Gene
ca8
- ID
- ZDB-GENE-050417-26
- Name
- carbonic anhydrase VIII
- Symbol
- ca8 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to enable carbonate dehydratase activity and zinc ion binding activity. Acts upstream of or within several processes, including cerebellum development; swimming behavior; and thigmotaxis. Is expressed in several structures, including brain; digestive system; hatching gland; hindbrain neural plate; and pleuroperitoneal region. Used to study cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 34. Orthologous to human CA8 (carbonic anhydrase 8).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 20 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:110118 (19 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive spinocerebellar ataxia 34 | Alliance | Spinocerebellar ataxia, autosomal recessive 34 | 613227 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome | AB + MO3-ca8 | standard conditions | Huang et al., 2014 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018338 | Carbonic anhydrase, alpha-class, conserved site |
| Domain | IPR001148 | Alpha carbonic anhydrase domain |
| Family | IPR023561 | Carbonic anhydrase, alpha-class |
| Family | IPR041877 | Carbonic anhydrase-related protein VIII |
| Homologous_superfamily | IPR036398 | Alpha carbonic anhydrase domain superfamily |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Alpha carbonic anhydrase domain | Alpha carbonic anhydrase domain superfamily | Carbonic anhydrase, alpha-class | Carbonic anhydrase, alpha-class, conserved site | Carbonic anhydrase-related protein VIII |
|---|---|---|---|---|---|---|---|
| UniProtKB:Q568S6 | InterPro | 281 | |||||
| UniProtKB:A0A8M1N588 | InterPro | 281 | |||||
| UniProtKB:A0AB32TZ63 | InterPro | 249 |
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Interactions and Pathways
No data available
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(-7.5ca8:GFP) |
|
| 1 | (6) | |
| Tg(ca8-E1B:Cr.ChR2-FMAVenus,RGECO) |
|
| 1 | Matsui et al., 2014 | |
| Tg(ca8-E1B:FMAmClover,HA-Hsa.DYRK1A) |
|
| 1 | (2) | |
| Tg(ca8-E1B:FMATagRFP) |
|
| 1 | (6) | |
| Tg(ca8-E1B:FMATagRFP,EGFP) |
|
| 1 | Matsui et al., 2014 | |
| Tg(ca8-E1B:FMATagRFP,GCaMP5G) |
|
| 1 | (4) | |
| Tg(ca8-E1B:FMATagRFP,Tae.WGA) |
|
| 1 | Matsui et al., 2014 | |
| Tg(ca8-E1B:GCaMP6s) |
|
| 1 | (2) | |
| Tg(ca8-E1B:Hso.Arch3-TagRFPT,GCaMP5G) |
|
| 1 | (4) | |
| Tg(ca8-E1B:Hso.Arch3-TagRFPT,Hso.Arch3-TagRFPT) |
|
| 1 | (2) |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-59O6 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:110118 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:191811 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001017571 (1) | 2294 nt | ||
| Genomic | GenBank:CR847864 (2) | 81867 nt | ||
| Polypeptide | UniProtKB:A0A8M1N588 (1) | 281 aa |
- Kaiyrzhanov, R., Ortigoza-Escobar, J.D., Stringer, B.W., Ganieva, M., Gowda, V.K., Srinivasan, V.M., Macaya, A., Laner, A., Onbool, E., Al-Shammari, R., Al-Owain, M., Deconinck, N., Vilain, C., Dontaine, P., Self, E., Akram, R., Hussain, G., Baig, S.M., Iqbal, J., Salpietro, V., Neshatdoust, M., Kasiri, M., Yesil, G., Uygur, T., Pysden, K., Berry, I.R., Alves, C.A., Giacomotto, J., Houlden, H., Maroofian, R. (2024) Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia. Movement disorders : official journal of the Movement Disorder Society. 39(6):983-995
- Kim, T.Y., Roychaudhury, A., Kim, H.T., Choi, T.I., Baek, S.T., Thyme, S.B., Kim, C.H. (2024) Impairments of cerebellar structure and function in a zebrafish KO of neuropsychiatric risk gene znf536. Translational psychiatry. 14:8282
- Markov, D.A., Petrucco, L., Kist, A.M., Portugues, R. (2021) A cerebellar internal model calibrates a feedback controller involved in sensorimotor control. Nature communications. 12:6694
- Knogler, L.D., Kist, A.M., Portugues, R. (2019) Motor context dominates output from Purkinje cell functional regions during reflexive visuomotor behaviours. eLIFE. 8:
- Namikawa, K., Dorigo, A., Zagrebelsky, M., Russo, G., Kirmann, T., Fahr, W., Dübel, S., Korte, M., Köster, R.W. (2019) Modeling neurodegenerative Spinocerebellar Ataxia type 13 in zebrafish using a Purkinje neuron specific tunable co-expression system. The Journal of neuroscience : the official journal of the Society for Neuroscience. 39(20):3948-3969
- Thyme, S.B., Pieper, L.M., Li, E.H., Pandey, S., Wang, Y., Morris, N.S., Sha, C., Choi, J.W., Herrera, K.J., Soucy, E.R., Zimmerman, S., Randlett, O., Greenwood, J., McCarroll, S.A., Schier, A.F. (2019) Phenotypic Landscape of Schizophrenia-Associated Genes Defines Candidates and Their Shared Functions. Cell. 177(2):478-491.e20
- Matsumoto, H., Fujiwara, S., Miyagi, H., Nakamura, N., Shiga, Y., Ohta, T., Tsuzuki, M. (2017) Carbonic Anhydrase Inhibitors Induce Developmental Toxicity During Zebrafish Embryogenesis, Especially in the Inner Ear. Marine biotechnology (New York, N.Y.). 19(5):430-440
- Takeuchi, M., Yamaguchi, S., Sakakibara, M., Hayashi, T., Matsuda, K., Hara, Y., Tanegashima, C., Shimizu, T., Kuraku, S., Hibi, M. (2017) Gene expression profiling of granule cells and Purkinje cells in the zebrafish cerebellum. The Journal of comparative neurology. 525(7):1558-1585
- 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
- Tarbashevich, K., Reichman-Fried, M., Grimaldi, C., Raz, E. (2015) Chemokine-Dependent pH Elevation at the Cell Front Sustains Polarity in Directionally Migrating Zebrafish Germ Cells. Current biology : CB. 25(8):1096-103
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