Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1201
MIM: 607042
HGNC: 2074
Ensembl: ENSG00000261832
Variants:
dbSNP: 1201
ClinVar: 1201
TCGA: ENSG00000261832
COSMIC: CLN3
RNA/Proteins
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Lysosome | KEGG | ko04142 |
| Lysosome | KEGG | hsa04142 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38195117 | 2024 | CLN3 deficiency leads to neurological and metabolic perturbations during early development. | 2 |
| 38195117 | 2024 | CLN3 deficiency leads to neurological and metabolic perturbations during early development. | 2 |
| 36965618 | 2023 | The Batten disease protein CLN3 is important for stress granules dynamics and translational activity. | 1 |
| 37400440 | 2023 | Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation. | 7 |
| 36965618 | 2023 | The Batten disease protein CLN3 is important for stress granules dynamics and translational activity. | 1 |
| 37400440 | 2023 | Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation. | 7 |
| 34964690 | 2022 | Converging roles of PSENEN/PEN2 and CLN3 in the autophagy-lysosome system. | 7 |
| 36131016 | 2022 | CLN3 is required for the clearance of glycerophosphodiesters from lysosomes. | 29 |
| 34964690 | 2022 | Converging roles of PSENEN/PEN2 and CLN3 in the autophagy-lysosome system. | 7 |
| 36131016 | 2022 | CLN3 is required for the clearance of glycerophosphodiesters from lysosomes. | 29 |
| 33497524 | 2021 | Gene correction of the CLN3 c.175G>A variant in patient-derived induced pluripotent stem cells prevents pathological changes in retinal organoids. | 10 |
| 33507216 | 2021 | Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort. | 18 |
| 33547385 | 2021 | A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor-RPE interface. | 13 |
| 33559393 | 2021 | Characterizing upper limb function in the context of activities of daily living in CLN3 disease. | 1 |
| 33737578 | 2021 | Global network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease. | 8 |
Citation
Dessen P
CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56249/cln3-(cln3-lysosomal-endosomal-transmembrane-protein-battenin)
