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Cdkl5 Gene Detail
Summary
  • Symbol
    Cdkl5
  • Name
    cyclin-dependent kinase-like 5
  • Synonyms
    Stk9
  • Feature Type
    protein coding gene
  • IDs
    MGI:1278336
    NCBI Gene: 382253
  • Gene Overview
    MyGene.info: CDKL5
Location & Maps
more
  • Sequence Map
    ChrX:160771923-160994704 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      222782 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome X, 73.95 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    CDKL5, cyclin dependent kinase like 5
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CDKL5, cyclin dependent kinase like 5
    Orthology source: HomoloGene
  • Synonyms
    CFAP247, EIEE2, ISSX, STK9
  • Links
    NCBI Gene ID: 6792
    neXtProt AC: NX_O76039

  • Chr Location
    Xp22; chrX:18425605-18660858 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 55719
    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: CDKL5
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Cdkl5 mouse models; 2 with human CDKL5 associations

Human Disease Mouse Models
       Epileptic Encephalopathy, Early Infantile, 2; EIEE2   OMIM: 300672 View 2 models
       Angelman Syndrome; AS   OMIM: 105830
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    22 phenotypes from 4 alleles in 6 genetic backgrounds
    2 images
    9 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
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
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    16
  • Gene trapped
    10
  • Spontaneous
    1
  • Targeted
    5
  • Genomic Mutations
    1 involving Cdkl5
  • Incidental Mutations
    APF
Male mice hemizygous for a knock-out allele exhibit hyperactivity, impaired coordination, decreased anxiety-related response, limb grasping, social withdrawal, and impaired nesting, conditioned behavior learning and auditory-evoked event-related potentials.
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 OTTMUSG00000019591 VEGA Gene Model | MGI Sequence Detail 222782 C57BL/6J ±  kb
transcript OTTMUST00000136003 VEGA | MGI Sequence Detail 9796 Not Applicable  
polypeptide OTTMUSP00000071880 VEGA | MGI Sequence Detail 960 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    548 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 9
    cDNA 8
    Other 1

    Microarray probesets 1
Other
Accession IDs
less
MGI:2448589
References
more
  • Summaries
    All 37
    Developmental Gene Expression 4
    Diseases 1
    Gene Ontology 6
    Phenotypes 9
  • Earliest
    J:49736 Montini E, et al., Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region. Genomics. 1998 Aug 1;51(3):427-33
  • Latest
    J:227428 Fuchs C, et al., Inhibition of GSK3beta rescues hippocampal development and learning in a mouse model of CDKL5 disorder. Neurobiol Dis. 2015 Oct;82:298-310

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory