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GeneE
4 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
LONRF2
LON peptidase N-terminal domain and ring finger 2
Chromosome 2 Β· 2q11.2
NCBI Gene: 164832Ensembl: ENSG00000170500.13HGNC: HGNC:24788UniProt: Q1L5Z9
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingprotein quality control for misfolded or incompletely synthesized proteinsubiquitin protein ligase activityneuron projection developmentintelligencerheumatoid arthritisalcohol drinkingmathematical ability
✦AI Summary

LONRF2 is a protein quality control ubiquitin ligase predominantly expressed in post-mitotic neurons that functions to recognize and ubiquitylate misfolded proteins 1. The protein specifically binds and targets abnormally structured TDP-43, hnRNP M1, and artificially misfolded substrates for degradation 1. LONRF2 is selectively induced in senescent post-mitotic cells, reflecting a specialized protein quality control system adapted to neurons, which cannot dilute protein aggregates through cell division 1. Loss of LONRF2 function results in age-dependent pathology: Lonrf2-deficient mice develop progressive motor neuron degeneration and cerebellar ataxia accompanied by TDP-43 accumulation 1. Motor neurons derived from LONRF2-knockout induced pluripotent stem cells show reduced survival, neurite shortening, and pathological accumulation of phosphorylated TDP-43 1. Critically, LONRF2 overexpression rescues neurite defects in motor neurons from amyotrophic lateral sclerosis patients, suggesting therapeutic potential 1. These findings establish LONRF2 as a critical neuroprotective protein quality control factor whose deficiency contributes to neurodegeneration.

Sources cited
1
LONRF2 is a protein quality control ubiquitin ligase expressed in neurons that ubiquitylates misfolded TDP-43 and other substrates; its loss causes age-dependent motor neuron degeneration and cerebellar ataxia
PMID: 37474791
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
intelligenceOpen Targets
0.41Moderate
rheumatoid arthritisOpen Targets
0.34Weak
alcohol drinkingOpen Targets
0.32Weak
mathematical abilityOpen Targets
0.31Weak
Abnormal urine sodium concentrationOpen Targets
0.31Weak
B-cell acute lymphoblastic leukemiaOpen Targets
0.31Weak
osteoarthritisOpen Targets
0.30Weak
smoking initiationOpen Targets
0.29Weak
attention deficit hyperactivity disorderOpen Targets
0.15Weak
autism spectrum disorderOpen Targets
0.14Weak
psoriasisOpen Targets
0.13Weak
gastroesophageal reflux diseaseOpen Targets
0.08Suggestive
MODYOpen Targets
0.07Suggestive
health study participationOpen Targets
0.06Suggestive
Alzheimer diseaseOpen Targets
0.05Suggestive
maturity-onset diabetes of the young type 3Open Targets
0.05Suggestive
diabetes mellitus, permanent neonatal 4Open Targets
0.05Suggestive
maturity-onset diabetes of the young type 10Open Targets
0.04Suggestive
maturity-onset diabetes of the young type 13Open Targets
0.04Suggestive
permanent neonatal diabetes mellitus 1Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
GPRIN3Shared pathway33%GPRIN1Shared pathway33%GPRIN2Shared pathway33%ZNF212Shared pathway33%SAYSD1Shared pathway25%CDNFShared pathway25%
Tissue Expression6 tissues
Ovary
100%
Heart
70%
Brain
67%
Lung
7%
Liver
6%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
LONRF2GPRIN3GPRIN1GPRIN2ZNF212SAYSD1CDNF
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q1L5Z9
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.92LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.69 [0.52–0.92]
RankingsWhere LONRF2 stands among ~20K protein-coding genes
  • #13,945of 20,598
    Most Researched21
  • #8,387of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedLONRF2
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
LONRF2 is a protein quality control ubiquitin ligase whose deficiency causes late-onset neurological deficits.
PMID: 37474791
Nat Aging Β· 2023
1.00
2
Identification of miRNAs and target genes associated with lymph node metastasis in cervical cancer using bioinformatics analysis.
PMID: 37125668
Toxicol Mech Methods Β· 2023
0.75
3
Abnormal expression of mRNA, microRNA alteration and aberrant DNA methylation patterns in rectal adenocarcinoma.
PMID: 28350845
PLoS One Β· 2017
0.50
4
Disordered APC/C-mediated cell cycle progression and IGF1/PI3K/AKT signalling are the potential basis of Sertoli cell-only syndrome.
PMID: 30995700
Andrologia Β· 2019
0.25