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; nervous system development; and phospholipid metabolic process. 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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa25040 | Allele with one point mutation | Unknown | Unknown | ENU |
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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 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | TLC domain-containing | TRAM/LAG1/CLN8 homology domain |
|---|---|---|---|
|
UniProtKB:F1QYC0
|
289 |
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| 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 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-266A16 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:172202 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001114588 (1) | 1473 nt | ||
| Genomic | GenBank:AL928723 (1) | 211720 nt | ||
| Polypeptide | UniProtKB:F1QYC0 (1) | 289 aa |
- Marchese, M., Bernardi, S., Ogi, A., Licitra, R., Silvi, G., Mero, S., Galatolo, D., Gammaldi, N., Doccini, S., Ratto, G.M., Rapposelli, S., Neuhauss, S.C.F., Zang, J., Rocchiccioli, S., Michelucci, E., Ceccherini, E., Santorelli, F.M. (2024) Targeting autophagy impairment improves the phenotype of a novel CLN8 zebrafish model. Neurobiology of disease. 197:106536
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
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