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POU4F3

Chr 5q32

POU class 4 homeobox 3

Aliases:
BRN3C
MANE:
ENST00000646991.2

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Monogenic hearing loss

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Familial Meniere Disease

Disease associations (Open Targets)

  • autosomal dominant nonsyndromic hearing loss

    0.71
  • neurodegenerative disease

    0.53
  • deafness

    0.45
  • Non-syndromic genetic deafness

    0.39
  • nonsyndromic genetic hearing loss

    0.37
  • Hearing impairment

    0.32
  • hearing loss, autosomal recessive

    0.29
  • Rare genetic deafness

    0.28
  • injury

    0.23
  • hereditary disease

    0.19

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

POU domain, class 4, transcription factor 3

Acts as a transcriptional activator (PubMed:18228599). Acts by binding to sequences related to the consensus octamer motif 5'-ATGCAAAT-3' in the regulatory regions of its target genes (PubMed:18228599). Involved in the auditory system development, required for terminal differentiation of hair cells in the inner ear (By similarity)

Curated MONDO disease pages that list POU4F3 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.