POU3F3

Chr 2

POU class 3 homeobox 3

Also known as: BRN1, OTF8, SNIBFIS, brain-1, oct-8

NCBI Gene: 5455 ENSG00000198914 UniProt: P20264

This transcription factor recognizes octamer DNA sequences and plays a role in neuronal development, acting synergistically with SOX11 and SOX4. Mutations cause Snijders Blok-Fisher syndrome with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (pLI 0.88, LOEUF 0.43), reflecting its critical role in nervous system development.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a POU-domain containing protein that functions as a transcription factor. The encoded protein recognizes an octamer sequence in the DNA of target genes. This protein may play a role in development of the nervous system. [provided by RefSeq, Apr 2015]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSnijders Blok-Fisher syndrome

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder · 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.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.43

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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