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Cdkl5
Gene Detail
Symbol

Name
ID
Cdkl5
cyclin-dependent kinase-like 5
MGI:1278336
Synonyms
Stk9
Feature Type
protein coding gene
Genetic Map
Chromosome X
73.95 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
ChrX:160784308-160994702 bp, - strand
From VEGA annotation of GRCm38

  210395 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:55719  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: CDKL5
Gene Tree: Cdkl5

Human
homologs
CDKL5, cyclin-dependent kinase-like 5
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 6792
neXtProt AC: NX_O76039

Human Synonyms: EIEE2, ISSX, STK9

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

Disease Associations: (2) Diseases Associated with Human CDKL5

Mutations,
alleles, and
phenotypes
All mutations/alleles(16) : Gene trapped(10) Spontaneous(1) Targeted(5)
Genomic Mutations involving Cdkl5 (1)
Incidental mutations (data from 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.
 
Human Diseases Modeled in Mice Using Cdkl5 (1)    Mutations Annotated to Human Diseases (1)    Phenotype Images(1)
Interactions
Cdkl5 interacts with 58 markers (Mir10b, Mir23b, Mir26a-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (22 annotations)
Process neuron migration, phosphorylation, ...
Component cytoplasm, dendrite cytoplasm, ...
Function ATP binding, cyclin-dependent protein serine/threonine kinase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (13)    Tissues (13)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 2
RNA in situ 3
Northern blot 8
cDNA source data(7)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase cdkl5    NEW 
Molecular
reagents
All nucleic(9) cDNA(8) Other(1)
Microarray probesets(1)
Other database
links
VEGA Gene Model OTTMUSG00000019591 (Evidence)
Ensembl Gene Model ENSMUSG00000031292 (Evidence)
Entrez Gene 382253 (Evidence)
UniGene 443717
DFCI TC1639357, TC1614988, TC1612152, TC1770882
DoTS DT.91297660, DT.55254770, DT.87059363
NIA Mouse Gene Index U039834
EC 2.7.11.22
Consensus CDS Project CCDS53238.1
International Mouse Phenotyping Consortium Status Cdkl5
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019591 VEGA Gene Model | MGI Sequence Detail 210395 C57BL/6J ±  kb
transcript OTTMUST00000046802 VEGA | MGI Sequence Detail 3267 Not Applicable 
polypeptide OTTMUSP00000021165 VEGA | MGI Sequence Detail 938 Not Applicable 

For the selected sequences
All sequences(30) RefSeq(2) UniProt(2)
Polymorphisms
RFLP(2) : SNPs within 2kb(547 from dbSNP Build 137)    SNPs within 2kb including multiple locations(549)
Protein-related
information
ResourceIDDescription
InterPro IPR017441 Protein kinase, ATP binding site
InterPro IPR000719 Protein kinase, catalytic domain
InterPro IPR011009 Protein kinase-like domain
InterPro IPR002290 Serine/threonine- / dual specificity protein kinase, catalytic domain
InterPro IPR008271 Serine/threonine-protein kinase, active site
Protein Ontology PR:000005273 cyclin-dependent kinase-like 5
References
(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:218351 Fuchs C, et al., Loss of CDKL5 impairs survival and dendritic growth of newborn neurons by altering AKT/GSK-3beta signaling. Neurobiol Dis. 2014 Oct;70:53-68
All references(38)
Disease annotation references (1)
Other
accession IDs
MGI:2448589

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
06/30/2015
MGI 5.22
The Jackson Laboratory