POU3F4

Chr Xq21.1

POU class 3 homeobox 4

Aliases:: BRN4, OTF9, DFNX2
MANE:: ENST00000644024.2

OMIM: 300039 ↗NCBI: 5456 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

POU3F4 · P49335

v62025-08-01

Predicted Aligned Error matrix for POU3F4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

63.3/ 100

Low

361 residues

Confidence breakdown

Very high(≥ 90)30%
Confident(70–90)7%
Low(50–70)13%
Very low(< 50)50%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Monogenic hearing loss
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

X-linked mixed deafness with perilymphatic gusher
0.77
X-linked mixed hearing loss with perilymphatic gusher
0.77
Rare genetic deafness
0.51
nonsyndromic genetic hearing loss
0.50
X-linked nonsyndromic hearing loss
0.46
Non-syndromic genetic deafness
0.39
Choroideremia - deafness - obesity
0.39
Mitochondrial non-syndromic sensorineural deafness
0.38
hearing loss disorder
0.38
ear malformation
0.28

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

Protein function (UniProt)

POU domain, class 3, transcription factor 4

Probable transcription factor which exert its primary action widely during early neural development and in a very limited set of neurons in the mature brain