RNF4

Chr 4

ring finger protein 4

Also known as: RES4-26, SLX5, SNURF

NCBI Gene: 6047 ENSG00000063978 UniProt: P78317 OMIM: 602850

RNF4 encodes an E3 ubiquitin-protein ligase that targets polysumoylated proteins for proteasomal degradation and regulates chromosome alignment, spindle assembly, and cellular responses to stress. The gene is highly constrained against loss-of-function variants (LOEUF 0.49), but no established human disease associations have been reported in the provided data. Clinical significance of RNF4 variants in pediatric neurology remains to be determined.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene contains a RING finger motif and acts as a transcription regulator. This protein has been shown to interact with, and inhibit the activity of, TRPS1, a transcription suppressor of GATA-mediated transcription. Transcription repressor ZNF278/PATZ is found to interact with this protein, and thus reduce the enhancement of androgen receptor-dependent transcription mediated by this protein. Studies of the mouse and rat counterparts suggested a role of this protein in spermatogenesis. A pseudogene of this gene is found on chromosome 1.[provided by RefSeq, Jul 2010]

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

0.49

LOEUF

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Mechanism