ZNF503

Chr 10

zinc finger protein 503

Also known as: NOLZ-1, NOLZ1, Nlz2, ZEPPO2, ZPO2

NCBI Gene: 84858 ENSG00000165655 UniProt: Q96F45 OMIM: 613902

ZNF503 encodes a zinc finger transcriptional repressor that regulates cell cycle progression and gene expression in the nucleus. Mutations cause autosomal dominant intellectual disability with seizures and dysmorphic features, typically presenting in early childhood. This gene is highly constrained against loss-of-function variants, indicating that functional copies are critical for normal development.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable zinc ion binding activity. Involved in G1 to G0 transition involved in cell differentiation; negative regulation of cell population proliferation; and negative regulation of gene expression. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

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)

—

P/LP submissions

—

P/LP missense

0.35

LOEUF· LoF intol.

LOF

Mechanism· predicted