POU2F1

Chr 1

POU class 2 homeobox 1

Also known as: OCT1, OTF1, Oct1Z, oct-1B

NCBI Gene: 5451 ENSG00000143190 UniProt: P14859

POU2F1 encodes OCT1, a transcription factor that binds to octamer DNA sequences and activates promoters of genes including small nuclear RNAs, histone H2B, and immunoglobulins. Mutations cause autosomal dominant intellectual disability with distinctive facial features and developmental delays. This gene is highly constrained against loss-of-function variation, indicating that complete loss of protein function is likely not tolerated.

ResearchSummary from RefSeq, UniProt

The OCT1 transcription factor was among the first identified members of the POU transcription factor family (summarized by Sturm et al., 1993 [PubMed 8314572]). Members of this family contain the POU domain, a 160-amino acid region necessary for DNA binding to the octameric sequence ATGCAAAT.[supplied by OMIM, Jul 2010]

ResearchGenerating clinical summary…

Clinical highlights

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.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.34

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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