POU3F4 POU class 3 homeobox 4
Gene ID: 5456, updated on 5-Mar-2024Gene type: protein coding
Also known as: BRN4; DFN3; OTF9; BRN-4; DFNX2; OCT-9; OTF-9; BRAIN-4
- See all available tests in GTR for this gene
- Go to complete Gene record for POU3F4
- Go to Variation Viewer for POU3F4 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. GeneReviews: Not available | |
| Hereditary hearing loss and deafness MedGen: C0236038GeneReviews: Genetic Hearing Loss Overview | See labs |
| X-linked mixed hearing loss with perilymphatic gusher | See labs |
Genomic context
- Location:
- Xq21.1
- Sequence:
- Chromosome: X; NC_000023.11 (83508290..83512127)
- Total number of exons:
- 1
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for POU3F4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- Hereditary Hearing Loss Homepage
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- POU3F4 @ LOVD
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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