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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 western clawed frog; 1 zebrafish

HCOP human homology predictions: CASK
Gene Tree: Cask

Human
homologs
CASK, calcium/calmodulin-dependent serine protein kinase (MAGUK family)
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 8573
neXtProt AC: NX_O14936

Human Synonyms: CAGH39, CAMGUK, CMG, FGS4, LIN2, MICPCH, MRXSNA, TNRC8

Human Chr (Location): Xp11.4; chrX:41514934-41923078 (-)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human CASK

Mutations,
alleles, and
phenotypes
All mutations/alleles(14) : Gene trapped(9) Targeted(4) Transgenic(1)
Incidental mutations (data from Mutagenetix , APF )
 
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)
Interactions
Cask interacts with 519 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (61 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: (20 records)
Data Summary: Results (199)    Tissues (179)    Images (25)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 5
RNA in situ 143
Northern blot 13
Western blot 17
RT-PCR 21
cDNA source data(9)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase cask    NEW 
Molecular
reagents
All nucleic(24) Genomic(4) cDNA(9) Primer pair(11)
Microarray probesets(6)
Other database
links
VEGA Gene Model OTTMUSG00000016907 (Evidence)
Ensembl Gene Model ENSMUSG00000031012 (Evidence)
Entrez Gene 12361 (Evidence)
DFCI TC1612118, TC1579621
DoTS DT.94124274, DT.91344172, DT.487278, DT.99843324, DT.97332591, DT.94258390
NIA Mouse Gene Index U043892
EC 2.7.11.1
PDB 1Y74
Consensus CDS Project CCDS40878.1, CCDS72343.1
International Mouse Phenotyping Consortium Status Cask
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016907 VEGA Gene Model | MGI Sequence Detail 334288 C57BL/6J ±  kb
transcript OTTMUST00000041028 VEGA | MGI Sequence Detail 8366 Not Applicable 
polypeptide OTTMUSP00000018374 VEGA | MGI Sequence Detail 920 Not Applicable 

For the selected sequences
All sequences(112) RefSeq(34) UniProt(11)
Polymorphisms
RFLP(2) : SNPs within 2kb(853 from dbSNP Build 137)    SNPs within 2kb including multiple locations(857)
Protein-related
information
ResourceIDDescription
InterPro IPR020636 Calcium/calmodulin-dependent/calcium-dependent protein kinase
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:207976 Li Q, et al., The splicing regulator PTBP2 controls a program of embryonic splicing required for neuronal maturation. Elife. 2014;3:e01201
All references(64)
Other
accession IDs
MGD-MRK-19458, MGI:102573

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/28/2015
MGI 5.22
The Jackson Laboratory