Gene
caska
- ID
- ZDB-GENE-020802-4
- Name
- calcium/calmodulin-dependent serine protein kinase a
- Symbol
- caska Nomenclature History
- Previous Names
-
- cask
- wu:fb70g06
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to have ATP binding activity and protein kinase activity. Predicted to be involved in protein phosphorylation. Human ortholog(s) of this gene implicated in FG syndrome and syndromic X-linked intellectual disability Najm type. Is expressed in nervous system; notochord; optic vesicle; and yolk syncytial layer. Orthologous to human CASK (calcium/calmodulin dependent serine protein kinase).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 6 figures from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6893159 (10 images)
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Cristofoli et al., 2018
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
FG syndrome | Alliance | FG syndrome 4 | 300422 |
FG syndrome | Alliance | Intellectual developmental disorder, with or without nystagmus | 300422 |
syndromic X-linked intellectual disability Najm type | Alliance | Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia | 300749 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR020590 | Guanylate kinase, conserved site |
Domain | IPR000719 | Protein kinase domain |
Domain | IPR001452 | SH3 domain |
Domain | IPR001478 | PDZ domain |
Domain | IPR004172 | L27 domain |
Domain | IPR008144 | Guanylate kinase-like domain |
Domain | IPR008145 | Guanylate kinase/L-type calcium channel beta subunit |
Domain | IPR014775 | L27 domain, C-terminal |
Homologous_superfamily | IPR011009 | Protein kinase-like domain superfamily |
Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
Homologous_superfamily | IPR036028 | SH3-like domain superfamily |
Homologous_superfamily | IPR036034 | PDZ superfamily |
Homologous_superfamily | IPR036892 | L27 domain superfamily |
Domain Details Per Protein
Interactions and Pathways
No data available
Plasmids
No data available