POU3F4

POU domain, class 3, transcription factor 4 is a protein that in humans is encoded by the POU3F4 gene found on the X chromosome.^[5][6][7]

POU3F4
Identifiers
Aliases	POU3F4, BRAIN-4, BRN-4, BRN4, DFN3, DFNX2, OCT-9, OTF-9, OTF9, POU class 3 homeobox 4
External IDs	OMIM: 300039; MGI: 101894; HomoloGene: 260; GeneCards: POU3F4; OMA:POU3F4 - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xq21.1 Start 83,508,290 bp[1] End 83,512,127 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X E1|X 48.2 cM Start 109,857,886 bp[2] End 109,860,813 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence ventricular zone nucleus accumbens caudate nucleus putamen cingulate gyrus amygdala anterior cingulate cortex prefrontal cortex hypothalamus Top expressed in Rostral migratory stream medial ganglionic eminence vestibular sensory epithelium utricle stria vascularis vestibular membrane of cochlear duct lumbar subsegment of spinal cord hair ventricular zone cochlea More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA-binding transcription factor activity DNA binding sequence-specific DNA binding double-stranded DNA binding RNA polymerase II transcription regulatory region sequence-specific DNA binding minor groove of adenine-thymine-rich DNA binding protein binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component intracellular anatomical structure nucleus Biological process regulation of transcription by RNA polymerase II negative regulation of mesenchymal cell apoptotic process inner ear development brain development regulation of transcription, DNA-templated transcription by RNA polymerase II hearing cochlea morphogenesis transcription, DNA-templated forebrain neuron differentiation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5456 18994 Ensembl ENSG00000196767 ENSMUSG00000056854 UniProt P49335 P62515 RefSeq (mRNA) NM_000307 NM_008901 RefSeq (protein) NP_000298 NP_032927 Location (UCSC) Chr X: 83.51 – 83.51 Mb Chr X: 109.86 – 109.86 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

POU3F4 is involved in the patterning of the neural tube and both the paraventricular and supraoptic nuclei of the hypothalamus in the developing embryo.^[8] During development, POU3F4 is also expressed in the mesenchyme of the periotic bone surrounding the inner ear.^[9] A “knockout” mice model displayed that alteration to the POU3F4 gene interrupted this mesenchymal cell differentiation in the superior semicircular canal. The deformities observed in mice were similar to those in humans with X-linked non-syndromic deafness (DFN-3).^[10]

Clinical significance

Genetic testing on various persons has confirmed that mutations of the POU3F4 gene cause X-linked non-syndromic deafness (DFN-3).^[11] These known mutations include:

• Missense mutation causing the substitution of amino acid glycine for glutamic acid at position 216^[12]
• A deletion of the POU3F4 gene and 530 more kilobases upstream^[13]
• An amino acid substitution of serine for leucine (S228L) in POU3F4^[13]
• Frameshift truncation and extension mutations at the POU3F4 C-terminus^[14]

Physical anomalies caused by POU3F4 mutations that have been recognized by high resolution computed tomography (HRCT) and magnetic resonance imaging (MRI) include absence of the central axis of the cochlea, an abnormally wide lateral internal auditory canal and a thickened stapes footplate. These anomalies are associated with X-linked non-syndromic deafness.^[15]