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CDKL5 (cyclin-dependent kinase-like 5)

Identity

Other namesEIEE2
ISSX
STK9
HGNC (Hugo) CDKL5
LocusID (NCBI) 6792
Location Xp22.13
Location_base_pair Starts at 18460344 and ends at 18671749 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)CDKL5   11411
Cards
Entrez_Gene (NCBI)CDKL5  6792  cyclin-dependent kinase-like 5
GeneCards (Weizmann)CDKL5
Ensembl (Hinxton)ENSG00000008086 [Gene_View]  chrX:18460344-18671749 [Contig_View]  CDKL5 [Vega]
ICGC DataPortalENSG00000008086
cBioPortalCDKL5
AceView (NCBI)CDKL5
Genatlas (Paris)CDKL5
WikiGenes6792
SOURCE (Princeton)NM_001037343 NM_003159
Genomic and cartography
GoldenPath (UCSC)CDKL5  -  Xp22.13   chrX:18460344-18671749 +  Xp22.13   [Description]    (hg19-Feb_2009)
EnsemblCDKL5 - Xp22.13 [CytoView]
Mapping of homologs : NCBICDKL5 [Mapview]
OMIM105830   300203   300672   
Gene and transcription
Genbank (Entrez)AI286150 AK307444 AL704691 AY217744 BC010966
RefSeq transcript (Entrez)NM_001037343 NM_003159
RefSeq genomic (Entrez)AC_000155 NC_000023 NC_018934 NG_008475 NT_167197 NW_001842360 NW_004929438
Consensus coding sequences : CCDS (NCBI)CDKL5
Cluster EST : UnigeneHs.659851 [ NCBI ]
CGAP (NCI)Hs.659851
Alternative Splicing : Fast-db (Paris)GSHG0031408
Alternative Splicing GalleryENSG00000008086
Gene ExpressionCDKL5 [ NCBI-GEO ]     CDKL5 [ SEEK ]   CDKL5 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO76039 (Uniprot)
NextProtO76039  [Medical]
With graphics : InterProO76039
Splice isoforms : SwissVarO76039 (Swissvar)
Catalytic activity : Enzyme2.7.11.22 [ Enzyme-Expasy ]   2.7.11.222.7.11.22 [ IntEnz-EBI ]   2.7.11.22 [ BRENDA ]   2.7.11.22 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)   
Domains : Interpro (EBI)Kinase-like_dom [organisation]   Prot_kinase_dom [organisation]   Protein_kinase_ATP_BS [organisation]   Ser/Thr_dual-sp_kinase_dom [organisation]   Ser/Thr_kinase_AS [organisation]  
Related proteins : CluSTrO76039
Domain families : Pfam (Sanger)Pkinase (PF00069)   
Domain families : Pfam (NCBI)pfam00069   
Domain families : Smart (EMBL)S_TKc (SM00220)  
DMDM Disease mutations6792
Blocks (Seattle)O76039
PDB (SRS)4BGQ   
PDB (PDBSum)4BGQ   
PDB (IMB)4BGQ   
PDB (RSDB)4BGQ   
Human Protein AtlasENSG00000008086 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasO76039
HPRD02190
IPIIPI00746301   
Protein Interaction databases
DIP (DOE-UCLA)O76039
IntAct (EBI)O76039
FunCoupENSG00000008086
BioGRIDCDKL5
InParanoidO76039
Interologous Interaction database O76039
IntegromeDBCDKL5
STRING (EMBL)CDKL5
Ontologies - Pathways
Ontology : AmiGOneuron migration  protein kinase activity  protein serine/threonine kinase activity  cyclin-dependent protein serine/threonine kinase activity  ATP binding  nucleus  nucleolus  cytoplasm  protein phosphorylation  kinase activity  ruffle membrane  dendrite cytoplasm  positive regulation of Rac GTPase activity  dendritic growth cone  positive regulation of axon extension  protein autophosphorylation  Rac GTPase binding  regulation of dendrite development  positive regulation of dendrite morphogenesis  regulation of cell cycle  
Ontology : EGO-EBIneuron migration  protein kinase activity  protein serine/threonine kinase activity  cyclin-dependent protein serine/threonine kinase activity  ATP binding  nucleus  nucleolus  cytoplasm  protein phosphorylation  kinase activity  ruffle membrane  dendrite cytoplasm  positive regulation of Rac GTPase activity  dendritic growth cone  positive regulation of axon extension  protein autophosphorylation  Rac GTPase binding  regulation of dendrite development  positive regulation of dendrite morphogenesis  regulation of cell cycle  
Protein Interaction DatabaseCDKL5
Wikipedia pathwaysCDKL5
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)CDKL5
snp3D : Map Gene to Disease6792
SNP (GeneSNP Utah)CDKL5
SNP : HGBaseCDKL5
Genetic variants : HAPMAPCDKL5
Exome VariantCDKL5
1000_GenomesCDKL5 
ICGC programENSG00000008086 
Somatic Mutations in Cancer : COSMICCDKL5 
CONAN: Copy Number AnalysisCDKL5 
Mutations and Diseases : HGMDCDKL5
Mutations and Diseases : intOGenCDKL5
Genomic VariantsCDKL5  CDKL5 [DGVbeta]
dbVarCDKL5
ClinVarCDKL5
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM105830    300203    300672   
MedgenCDKL5
GENETestsCDKL5
Disease Genetic AssociationCDKL5
Huge Navigator CDKL5 [HugePedia]  CDKL5 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneCDKL5
Homology/Alignments : Family Browser (UCSC)CDKL5
Phylogenetic Trees/Animal Genes : TreeFamCDKL5
Chemical/Protein Interactions : CTD6792
Chemical/Pharm GKB GenePA36218
Clinical trialCDKL5
Cancer Resource (Charite)ENSG00000008086
Other databases
Probes
Litterature
PubMed69 Pubmed reference(s) in Entrez
CoreMineCDKL5
iHOPCDKL5
OncoSearchCDKL5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 16:41:47 CEST 2014

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