Gene
cln8
- ID
- ZDB-GENE-060906-3
- Name
- CLN8 transmembrane ER and ERGIC protein
- Symbol
- cln8 Nomenclature History
- Previous Names
-
- zgc:172202
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to enable ceramide binding activity. Predicted to be involved in lipid homeostasis. Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum. Human ortholog(s) of this gene implicated in neuronal ceroid lipofuscinosis 8 and neuronal ceroid lipofuscinosis 8 northern epilepsy variant. Orthologous to human CLN8 (CLN8 transmembrane ER and ERGIC protein).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| neuronal ceroid lipofuscinosis 8 | Alliance | Ceroid lipofuscinosis, neuronal, 8 | 600143 |
| neuronal ceroid lipofuscinosis 8 northern epilepsy variant | Alliance | Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant | 610003 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | TLC domain-containing | TRAM/LAG1/CLN8 homology domain |
|---|---|---|---|
|
UniProtKB:F1QYC0
|
289 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| antisense |
ottdart00000059933
(1)
|
Ensembl | 1,026 nt | ||
| antisense |
ottdart00000059935
(1)
|
Ensembl | 461 nt | ||
| mRNA |
cln8-201
(1)
|
Ensembl | 1,713 nt | ||
| mRNA |
cln8-203
(1)
|
Ensembl | 1,490 nt | ||
| ncRNA |
cln8-002
(1)
|
Ensembl | 532 nt |
Interactions and Pathways
No data available
Plasmids
No data available