RNF125 Chromosome 18
Ring finger protein 125
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What This Gene Does
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]
Gene Info
Gene Group
Ring finger proteins
Locus Type
gene with protein product
Location
18q12.1
Ensembl
ENSG00000101695
Associated Conditions (3)
Tenorio syndrome
Inborn genetic diseases
RNF125-related disorder
Key Variants
RS201378700
Conflicting classifications of pathogenicity
Tenorio syndrome, Inborn genetic diseases, Tenorio syndrome
Health Risk
RS370242930
Conflicting classifications of pathogenicity
Tenorio syndrome, RNF125-related disorder, Tenorio syndrome
Health Risk
RS751589349
Conflicting classifications of pathogenicity
Tenorio syndrome, Tenorio syndrome
Health Risk
RS759640087
Conflicting classifications of pathogenicity
Tenorio syndrome, Inborn genetic diseases, Tenorio syndrome
Health Risk
RS979916916
Conflicting classifications of pathogenicity
RNF125-related disorder, Inborn genetic diseases, RNF125-related disorder
Health Risk
RS786201014
Pathogenic
Tenorio syndrome, Tenorio syndrome
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201378700 | Health Risk | Conflicting classifications of pathogenicity | Tenorio syndrome, Inborn genetic diseases, Tenorio syndrome |
| RS370242930 | Health Risk | Conflicting classifications of pathogenicity | Tenorio syndrome, RNF125-related disorder, Tenorio syndrome |
| RS751589349 | Health Risk | Conflicting classifications of pathogenicity | Tenorio syndrome, Tenorio syndrome |
| RS759640087 | Health Risk | Conflicting classifications of pathogenicity | Tenorio syndrome, Inborn genetic diseases, Tenorio syndrome |
| RS979916916 | Health Risk | Conflicting classifications of pathogenicity | RNF125-related disorder, Inborn genetic diseases, RNF125-related disorder |
| RS786201014 | Health Risk | Pathogenic | Tenorio syndrome, Tenorio syndrome |