RNF125

Chr 18

ring finger protein 125

Also known as: TNORS, TRAC-1, TRAC1

This gene encodes a novel E3 ubiquitin ligase that contains a RING finger domain in the N-terminus and three zinc-binding and one ubiquitin-interacting motif in the C-terminus. As a result of myristoylation, this protein associates with membranes and is primarily localized to intracellular membrane systems. The encoded protein may function as a positive regulator in the T-cell receptor signaling pathway. [provided by RefSeq, Mar 2012]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtTenorio syndrome
0
Active trials
19
Pubs (1 yr)
P/LP submissions
P/LP missense
1.28
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.28LOEUF
pLI 0.000
Z-score 0.89
OE 0.71 (0.421.28)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.78Z-score
OE missense 0.81 (0.690.95)
109 obs / 134.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.71 (0.421.28)
00.351.4
Missense OE?0.81 (0.690.95)
00.61.4
Synonymous OE?0.94
01.21.6
LoF obs/exp: 8 / 11.2Missense obs/exp: 109 / 134.6Syn Z: 0.35

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

RNF125 · 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.

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