RNF216

Chr 7

ring finger protein 216

Also known as: CAHH, TRIAD3, U7I1, UBCE7IP1, ZIN

This gene encodes a cytoplasmic protein which specifically colocalizes and interacts with the serine/threonine protein kinase, receptor-interacting protein (RIP). Zinc finger domains of the encoded protein are required for its interaction with RIP and for inhibition of TNF- and IL1-induced NF-kappa B activation pathways. The encoded protein may also function as an E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes and transfers it to substrates. Several alternatively spliced transcript variants have been described for this locus but the full-length natures of only some are known. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtGordon Holmes syndrome
0
Active trials
15
Pubs (1 yr)
P/LP submissions
P/LP missense
0.55
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.55LOEUF
pLI 0.000
Z-score 4.11
OE 0.38 (0.260.55)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
-1.23Z-score
OE missense 1.15 (1.081.23)
598 obs / 519.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.38 (0.260.55)
00.351.4
Missense OE?1.15 (1.081.23)
00.61.4
Synonymous OE?1.30
01.21.6
LoF obs/exp: 19 / 50.6Missense obs/exp: 598 / 519.0Syn Z: -3.25

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

RNF216 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →