease
18347256 report presents a detailed audiometric analysis of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in the POU4F3 gene
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AA Sequence

MMAMNSKQPFGMHPVLQEPKFSSLHSGSEAMRRVCLPAPQLQGNIFGSFDESLLARAEALAAVDIVSHGK      1 - 70
NHPFKPDATYHTMSSVPCTSTSSTVPISHPAALTSHPHHAVHQGLEGDLLEHISPTLSVSGLGAPEHSVM     71 - 140
PAQIHPHHLGAMGHLHQAMGMSHPHTVAPHSAMPACLSDVESDPRELEAFAERFKQRRIKLGVTQADVGA    141 - 210
ALANLKIPGVGSLSQSTICRFESLTLSHNNMIALKPVLQAWLEEAEAAYREKNSKPELFNGSERKRKRTS    211 - 280
IAAPEKRSLEAYFAIQPRPSSEKIAAIAEKLDLKKNVVRVWFCNQRQKQKRMKYSAVH                281 - 338
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Text Mined References (23)

PMID Year Title
27535032 2016 Exome sequencing identifies POU4F3 as the causative gene for a large Chinese family with non-syndromic hearing loss.
25372459 2014 Regulation of the orphan nuclear receptor Nr2f2 by the DFNA15 deafness gene Pou4f3.
25015561 2015 Transcription factors with conserved binding sites near ATOH1 on the POU4F3 gene enhance the induction of cochlear hair cells.
24556497 2014 Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing loss.
24275721 2014 Genetics of dizziness: cerebellar and vestibular disorders.
24260153 2013 SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).
23805044 2013 RIT2, a neuron-specific small guanosine triphosphatase, is expressed in retinal neuronal cells and its promoter is modulated by the POU4 transcription factors.
20434433 2010 A novel frameshift mutation of POU4F3 gene associated with autosomal dominant non-syndromic hearing loss.
20054994 2008 Molecular modelling insights into DFNA15 mediated enhancement of POU4F3 stability.
19462854 2009 Mild and variable audiometric and vestibular features in a third DFNA15 family with a novel mutation in POU4F3.
More...