CLN5
CLN5, Intracellular Trafficking Protein
Gene Information Card
| Symbol | CLN5 |
|---|---|
| Full Name | CLN5, intracellular trafficking protein |
| Gene Type | Protein coding |
| Chromosomal Location | 13q22.3 |
| NCBI Gene ID | 1203 ncbi.nlm.nih.gov/gene/1203 |
| Ensembl ID | ENSG00000102805 |
| UniProt ID | O75503 |
| OMIM ID | 608102 |
| HGNC ID | 2076 |
| Aliases | ceroid-lipofuscinosis, neuronal 5, variant late infantile (Jansky-Bielschowsky disease); FLJ20521; MGC142077 |
Description
The CLN5 gene encodes a soluble lysosomal protein involved in intracellular trafficking and lysosomal function. Mutations in this gene cause neuronal ceroid lipofuscinosis type 5 (CLN5 disease), a rare autosomal recessive neurodegenerative disorder characterized by progressive vision loss, motor decline, seizures, and premature death. The CLN5 protein is thought to play a role in lysosomal protein sorting and degradation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuronal ceroid lipofuscinosis 5 (CLN5 disease) | Loss-of-function mutations in CLN5 lead to accumulation of autofluorescent lipopigments in lysosomes, causing neurodegeneration. | ClinVar, OMIM |
| Batten disease (variant late infantile) | CLN5 mutations cause a subtype of Batten disease with similar pathophysiology. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 3.2 | Low |
| Heart | 2.1 | Low |
| Liver | 1.8 | Low |
| Kidney | 2.5 | Low |
| Lung | 1.9 | Low |
| Spleen | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 2.8 | Embryonic kidney cells |
| SH-SY5Y | 3.1 | Neuroblastoma cell line |
| HeLa | 2.5 | Cervical carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1175_1176delAT | Frameshift | Reported in CLN5 patients | Loss of function |
| c.225G>A (p.Trp75*) | Nonsense | Reported in CLN5 patients | Loss of function |
| c.1A>G (p.Met1?) | Start loss | Reported in CLN5 patients | Loss of function |
| c.835C>T (p.Arg279*) | Nonsense | Reported in CLN5 patients | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most CLN5 mutations are loss-of-function, leading to reduced or absent protein activity and lysosomal dysfunction.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CLN5.
Dominant Negative (DN)
No dominant-negative mutations have been described for CLN5.
View complete mutation data：
Gene Ontology (GO)
| • lysosome (GO:0005764) | • protein binding (GO:0005515) |
| • endosome organization (GO:0007032) | • lysosomal protein catabolic process (GO:0007040) |
| • lysosomal membrane (GO:0005765) |
Pathways
• Lysosomal degradation pathway
• Neuronal ceroid lipofuscinosis pathway
Protein Summary
The CLN5 protein is a soluble lysosomal glycoprotein of approximately 45 kDa. It is synthesized as a precursor and processed into a mature form within the lysosome. CLN5 interacts with other CLN proteins (e.g., CLN3, CLN6) and is involved in lysosomal protein trafficking and degradation. Its dysfunction leads to accumulation of lipofuscin-like material in neurons, causing progressive neurodegeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLN5 Knockout HEK293 Cell Line | EDJ-KQ50199 | Human | 1203 | Details Get a Quote |
| CLN5 Knockout HeLa Cell Line | EDJ-KQ52927 | Human | 1203 | Details Get a Quote |
| CLN5 Knockout A-549 Cell Line | EDJ-KQ61395 | Human | 1203 | Details Get a Quote |
| CLN5 Knockout HCT 116 Cell Line | EDJ-KQ69890 | Human | 1203 | Details Get a Quote |
