POU3F3

Chr 2q12.1

POU class 3 homeobox 3

Aliases:: BRN1, OTF8
MANE:: ENST00000361360.4

OMIM: 602480 ↗NCBI: 5455 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

POU3F3 · P20264

v62025-08-01

Predicted Aligned Error matrix for POU3F3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

56.2/ 100

Low

500 residues

Confidence breakdown

Very high(≥ 90)20%
Confident(70–90)6%
Low(50–70)14%
Very low(< 50)60%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

Snijders Blok-Fisher syndrome
0.71
Intellectual disability
0.59
hereditary disease
0.52
Abnormality of the skeletal system
0.39
Global developmental delay
0.37
Delayed speech and language development
0.37
Generalized hypotonia
0.37
intellectual disability, autosomal dominant 40
0.37
complex neurodevelopmental disorder
0.37
Autistic behavior
0.37

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

Protein function (UniProt)

POU domain, class 3, transcription factor 3

Transcription factor that acts synergistically with SOX11 and SOX4. Plays a role in neuronal development (PubMed:31303265). Is implicated in an enhancer activity at the embryonic met-mesencephalic junction; the enhancer element contains the octamer motif (5'-ATTTGCAT-3') (By similarity)