Gene
caskb
- ID
- ZDB-GENE-030131-4473
- Name
- calcium/calmodulin-dependent serine protein kinase b
- Symbol
- caskb Nomenclature History
- Previous Names
-
- fd08c05
- wu:fd08c05
- Type
- protein_coding_gene
- Location
- Chr: 6 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. Orthologous to human CASK (calcium/calmodulin dependent serine protein kinase).
- 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
- 2 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
| Protein | Length | CASK, SH3 domain | Guanylate kinase, conserved site | Guanylate kinase-like domain | Guanylate kinase/L-type calcium channel beta subunit | L27 domain | L27 domain, C-terminal | L27 domain superfamily | Membrane-associated guanylate kinase | PDZ domain | PDZ superfamily | P-loop containing nucleoside triphosphate hydrolase | Protein kinase domain | Protein kinase-like domain superfamily | SH3 domain | SH3-like domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:B6EUL7
|
921 |
Interactions and Pathways
No data available
Plasmids
No data available