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
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from Cristofoli et al., 2018
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With caskb Human Ortholog
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
Associated With caskb Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
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 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
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations