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: 1203
MIM: 608102
HGNC: 2076
Ensembl: ENSG00000102805
Variants:
dbSNP: 1203
ClinVar: 1203
TCGA: ENSG00000102805
COSMIC: CLN5
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Lysosome | KEGG | ko04142 |
| Lysosome | KEGG | hsa04142 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36368077 | 2023 | Lysosomal dysfunction, autophagic defects, and CLN5 accumulation underlie the pathogenesis of KCTD7-mutated neuronal ceroid lipofuscinoses. | 1 |
| 37708259 | 2023 | The Batten disease gene product CLN5 is the lysosomal bis(monoacylglycero)phosphate synthase. | 3 |
| 36368077 | 2023 | Lysosomal dysfunction, autophagic defects, and CLN5 accumulation underlie the pathogenesis of KCTD7-mutated neuronal ceroid lipofuscinoses. | 1 |
| 37708259 | 2023 | The Batten disease gene product CLN5 is the lysosomal bis(monoacylglycero)phosphate synthase. | 3 |
| 35427157 | 2022 | Cln5 represents a new type of cysteine-based S-depalmitoylase linked to neurodegeneration. | 4 |
| 35427157 | 2022 | Cln5 represents a new type of cysteine-based S-depalmitoylase linked to neurodegeneration. | 4 |
| 33507209 | 2021 | Association of the Recurrent Rare Variant c.415T>C p.Phe139Leu in CLN5 With a Recessively Inherited Macular Dystrophy. | 4 |
| 34680045 | 2021 | Deficiency of the Lysosomal Protein CLN5 Alters Lysosomal Function and Movement. | 11 |
| 33507209 | 2021 | Association of the Recurrent Rare Variant c.415T>C p.Phe139Leu in CLN5 With a Recessively Inherited Macular Dystrophy. | 4 |
| 34680045 | 2021 | Deficiency of the Lysosomal Protein CLN5 Alters Lysosomal Function and Movement. | 11 |
| 32302805 | 2020 | Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis. | 1 |
| 32393339 | 2020 | A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5. | 3 |
| 32487141 | 2020 | CLN5 in heterozygosis may protect against the development of tumors in a VHL patient. | 4 |
| 32302805 | 2020 | Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis. | 1 |
| 32393339 | 2020 | A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5. | 3 |
Citation
Dessen P
CLN5 (CLN5 intracellular trafficking protein)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54219/cln5-(cln5-intracellular-trafficking-protein)
