RNF17

Chr 13

ring finger protein 17

Also known as: Mmip-2, SPATA23, TDRD4

NCBI Gene: 56163 ENSG00000132972 UniProt: Q9BXT8

RNF17 encodes a RING finger domain-containing protein that regulates MYC transcriptional activity and can sequester Mad transcriptional repressors to the cytoplasm. The gene is extremely intolerant to loss-of-function variants (pLI >0.99, LOEUF 0.089), but no definitive human disease associations have been established in the current literature.

ResearchSummary from RefSeq, UniProt

This gene is similar to a mouse gene that encodes a testis-specific protein containing a RING finger domain. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, May 2010]

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

0.09

LOEUF· LoF intol.

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Mechanism

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