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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RUBCN
rubicon autophagy regulator
Chromosome 3 Β· 3q29
NCBI Gene: 9711Ensembl: ENSG00000145016.17HGNC: HGNC:28991UniProt: A0A9L9PY84
67PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
Golgi apparatusprotein bindingphosphatidylinositol 3-kinase inhibitor activitynegative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transductionautosomal recessive spinocerebellar ataxia 15Intellectual disabilityHypotoniaEpileptic encephalopathy with global cerebral demyelination
✦AI Summary

RUBCN (rubicon autophagy regulator) is a negative regulator of autophagosome maturation that plays dual roles in innate immunity. During bacterial infection, RUBCN promotes antimicrobial responses by stabilizing the CYBA:CYBB NADPH oxidase complex and increasing its association with TLR2, thereby enhancing ROS production and inflammatory cytokine release 1. Conversely, during fungal or viral infection, RUBCN negatively regulates pro-inflammatory cytokine production by sequestering CARD9 from signaling complexes 2. RUBCN functions mechanistically through interactions with key autophagy regulators including BECN1, PIK3C3/VPS34, and UVRAG 3. Recent evidence reveals that RUBCN lactylation at lysine 33 regulates LC3-associated phagocytosis and bacterial defense, with lactate metabolism modulating this process 4. RUBCN deficiency in hepatocytes impairs autophagy flux and promotes hepatic lipid accumulation, highlighting its pathogenic role in nonalcoholic fatty liver disease 5. In kidney proximal tubular epithelial cells, RUBCN deficiency paradoxically increases autophagic flux while causing metabolic syndrome features 6. RUBCN is associated with spinocerebellar ataxia type 15, an autosomal recessive disorder 7. Functionally, RUBCN negatively regulates autophagosome-lysosome fusion and phosphatidylinositol 3-kinase signaling, positioning it as a critical checkpoint in autophagy and immune responses.

Sources cited
1
RUBCN promotes NADPH oxidase activity and ROS production during bacterial infection through stabilizing CYBA:CYBB complex and enhancing TLR2 association
PMID: 22423966
2
RUBCN negatively regulates pro-inflammatory cytokine production during fungal/viral infection by sequestering CARD9
PMID: 22423967
3
RUBCN interacts with BECN1, PIK3C3, and UVRAG to regulate autophagosome maturation; UVRAG ubiquitination decreases RUBCN binding and promotes autophagy
PMID: 30686098
4
RUBCN lactylation at lysine 33 regulates LC3-associated phagocytosis and antibacterial defense through the PDCD6-LDHA-lactate-RUBCN axis
PMID: 39578445
5
RUBCN inhibits autophagy and promotes hepatocyte apoptosis and lipid accumulation in nonalcoholic fatty liver disease
PMID: 27637015
6
RUBCN deficiency in kidney proximal tubular epithelial cells causes sustained high autophagic flux and metabolic syndrome with phospholipid mobilization to lysosomes
PMID: 31944172
7
RUBCN is associated with spinocerebellar ataxia type 15, an autosomal recessive disorder
PMID: 30237576
Disease Associationsβ“˜21
autosomal recessive spinocerebellar ataxia 15Open Targets
0.62Moderate
Elbow flexion contractureOpen Targets
0.42Moderate
Epileptic encephalopathy with global cerebral demyelinationOpen Targets
0.42Moderate
Global developmental delayOpen Targets
0.42Moderate
HypotoniaOpen Targets
0.42Moderate
Intellectual disabilityOpen Targets
0.42Moderate
Knee flexion contractureOpen Targets
0.42Moderate
NystagmusOpen Targets
0.42Moderate
nervous system diseaseOpen Targets
0.30Weak
spinocerebellar ataxia type 15/16Open Targets
0.27Weak
systemic lupus erythematosusOpen Targets
0.09Suggestive
autoimmune diseaseOpen Targets
0.06Suggestive
Alzheimer diseaseOpen Targets
0.06Suggestive
rheumatoid arthritisOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.05Suggestive
Severe combined immunodeficiency due to adenosine deaminase deficiencyOpen Targets
0.05Suggestive
autoimmune disease, multisystem, infantile-onset, 2Open Targets
0.05Suggestive
infectionOpen Targets
0.05Suggestive
immunodeficiency 64Open Targets
0.04Suggestive
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndromeOpen Targets
0.04Suggestive
Spinocerebellar ataxia, autosomal recessive, 15UniProt
Pathogenic Variants5
NM_014687.4(RUBCN):c.1358-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_014687.4(RUBCN):c.2624del (p.Ala875fs)Pathogenic
Autosomal recessive spinocerebellar ataxia 15
β˜…β˜†β˜†β˜†2024β†’ Residue 875
NM_014687.4(RUBCN):c.2647-2A>GPathogenic
Autosomal recessive spinocerebellar ataxia 15
β˜…β˜†β˜†β˜†2024
NM_014687.4(RUBCN):c.1553dup (p.Glu519fs)Likely pathogenic
Spinocerebellar ataxia type 15/16
β˜…β˜†β˜†β˜†2023β†’ Residue 519
NM_014687.4(RUBCN):c.1847+2T>GLikely pathogenic
Autosomal recessive spinocerebellar ataxia 15
β˜…β˜†β˜†β˜†2023
View on ClinVar β†—
Related Genes
PIK3R4Protein interaction100%AMBRA1Protein interaction100%PIK3C3Protein interaction98%UVRAGProtein interaction98%BECN1Protein interaction98%ATG14Protein interaction98%
Tissue Expression6 tissues
Brain
100%
Lung
94%
Ovary
86%
Heart
81%
Bone Marrow
79%
Liver
46%
Gene Interaction Network
Click a node to explore
RUBCNPIK3R4AMBRA1PIK3C3UVRAGBECN1ATG14
PROTEIN STRUCTURE
Preparing viewer…
PDB6WCW Β· 2.80 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.77LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.63 [0.51–0.77]
RankingsWhere RUBCN stands among ~20K protein-coding genes
  • #7,013of 20,598
    Most Researched67
  • #3,553of 5,498
    Most Pathogenic Variants5
  • #6,227of 17,882
    Most Constrained (LOEUF)0.77
Genes detectedRUBCN
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Acetylation in the regulation of autophagy.
PMID: 35435793
Autophagy Β· 2023
1.00
2
Ubiquitination of UVRAG by SMURF1 promotes autophagosome maturation and inhibits hepatocellular carcinoma growth.
PMID: 30686098
Autophagy Β· 2019
0.90
3
PDCD6 regulates lactate metabolism to modulate LC3-associated phagocytosis and antibacterial defense.
PMID: 39578445
Nat Commun Β· 2024
0.80
4
Metabolic effects of RUBCN/Rubicon deficiency in kidney proximal tubular epithelial cells.
PMID: 31944172
Autophagy Β· 2020
0.70
5
Autozygome and high throughput confirmation of disease genes candidacy.
PMID: 30237576
Genet Med Β· 2019
0.60