Pou3f4 POU domain, class 3, transcription factor 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pou3f4provided by MGI
Official Full Name: POU domain, class 3, transcription factor 4provided by MGI
Primary source: MGI:MGI:101894
See related: Ensembl:ENSMUSG00000056854 AllianceGenome:MGI:101894
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Slf; Brn4; Otf9; Brn-4; OTF-9; oct-9
Summary: Enables RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in cochlea morphogenesis and negative regulation of mesenchymal cell apoptotic process. Acts upstream of or within forebrain neuron differentiation; inner ear development; and sensory perception of sound. Predicted to be located in nucleoplasm. Is expressed in several structures, including brain; cranium; ear; embryo ectoderm; and foregut-midgut junction. Human ortholog(s) of this gene implicated in X-linked deafness 2. Orthologous to human POU3F4 (POU class 3 homeobox 4). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: human all
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Genomic context

Location:: X E1; X 48.2 cM

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (109857985..109862714)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (110814379..110819108)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Brn4 substantially contributes to cochlear gap junction properties to maintain the proper EP in cochleae, similar to connexin-related deafness.
Title: Deficiency of transcription factor Brn4 disrupts cochlear gap junction plaques in a model of DFN3 non-syndromic deafness.
Efnb2 expression was attenuated in Pou3f4 hemizygous null mutants relative to control.
Title: Pou3f4-mediated regulation of ephrin-b2 controls temporal bone development in the mouse.
Results show three novel mutations in the POU3F4 gene resulting in profound hearing loss in both humans and mice.
Title: Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice.
This study indicated a model whereby Pou3f4 in the otic mesenchyme establishes an Eph/ephrin-mediated fasciculation signal that promotes inner radial bundle formation.
Title: Otic mesenchyme cells regulate spiral ganglion axon fasciculation through a Pou3f4/EphA4 signaling pathway.
pou3f4 expression in inner ear might be under the control of distinct regulatory elements that fine-tune the spatio-temporal activity of this gene
Title: Characterization of new otic enhancers of the pou3f4 gene reveal distinct signaling pathway regulation and spatio-temporal patterns.
The effects of Brn-4 on the neuronal differentiation and development of neural stem cells, were investigated.
Title: Effects of Brn-4 on the neuronal differentiation of neural stem cells derived from rat midbrain.
Brn4 regulate retinoic acid metabolic genes during cochlear morphogenesis
Title: Tbx1 and Brn4 regulate retinoic acid metabolic genes during cochlear morphogenesis.
Tbx1 and Brn4 function in signaling from the periotic mesenchyme to the otic vesicle to direct proper coiling of the cochlear duct.
Title: Cooperative function of Tbx1 and Brn4 in the periotic mesenchyme is necessary for cochlea formation.
lack of role in regulating Pax6 and Nkx2.2
Title: The role of Brn4/Pou3f4 and Pax6 in forming the pancreatic glucagon cell identity.
late-onset effect of Brn-4 deficiency on the hearing organ of the mouse. About one third of heterozygous female mice revealed late-onset profound deafness at the age of 1 year.
Title: Late-onset hearing loss in a mouse model of DFN3 non-syndromic deafness: morphologic and immunohistochemical analyses.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (1)
Targeted (3) 1 citation
Radiation induced (1)
Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Pou3f4 (e-PCR), detects polymorphism
- UniSTS:507168

Pou3f4 (e-PCR), detects polymorphism
- UniSTS:144244

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables double-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables minor groove of adenine-thymine-rich DNA binding	ISO Inferred from Sequence Orthology more info
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in brain development	IEA Inferred from Electronic Annotation more info
involved_in cochlea morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within forebrain neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inner ear development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of mesenchymal cell apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in intracellular anatomical structure	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: POU domain, class 3, transcription factor 4

Names: brain-4 class III POU-domain protein; brain-specific homeobox/POU domain protein 4; octamer-binding protein 9; octamer-binding transcription factor 9; sex linked fidget

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.