RNF38

Chr 9

ring finger protein 38

NCBI Gene: 152006 ENSG00000137075 UniProt: Q9H0F5

The protein functions as an E3 ubiquitin-protein ligase that ubiquitinates p53, promoting its relocalization to nuclear bodies. Mutations cause autosomal recessive neurodevelopmental disorder with seizures and brain atrophy, typically presenting in infancy with developmental delay and epilepsy. The disorder follows autosomal recessive inheritance.

ResearchSummary from RefSeq, UniProt

This gene encodes a protein with a coiled-coil motif and a RING-H2 motif (C3H2C2) at its carboxy-terminus. The RING motif is a zinc-binding domain found in a large set of proteins playing roles in diverse cellular processes including oncogenesis, development, signal transduction, and apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

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

0.14

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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