RNF125 — ring finger protein 125

5 sources retrieved · Most recent: April 2026 · Index updated 3 months ago

41PubMed Papers

#10,047 · top 52% of 19K genes

21Diseases

top 21%

0Drugs

2Pathogenic Variants

top 81%

OMIM Disease GeneExperimental GO EvidenceSwiss-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 — This gene has 0 indexed publications. Summary and analysis may be incomplete.

Disease Associations21

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

★☆☆☆2024→ Residue 153

NM_017831.4(RNF125):c.336G>A (p.Met112Ile)Pathogenic

Tenorio syndrome

☆☆☆☆2014→ Residue 112

Tissue Expression6 tissues

Bone Marrow

100%

Liver

23%

Lung

13%

Heart

12%

Brain

10%

Ovary

Gene Interaction Network6 neighbors

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Structure3 PDB hits

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PDB5DKA · 1.55 Å · X-ray

View on RCSB

ConstraintgnomAD v4.1

LOEUFⓘ

1.07LoF Tolerant

pLIⓘ

0.20Tolerant

Observed/Expected LoF0.47 [0.23–1.07]

Rankings3 dim

Where RNF125 stands among ~20K protein-coding genes

#10,073of 20,598
Most Researched41
#4,508of 5,520
Most Pathogenic Variants2
#10,823of 17,882
Most Constrained (LOEUF)1.07