AlphaFold predicted structure
RNF216 · Q9NWF9
Mean pLDDT
62.6/ 100
Low
866 residues
Confidence breakdown
- Very high(≥ 90)14%
- Confident(70–90)36%
- Low(50–70)4%
- Very low(< 50)46%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
RNF216
Chr 7p22.1ring finger protein 216
- Aliases:
- TRIAD3, UBCE7IP1, ZIN
- MANE:
- ENST00000389902.8
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Adult onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomalAdult onset leukodystrophy
BIALLELIC, autosomal or pseudoautosomalAdult onset neurodegenerative disorder
BIALLELIC, autosomal or pseudoautosomalAtaxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalHereditary ataxia
BIALLELIC, autosomal or pseudoautosomalHereditary ataxia with onset in adulthood
BIALLELIC, autosomal or pseudoautosomalHypogonadotropic hypogonadism (GMS)
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
+1 more panels — install the extension to see the full list inline on any page.
Disease associations (Open Targets)
Cerebellar ataxia - hypogonadism
0.79cerebellar ataxia-hypogonadism syndrome
0.74hypothyroidism
0.36mathematical ability
0.32hypogonadotropic hypogonadism
0.26leukodystrophy
0.26rheumatoid arthritis
0.24Hypoxemia
0.22asphyxia
0.22asthma
0.22
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
E3 ubiquitin-protein ligase RNF216
E3 ubiquitin ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their ubiquitination (PubMed:34998453). Plays a role in the regulation of antiviral responses by promoting the degradation of TRAF3, TLR4 and TLR9 (PubMed:15107846, PubMed:19893624). In turn, down-regulates NF-kappa-B and IRF3 activation as well as beta interferon production. Also participates in the regulation of autophagy by ubiquitinating BECN1 leading to its degradation and autophagy inhibition (PubMed:25484083). Plays a role in ARC-dependent synaptic plasticity by mediating ARC ubiquitination resulting in its rapid proteasomal degradation (PubMed:24945773). Plays aso an essential role in spermatogenesis and male fertility (By similarity). Mechanistically, regulates meiosis by promoting the degradation of PRKACB through the ubiquitin-mediated lysosome pathway (By similarity). Modulates the gonadotropin-releasing hormone signal pathway by affecting the stability of STAU2 that is required for the microtubule-dependent transport of neuronal RNA from the cell body to the dendrite (By similarity)