Skip to content
Use your HSA or FSA funds

Gene

POU3F4

POU class 3 homeobox 4

Summary

Cytogenetic location
Xq21.1
Coordinates
Chromosome X: 83,508,290–83,512,127 (GRCh38)
Exons
1 exon across 3.8 kb
Protein
361 amino acids
Also known as
BRN4, OTF9, DFNX2
Previous symbols
DFN3
MANE Select transcript
ENST00000644024.2NM_000307.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Hearing Loss and Deafness

    • Prelingual Non-Syndromic Genetic Hearing Loss

      A rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition.

      • 2 GenCC submitters rate it definitive or strong
    • Nonsyndromic Genetic Hearing Loss

      One of 97 genes linked to it

      Inherited hearing loss without other medical features, including the common recessive forms caused by GJB2, OTOF, SLC26A4, STRC and many other genes, as well as dominant, X-linked and mitochondrial forms.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing the genetic cause can guide hearing support and cochlear implant decisions, gene-therapy trial eligibility (for example OTOF) and family counselling.

How POU3F4 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome X, with a bracket where POU3F4 sits. POU3F4 and 1 gene near it on chromosome X, from 83,010,209 to 84,010,208.Chromosome XXq21.1p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2883.2 Mb83.4 Mb83.6 Mb83.8 Mb84 MbPOU3F4: 83,508,290–83,512,127, forward strandPOU3F4CYLC1: 83,861,126–83,886,700, forward strandCYLC1Diagram of POU3F4: one exon on the forward strand of chromosome XExon 1: 64 known disease-causing sitesExon 1: 83,508,290–83,512,127, 3,838 bases15′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3.8 kb of the gene's 3.8 kb; 1,086 of those bases code for the protein.

How a genome test reads POU3F4

64

positions in POU3F4 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 3.8 kb of POU3F4, introns included, not only the 3.8 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). POU3F4 gene: POU class 3 homeobox 4. Retrieved 17 October 2026, from https://dantelabs.com/genes/pou3f4

Vancouver

Dante Labs. POU3F4 gene: POU class 3 homeobox 4 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pou3f4

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test