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

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Predicted to enable signaling receptor binding activity. Predicted to be involved in intracellular protein localization and regulation of neurotransmitter secretion. Predicted to be active in basolateral plasma membrane and cell-cell junction. 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

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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
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	Additional Resources	Length
UniProtKB:B6EUL7	InterPro	921
UniProtKB:A0AC58JPX1	InterPro	939
UniProtKB:A0AC58JPX2	InterPro	948
UniProtKB:A0AC58JPX3	InterPro	915
UniProtKB:A0AC58JPX5	InterPro	933
UniProtKB:A0AC58JPX6	InterPro	926
UniProtKB:A0AC58JPX7	InterPro	928
UniProtKB:A0AC58JPX9	InterPro	929
UniProtKB:A0AC58JPY0	InterPro	920
UniProtKB:A0AC58JPY1	InterPro	930
UniProtKB:A0AC58JPY2	InterPro	935
UniProtKB:A0AC58JPY3	InterPro	937
UniProtKB:A0AC58JPY8	InterPro	934
UniProtKB:A0AC58JPZ2	InterPro	943
UniProtKB:A0AC58JPZ6	InterPro	942
UniProtKB:A0AC58JQ41	InterPro	924