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Cask Gene Detail
Summary
  • Symbol
    Cask
  • Name
    calcium/calmodulin-dependent serine protein kinase (MAGUK family)
  • Synonyms
    DXPri1, DXRib1, LIN-2, mLin-2, Pals3
  • Feature Type
    protein coding gene
  • IDs
    MGI:1309489
    NCBI Gene: 12361
  • Gene Overview
    MyGene.info: CASK
Location & Maps
more
  • Sequence Map
    ChrX:13517080-13851367 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      334288 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    CASK, calcium/calmodulin-dependent serine protein kinase (MAGUK family)
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CASK, calcium/calmodulin-dependent serine protein kinase (MAGUK family)
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CAGH39, CAMGUK, CMG, FGS4, LIN2, MICPCH, MRXSNA, TNRC8
  • Links
    NCBI Gene ID: 8573
    neXtProt AC: NX_O14936

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

  • HomoloGene
    Vertebrate Homology Class 2736
    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
Human Diseases
more
  • Diseases
    2 with human CASK associations

Human Disease Mouse Models
       Fg Syndrome 4; FGS4   OMIM: 300422
Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia;   OMIM: 300749
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    28 phenotypes from 3 alleles in 3 genetic backgrounds
    1 images
    11 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    14
  • Gene trapped
    9
  • Targeted
    4
  • Transgenic
    1
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
less
  • SNPs within 2kb
    847 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 24
    Genomic 4
    cDNA 9
    Primer pair 11

    Microarray probesets 6
Other
Accession IDs
less
MGD-MRK-19458, MGI:102573
References
more
  • Summaries
    All 63
    Developmental Gene Expression 20
    Gene Ontology 18
    Phenotypes 11
  • 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:222552 Tindi JO, et al., ANKS1B Gene Product AIDA-1 Controls Hippocampal Synaptic Transmission by Regulating GluN2B Subunit Localization. J Neurosci. 2015 Jun 17;35(24):8986-96

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
04/26/2016
MGI 6.03
The Jackson Laboratory