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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
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:13517080-13846784 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome X, 8.43 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    847 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1309489
protein coding gene ChrX:13517080-13851367 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035573
protein coding gene ChrX:8381921-8724116 (-)
A/J MGP_AJ_G0035551
protein coding gene ChrX:8458734-8809556 (-)
AKR/J MGP_AKRJ_G0035483
protein coding gene ChrX:8745704-9097823 (-)
BALB/cJ MGP_BALBcJ_G0035544
protein coding gene ChrX:8319323-8658485 (-)
C3H/HeJ MGP_C3HHeJ_G0035260
protein coding gene ChrX:8484000-8819777 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036073
protein coding gene ChrX:8588595-8933011 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032943
protein coding gene ChrX:7358030-7686423 (-)
CAST/EiJ MGP_CASTEiJ_G0034552
protein coding gene ChrX:8224917-8573451 (-)
CBA/J MGP_CBAJ_G0035229
protein coding gene ChrX:9024491-9384539 (-)
DBA/2J MGP_DBA2J_G0035382
protein coding gene ChrX:8300327-8635613 (-)
FVB/NJ MGP_FVBNJ_G0035329
protein coding gene ChrX:8136644-8469804 (-)
LP/J MGP_LPJ_G0035464
protein coding gene ChrX:8553149-8905499 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035372
protein coding gene ChrX:8932317-9301068 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036085
protein coding gene ChrX:8295968-8634762 (-)
PWK/PhJ MGP_PWKPhJ_G0034253
protein coding gene ChrX:7789049-8126659 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034094
protein coding gene ChrX:8391058-8738498 (-)
WSB/EiJ MGP_WSBEiJ_G0034688
protein coding gene ChrX:8329420-8675848 (-)



Homology
more
  • Human Ortholog
    CASK, calcium/calmodulin dependent serine protein kinase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CASK, calcium/calmodulin dependent serine protein kinase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CAGH39, CAMGUK, CMG, FGS4, hCASK, LIN2, MICPCH, MRXSNA, TNRC8
  • Links
    NCBI Gene ID: 8573
    neXtProt AC: NX_O14936
    UniProt: O14936

  • Chr Location
    Xp11.4; chrX:41514934-41923525 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 2736
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: CASK
  • Gene Tree
Human Diseases
more
  • Diseases
    3 with human CASK associations

Human Disease Mouse Models
      
IDs
IDs
IDs
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
    12 phenotype references
Phenotype Overview

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

Click cells to view annotations.
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
less
  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12361 NCBI Gene Model | MGI Sequence Detail 329705 C57BL/6J ±  kb
    transcript NM_001284503 RefSeq | MGI Sequence Detail 8376 C57BL/6  
    polypeptide O70589 UniProt | EBI | MGI Sequence Detail 926 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 26
      Genomic 4
      cDNA 11
      Primer pair 11

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-19458, MGI:102573
    References
    more
    • Summaries
      All 69
      Developmental Gene Expression 22
      Gene Ontology 19
      Phenotypes 12
    • 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:254551 Eichel CA, et al., Lateral Membrane-Specific MAGUK CASK Down-Regulates NaV1.5 Channel in Cardiac Myocytes. Circ Res. 2016 Aug 5;119(4):544-56

    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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory