Gene
cep290
- ID
- ZDB-GENE-041111-243
- Name
- centrosomal protein 290
- Symbol
- cep290 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Involved in hindbrain development; pronephros development; and sensory organ morphogenesis. Acts upstream of or within several processes, including photoreceptor cell maintenance; regulation of cilium assembly; and sensory organ morphogenesis. Predicted to be located in centriolar satellite and nucleus. Is expressed in several structures, including Kupffer's vesicle; gut; nervous system; notochord; and pronephros. Used to study ciliopathy. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 14; Joubert syndrome 5; Leber congenital amaurosis 10; Meckel syndrome 4; and Senior-Loken syndrome. Orthologous to human CEP290 (centrosomal protein 290).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
Wild Type Expression Summary
- All Phenotype Data
- 50 figures from 15 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| cep290_unrecovered | Allele with one point mutation | Unknown | Unknown | ENU | |
| fb208 | Allele with one deletion | Exon 16 | Frameshift, Premature Stop | CRISPR | |
| fh297 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| fh378 | Allele with one deletion | Unknown | Frameshift | TALEN | |
| ihb843 | Allele with one delins | Exon 30 | Unknown | CRISPR | |
| sa1383 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa6804 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa11985 | Allele with one point mutation | Unknown | Unknown | ENU | |
| sa13473 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa38045 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Bardet-Biedl syndrome 14 | Alliance | ?Bardet-Biedl syndrome 14 | 615991 |
| Joubert syndrome 5 | Alliance | Joubert syndrome 5 | 610188 |
| Leber congenital amaurosis 10 | Alliance | Leber congenital amaurosis 10 | 611755 |
| Meckel syndrome 4 | Alliance | Meckel syndrome 4 | 611134 |
| Senior-Loken syndrome | Alliance | Senior-Loken syndrome 6 | 610189 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| ciliopathy | WT + MO4-cep290 | control | Tobin et al., 2008 |
| Leber congenital amaurosis | cep290sa1383/sa1383 | standard conditions | Wang et al., 2020 |
| retinal degeneration | cep290fh297/fh297 | standard conditions | Fogerty et al., 2022 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Centrosomal protein of 290kDa | Centrosomal protein of 290kDa, coiled-coil region |
|---|---|---|---|
|
UniProtKB:A0A8M3AZL6
|
2741 | ||
|
UniProtKB:F8W5U5
|
2439 | ||
|
UniProtKB:A0A8M2BA16
|
2734 | ||
|
UniProtKB:A0A8M3AP13
|
2446 | ||
|
UniProtKB:A0A8M3AWH7
|
2734 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cep290-201
(1)
|
Ensembl | 7,706 nt | ||
| mRNA |
cep290-202
(1)
|
Ensembl | 7,580 nt |
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Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab2-cep290 | polyclonal | Rabbit |
|
2 | |||
| Ab3-cep290 | polyclonal | Rabbit |
|
1 |
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Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-244M13 | ||
| Contained in | BAC | DKEY-30I6 | ||
| Encodes | EST | IMAGE:7145703 | Thisse et al., 2004 | |
| Encodes | EST | IMAGE:7147820 | Thisse et al., 2004 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001168267 (1) | 7580 nt | ||
| Genomic | GenBank:BX901919 | 233401 nt | ||
| Polypeptide | UniProtKB:A0A8M3AZL6 (1) | 2741 aa |
- Zebrafish Nomenclature Committee (2024) Nomenclature Data Curation (2024). Nomenclature Committee Submission.
- Grabinski, S.E., Parsana, D., Perkins, B.D. (2023) Comparative analysis of transcriptional changes in zebrafish cep290 and bbs2 mutants by RNA-seq reveals upregulation of inflammatory and stress-related pathways. Frontiers in molecular neuroscience. 16:11488401148840
- Ciampi, L., Mantica, F., López-Blanch, L., Permanyer, J., Rodriguez-Marín, C., Zang, J., Cianferoni, D., Jiménez-Delgado, S., Bonnal, S., Miravet-Verde, S., Ruprecht, V., Neuhauss, S.C.F., Banfi, S., Carrella, S., Serrano, L., Head, S.A., Irimia, M. (2022) Specialization of the photoreceptor transcriptome by Srrm3-dependent microexons is required for outer segment maintenance and vision. Proceedings of the National Academy of Sciences of the United States of America. 119:e2117090119
- Fogerty, J., Song, P., Boyd, P., Grabinski, S.E., Hoang, T., Reich, A., Cianciolo, L.T., Blackshaw, S., Mumm, J.S., Hyde, D.R., Perkins, B.D. (2022) Notch inhibition promotes regeneration and immunosuppression supports cone survival in a zebrafish model of inherited retinal dystrophy. The Journal of neuroscience : the official journal of the Society for Neuroscience. 42(26):5144-5158
- Mytlis, A., Kumar, V., Qiu, T., Deis, R., Hart, N., Levy, K., Masek, M., Shawahny, A., Ahmad, A., Eitan, H., Nather, F., Adar-Levor, S., Birnbaum, R.Y., Elia, N., Bachmann-Gagescu, R., Roy, S., Elkouby, Y.M. (2022) Control of meiotic chromosomal bouquet and germ cell morphogenesis by the zygotene cilium. Science (New York, N.Y.). 376(6599):eabh3104
- Wang, J., Thomas, H.R., Thompson, R.G., Waldrep, S.C., Fogerty, J., Song, P., Li, Z., Ma, Y., Santra, P., Hoover, J.D., Yeo, N.C., Drummond, I.A., Yoder, B.K., Amack, J.D., Perkins, B., Parant, J.M. (2022) Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants. Disease models & mechanisms. 15(12):
- Cardenas-Rodriguez, M., Austin-Tse, C., Bergboer, J.G.M., Molinari, E., Sugano, Y., Bachmann-Gagescu, R., Sayer, J.A., Drummond, I.A. (2021) Genetic compensation for cilia defects in cep290/NPHP6 mutants by upregulation of cilia-associated small GTPases. Journal of Cell Science. 134(14):
- Leventea, E., Zhu, Z., Fang, X., Nikolaeva, Y., Markham, E., Hirst, R.A., van Eeden, F.J.M., Malicki, J.J. (2021) Ciliopathy genes are required for apical secretion of Cochlin, an otolith crystallization factor. Proceedings of the National Academy of Sciences of the United States of America. 118(28):
- Zhu, P., Qiu, Q., Harris, P.C., Xu, X., Lin, X. (2021) mtor Haploinsufficiency Ameliorates Renal Cysts and Cilia Abnormality in Adult Zebrafish tmem67 Mutants. Journal of the American Society of Nephrology : JASN. 32(4):822-836
- Wang, X., Shan, X., Gregory-Evans, K., Gregory-Evans, C.Y. (2020) RNA-based therapies in animal models of Leber congenital amaurosis causing blindness. Precision clinical medicine. 3:113-126
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