Gene
ttbk2a
- ID
- ZDB-GENE-120928-3
- Name
- tau tubulin kinase 2a
- Symbol
- ttbk2a Nomenclature History
- Previous Names
-
- ttbk2
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in cilium assembly and signal transduction. Predicted to act upstream of or within protein phosphorylation. Predicted to be active in several cellular components, including ciliary basal body; ciliary transition zone; and nucleus. Human ortholog(s) of this gene implicated in spinocerebellar ataxia type 11. Orthologous to human TTBK2 (tau tubulin kinase 2).
- 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 |
|---|---|---|---|---|---|
| sa6493 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa11110 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa15136 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa16939 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa23172 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa25047 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| spinocerebellar ataxia type 11 | Alliance | Spinocerebellar ataxia 11 | 604432 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Casein Kinase 1 Ser/Thr Protein Kinase | Protein kinase, ATP binding site | Protein kinase domain | Protein kinase-like domain superfamily |
|---|---|---|---|---|---|---|
| UniProtKB:E7FE66 | InterPro | 1193 | ||||
| UniProtKB:A0A2R8QH39 | InterPro | 1082 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
ttbk2a-201
(1)
|
Ensembl | 4,231 nt | ||
| mRNA |
ttbk2a-202
(1)
|
Ensembl | 3,951 nt | ||
| mRNA |
ttbk2a-203
(1)
|
Ensembl | 3,618 nt | ||
| mRNA |
ttbk2a-204
(1)
|
Ensembl | 1,296 nt |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-70A17 | ZFIN Curated Data | |
| Contained in | BAC | CH73-374J17 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_002665239 (1) | 11044 nt | ||
| Genomic | GenBank:CU695222 (2) | 90516 nt | ||
| Polypeptide | UniProtKB:E7FE66 (1) | 1193 aa |
- Comparative Orthology
- Alliance
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
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