RNF138

Chr 18

ring finger protein 138

Also known as: HSD-4, NARF, STRIN, hNARF

NCBI Gene: 51444 ENSG00000134758 UniProt: Q8WVD3 OMIM: 616319

This E3 ubiquitin-protein ligase promotes DNA double-strand break repair through homologous recombination and regulates Wnt/beta-catenin signaling pathways. Mutations cause autosomal recessive intellectual disability with growth retardation, typically presenting in early childhood. The gene shows significant constraint against loss-of-function variants (LOEUF 0.51), indicating that complete loss of protein function is poorly tolerated.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [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

0.51

LOEUF

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Mechanism