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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RNF130
ring finger protein 130
Chromosome 5 · 5q35.3
NCBI Gene: 55819Ensembl: ENSG00000113269.14HGNC: HGNC:18280UniProt: E5RI87
30PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingubiquitin-protein transferase activitycytoplasmprogrammed cell deathneurodegenerative diseaseosteoarthritis, hipbone remodeling diseaseinsomnia
✦AI Summary

RNF130 (ring finger protein 130) is an E3 ubiquitin-protein ligase that plays diverse roles in cellular regulation and disease pathogenesis. As a member of the PA-TM-RING-type transmembrane E3 ligase family, RNF130 facilitates ubiquitin-dependent protein degradation and can be targeted for therapeutic protein degradation strategies 1. The protein demonstrates significant involvement in tau protein homeostasis, where its knockdown reduces tau levels and rescues disease phenotypes in tauopathy mouse models, suggesting therapeutic potential for Alzheimer's disease and related disorders 2. In multiple myeloma, RNF130 serves as the host gene for tumor suppressor miR-340-5p, with promoter methylation leading to silencing of both RNF130 and miR-340-5p expression, correlating with poor patient survival 3. Recent studies identify RNF130 as overexpressed in triple-negative breast cancer, where it promotes tumor progression through TNF-α pathway activation and contributes to immune evasion 4. Additionally, RNF130 functions in lipid metabolism by regulating low-density lipoprotein receptor degradation 5. Genetic variants in RNF130 are associated with sarcopenic obesity susceptibility 6, and the gene shows SOX10-mediated regulation in enteric glial cells with potential relevance to multiple sclerosis 7.

Sources cited
1
RNF130 is a PA-TM-RING-type transmembrane E3 ubiquitin ligase that can be targeted for therapeutic protein degradation
PMID: 37011906
2
RNF130 knockdown reduces tau levels and rescues disease phenotypes in tauopathy mouse models
PMID: 36610398
3
RNF130 hosts tumor suppressor miR-340-5p, with methylation silencing both genes and correlating with poor survival in multiple myeloma
PMID: 31064412
4
RNF130 is overexpressed in triple-negative breast cancer and promotes tumor progression through TNF-α pathway activation
PMID: 41580768
5
RNF130 functions in lipid metabolism by regulating low-density lipoprotein receptor degradation
PMID: 39700747
6
Genetic variants in RNF130 are associated with sarcopenic obesity susceptibility
PMID: 38267387
7
RNF130 shows SOX10-mediated regulation in enteric glial cells with potential relevance to multiple sclerosis
PMID: 39982575
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
osteoarthritis, hipOpen Targets
0.28Weak
bone remodeling diseaseOpen Targets
0.25Weak
insomniaOpen Targets
0.25Weak
neoplasmOpen Targets
0.12Weak
infectionOpen Targets
0.11Weak
breast cancerOpen Targets
0.08Suggestive
melanomaOpen Targets
0.08Suggestive
systemic lupus erythematosusOpen Targets
0.08Suggestive
Alzheimer diseaseOpen Targets
0.07Suggestive
multiple myelomaOpen Targets
0.06Suggestive
ovarian cancerOpen Targets
0.05Suggestive
chronic myelogenous leukemiaOpen Targets
0.05Suggestive
depressive disorderOpen Targets
0.04Suggestive
Combined hyperlipidemiaOpen Targets
0.04Suggestive
type 2 diabetes mellitusOpen Targets
0.04Suggestive
obstructive sleep apneaOpen Targets
0.04Suggestive
hypertriglyceridemia 2Open Targets
0.04Suggestive
head and neck squamous cell carcinomaOpen Targets
0.04Suggestive
diabetes mellitusOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FAM131BProtein interaction76%RNF148Shared pathway50%RNF149Shared pathway50%RNF215Shared pathway50%RNF217Shared pathway50%ARK2NShared pathway50%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
81%
Brain
79%
Lung
53%
Ovary
46%
Heart
35%
Gene Interaction Network
Click a node to explore
RNF130FAM131BRNF148RNF149RNF215RNF217ARK2N
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q2HIY3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.76LoF Tolerant
pLIⓘ
0.03Tolerant
Observed/Expected LoF0.48 [0.32–0.76]
RankingsWhere RNF130 stands among ~20K protein-coding genes
  • #12,026of 20,598
    Most Researched30
  • #6,047of 17,882
    Most Constrained (LOEUF)0.76
Genes detectedRNF130
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Receptor Elimination by E3 Ubiquitin Ligase Recruitment (REULR): A Targeted Protein Degradation Toolbox.
PMID: 37011906
ACS Synth Biol · 2023
1.00
2
Evolutionarily conserved regulators of tau identify targets for new therapies.
PMID: 36610398
Neuron · 2023
0.90
3
Epigenetic silencing of miR-340-5p in multiple myeloma: mechanisms and prognostic impact.
PMID: 31064412
Clin Epigenetics · 2019
0.80
4
Phase II trial of imatinib mesylate in patients with PDGFRA/B-negative hypereosinophilic syndrome.
PMID: 39389908
Br J Haematol · 2024
0.70
5
Single-cell transcriptomics uncover RNF130-mediated TNF-α pathway activation and worenine synergy with paclitaxel in breast cancer.
PMID: 41580768
Clin Epigenetics · 2026
0.60