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 have carbonate dehydratase activity and zinc ion binding activity. Involved in cerebellum development; chordate embryonic development; and swimming behavior. Used to study cerebellar ataxia, mental retardation and dysequlibrium syndrome. Human ortholog(s) of this gene implicated in cerebellar ataxia, mental retardation and dysequlibrium syndrome. Is expressed in several structures, including brain; digestive system; hatching gland; hindbrain neural plate; and pleuroperitoneal region. Orthologous to human CA8 (carbonic anhydrase 8).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 19 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:110118 (19 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 | Alliance | Spinocerebellar ataxia, autosomal recessive 34 | 613227 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome | AB + MO3-ca8 | standard conditions | Huang et al., 2014 |
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 |
Domain Details Per Protein
Protein | 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
|
281 |
Interactions and Pathways
No data available
Plasmids
No data available