RNF114

Chr 20

ring finger protein 114

Also known as: PSORS12, ZNF313

NCBI Gene: 55905 ENSG00000124226 UniProt: Q9Y508 OMIM: 612451

The protein functions as an E3 ubiquitin ligase that regulates multiple cellular processes including cell cycle progression, immune responses, and NF-kappa-B signaling by promoting ubiquitination and degradation of various target proteins. Pathogenic variants in RNF114 cause autosomal recessive intellectual disability with microcephaly, seizures, and spasticity, typically presenting in infancy with developmental delays and neurological symptoms. The gene shows relatively low constraint to loss-of-function variants, consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in protein polyubiquitination and ubiquitin-dependent protein catabolic process. Located in cytosol. Biomarker of male infertility. [provided by Alliance of Genome Resources, Jun 2026]

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

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P/LP missense

0.80

LOEUF

GOF

Mechanism· predicted