POU3F4, POU class 3 homeobox 4, 5456

N. diseases: 65; N. variants: 18
Disease: Nonsyndromic Deafness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease BEFREE Only three X-linked genes (POU class 3 homeobox 4 (POU3F4), phosphoribosyl pyrophosphate synthetase 1 (PRPS1), and small muscle protein X-linked (SMPX)) are known to be involved in nonsyndromic hearing loss. 30874365 2020
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss. 27941975 2016
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN Deficiency of transcription factor Brn4 disrupts cochlear gap junction plaques in a model of DFN3 non-syndromic deafness. 25259580 2014
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN Pou3f4-mediated regulation of ephrin-b2 controls temporal bone development in the mouse. 25299585 2014
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease BEFREE In the ear, POU3F4 is essential for mesenchymal remodeling of the bony labyrinth and is the causative gene for DFNX2 human nonsyndromic deafness. 23606368 2013
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 GeneticVariation disease BEFREE From these results, we conclude that frameshift truncation and extension mutations in the C-terminus of POU3F4 lead to cytoplasmic localization and subsequent proteosomal degradation due to structural aberrations, which cause transcriptional inactivity and thus nonsyndromic hearing loss. 23076972 2013
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN In the ear, POU3F4 is essential for mesenchymal remodeling of the bony labyrinth and is the causative gene for DFNX2 human nonsyndromic deafness. 23606368 2013
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 GeneticVariation disease BEFREE Identification of a novel mutation in POU3F4 for prenatal diagnosis in a Chinese family with X-linked nonsyndromic hearing loss. 21193157 2010
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN The sex-linked fidget mutation abolishes Brn4/Pou3f4 gene expression in the embryonic inner ear. 10587581 2000
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN Targeted mutagenesis of the POU-domain gene Brn4/Pou3f4 causes developmental defects in the inner ear. 10407036 1999
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. 7839145 1995
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3. 7581392 1995