POU4F3

Chr 5

POU class 4 homeobox 3

Also known as: BRN3C, DFNA15, DFNA42, DFNA52

NCBI Gene: 5459 ENSG00000091010 UniProt: Q15319

This gene encodes a POU-domain transcription factor that acts as a transcriptional activator by binding to octamer motifs in target gene regulatory regions and is required for terminal differentiation of hair cells in the inner ear. Mutations cause autosomal dominant non-syndromic sensorineural hearing loss (DFNA15/52). The gene is highly constrained against loss-of-function variants (pLI 0.92, LOEUF 0.37), indicating intolerance to functional disruption.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the POU-domain family of transcription factors. POU-domain proteins have been observed to play important roles in control of cell identity in several systems. This protein is found in the retina and may play a role in determining or maintaining the identities of a small subset of visual system neurons. Defects in this gene are the cause of non-syndromic sensorineural deafness autosomal dominant type 15. [provided by RefSeq, Mar 2009]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDeafness, autosomal dominant, 15

Clinical highlights

Gene-disease validity (ClinGen)

nonsyndromic genetic hearing loss · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.37

LOEUF

Multiple*

Mechanism· predicted

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GeneReview available — POU4F3