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 enable signaling receptor binding activity. Predicted to be involved in protein localization and regulation of neurotransmitter secretion. Predicted to act upstream of or within protein phosphorylation. Predicted to be located in membrane. Predicted to be active in basolateral plasma membrane and cell-cell junction. Is expressed in nervous system; notochord; optic vesicle; and yolk syncytial layer. Human ortholog(s) of this gene implicated in FG syndrome and syndromic X-linked intellectual disability Najm type. 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 |
| Domain | IPR035473 | CASK, SH3 domain |
| Family | IPR050716 | Membrane-associated guanylate kinase |
| 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