ZHX2

Chr 8

zinc fingers and homeoboxes 2

Also known as: AFR1, RAF

NCBI Gene: 22882 ENSG00000178764 UniProt: Q9Y6X8 OMIM: 609185

ZHX2 encodes a nuclear transcriptional repressor containing zinc fingers and homeobox DNA-binding domains that regulates gene expression during neural and retinal development, particularly promoting bipolar OFF-type cell differentiation in the retina and maintaining neural progenitor cells in the developing cortex. Mutations in ZHX2 cause neurodevelopmental disorders with autosomal dominant inheritance. The gene shows moderate constraint against loss-of-function variants (LOEUF = 0.518), suggesting some tolerance to protein-truncating mutations.

OMIM ResearchSummary from RefSeq, UniProt

The members of the zinc fingers and homeoboxes gene family are nuclear homodimeric transcriptional repressors that interact with the A subunit of nuclear factor-Y (NF-YA) and contain two C2H2-type zinc fingers and five homeobox DNA-binding domains. This gene encodes member 2 of this gene family. In addition to forming homodimers, this protein heterodimerizes with member 1 of the zinc fingers and homeoboxes family. [provided by RefSeq, Jul 2008]

OMIM 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

0.52

LOEUF

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Mechanism