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GeneE
0 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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RNF125
ring finger protein 125
Chromosome 18 Β· 18q12.1
NCBI Gene: 54941Ensembl: ENSG00000101695.10HGNC: HGNC:21150UniProt: A0ABB0MVB3
41PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
Golgi apparatusintracellular membrane-bounded organelleVCP-NPL4-UFD1 AAA ATPase complexzinc ion bindingTenorio syndromeIntellectual disabilityChronic Obstructive Asthmagenetic disorder
✦AI Summary

AI summary not yet available. Showing NCBI Gene summary.

ring finger protein 125

⚠Limited data available β€” This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
Tenorio syndromeOpen Targets
0.74Strong
Intellectual disabilityOpen Targets
0.37Weak
Chronic Obstructive AsthmaOpen Targets
0.31Weak
genetic disorderOpen Targets
0.19Weak
hypertrophic cardiomyopathyOpen Targets
0.12Weak
neoplasmOpen Targets
0.10Weak
hepatocellular carcinomaOpen Targets
0.09Suggestive
lung adenocarcinomaOpen Targets
0.08Suggestive
asthmaOpen Targets
0.08Suggestive
Crigler-Najjar syndrome type 2Open Targets
0.06Suggestive
melanomaOpen Targets
0.06Suggestive
maple syrup urine disease, mild variantOpen Targets
0.06Suggestive
sarcosinemiaOpen Targets
0.06Suggestive
schizophreniaOpen Targets
0.06Suggestive
vertebral disorderOpen Targets
0.05Suggestive
transient familial neonatal hyperbilirubinemiaOpen Targets
0.05Suggestive
methylmalonic acidemia due to transcobalamin receptor defectOpen Targets
0.05Suggestive
Methylmalonic aciduria due to transcobalamin receptor defectOpen Targets
0.05Suggestive
gluthathione peroxidase deficiencyOpen Targets
0.04Suggestive
Rotor syndromeOpen Targets
0.04Suggestive
Tenorio syndromeUniProt
Pathogenic Variants2
NM_017831.4(RNF125):c.458T>G (p.Leu153Trp)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 153
NM_017831.4(RNF125):c.336G>A (p.Met112Ile)Pathogenic
Tenorio syndrome
β˜†β˜†β˜†β˜†2014β†’ Residue 112
View on ClinVar β†—
Related Genes
IFIH1Protein interaction98%UBE2D1Protein interaction91%UBE2L6Protein interaction85%TRIM25Protein interaction83%CSProtein interaction82%MAVSProtein interaction82%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
23%
Lung
13%
Heart
12%
Brain
10%
Ovary
5%
Gene Interaction Network
Click a node to explore
RNF125IFIH1UBE2D1UBE2L6TRIM25CSMAVS
PROTEIN STRUCTURE
Preparing viewer…
PDB5DKA Β· 1.55 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.07LoF Tolerant
pLIβ“˜
0.20Tolerant
Observed/Expected LoF0.47 [0.23–1.07]
RankingsWhere RNF125 stands among ~20K protein-coding genes
  • #10,073of 20,598
    Most Researched41
  • #4,464of 5,498
    Most Pathogenic Variants2
  • #10,823of 17,882
    Most Constrained (LOEUF)1.07
Genes detectedRNF125
Sources retrieved0 papers
Response timeβ€”