PKNOX2

Chr 11

PBX/knotted 1 homeobox 2

Also known as: PREP2

NCBI Gene: 63876 ENSG00000165495 UniProt: Q96KN3

PKNOX2 encodes a homeodomain transcription factor that binds DNA in a sequence-specific manner to regulate cell proliferation, differentiation, and death. Mutations cause autosomal dominant intellectual disability with microcephaly and seizures, typically presenting in early childhood. The gene is highly constrained against loss-of-function mutations (pLI 0.99, LOEUF 0.27), indicating intolerance to protein truncation.

ResearchSummary from RefSeq

Homeodomain proteins are sequence-specific transcription factors that share a highly conserved DNA-binding domain and play fundamental roles in cell proliferation, differentiation, and death. PKNOX2 belongs to the TALE (3-amino acid loop extension) class of homeodomain proteins characterized by a 3-amino acid extension between alpha helices 1 and 2 within the homeodomain (Imoto et al., 2001 [PubMed 11549286]).[supplied by OMIM, Oct 2009]

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

0.27

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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