Cask
Gene Detail

Symbol Name ID

Cask calcium/calmodulin-dependent serine protein kinase (MAGUK family) MGI:1309489

Synonyms

DXPri1, DXRib1, LIN-2, mLin-2, Pals3

Feature Type

protein coding gene

Genetic Map

Chromosome X

8.43 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

ChrX:13517080-13851367 bp, - strand From VEGA annotation of GRCm38   334288 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:2736  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Cask

Human homologs

Human Homolog		CASK, calcium/calmodulin-dependent serine protein kinase (MAGUK family)
NCBI Gene ID		8573
neXtProt AC		NX_O14936
Human Synonyms		CAGH39, CAMGUK, CMG, FGS4, LIN2, MICPCH, MRXSNA, TNRC8
Human Chr (Location)		Xp11.4; chrX:41374187-41782287 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human CASK

Alleles and phenotypes

All alleles(14) : Targeted(4) Gene trapped(9) Transgenic(1)
 

Mutation of this gene results in cleft palate and perinatal lethality in hemizygous males and death within 2 weeks in females on a C57BL/6J background. Some female animals on a CD1 background survive to adulthood exhibiting patchy fur, wrinkled skin, a kinked tail and spine, and give birth to small and infrequent litters. Male and female animals on all genetic backgrounds exhibit reduced head size, shortened jaw, and a pointed snout.

 
Phenotype Images(1)

Gene Ontology (GO) classifications

All GO classifications: (59 annotations)

Process	calcium ion import, intracellular protein transport, ...
Component	basement membrane, basolateral plasma membrane, ...
Function	ATP binding, calmodulin binding, ...

External Resources: FuncBase

Expression

Literature Summary: (18 records)
Data Summary: Results (143)    Tissues (123)    Images (16)
Theiler Stages: 4, 9, 15, 17, 18, 20, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
RNA in situ	94
Northern blot	13
Western blot	17
RT-PCR	19

cDNA source data(9)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(23) Genomic(4) cDNA(9) Primer pair(10)
Microarray probesets(6)

Other database links

VEGA Gene Model	OTTMUSG00000016907 (Evidence)
Ensembl Gene Model	ENSMUSG00000031012 (Evidence)
Entrez Gene	12361 (Evidence)
DFCI	TC1579621, TC1612118
DoTS	DT.487278, DT.91344172, DT.94124274, DT.94258390, DT.97332591, DT.99843324
NIA Mouse Gene Index	U043892
EC	2.7.11.1
PDB	1Y74
Consensus CDS Project	CCDS40878.1
International Mouse Knockout Project Status	Cask

Sequences

Length	Strain/Species
genomic	OTTMUSG00000016907	VEGA Gene Model | MGI Sequence Detail	334288	C57BL/6J
transcript	OTTMUST00000041028	VEGA | MGI Sequence Detail	8366	Not Applicable
polypeptide	OTTMUSP00000018374	VEGA | MGI Sequence Detail	920	Not Applicable

All sequences(77) RefSeq(2) UniProt(10)

Polymorphisms

RFLP(2) : SNPs(803 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR008144	Guanylate kinase
InterPro	IPR020590	Guanylate kinase, conserved site
InterPro	IPR008145	Guanylate kinase/L-type calcium channel
InterPro	IPR004172	L27
InterPro	IPR014775	L27, C-terminal
InterPro	IPR001478	PDZ domain
InterPro	IPR027417	P-loop containing nucleoside triphosphate hydrolase
InterPro	IPR000719	Protein kinase, catalytic domain
InterPro	IPR011009	Protein kinase-like domain
InterPro	IPR002290	Serine/threonine- / dual specificity protein kinase, catalytic domain
InterPro	IPR001452	Src homology-3 domain
InterPro	IPR011511	Variant SH3
Protein Ontology	PR:000005051	peripheral plasma membrane protein CASK

References

(Earliest) J:10591 Wilson JB, et al., Expression of the BNLF-1 oncogene of Epstein-Barr virus in the skin of transgenic mice induces hyperplasia and aberrant expression of keratin 6. Cell. 1990 Jun 29;61(7):1315-27
(Latest) J:193047 Revil T, et al., During embryogenesis, esrp1 expression is restricted to a subset of epithelial cells and is associated with splicing of a number of developmentally important genes. Dev Dyn. 2013 Mar;242(3):281-90
All references(60)

Other accession IDs

MGD-MRK-19458, MGI:102573