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Aliases for CDKL5 Gene

Aliases for CDKL5 Gene

  • Cyclin-Dependent Kinase-Like 5 2 3
  • STK9 3 4 6
  • Serine/Threonine-Protein Kinase 9 3 4
  • Serine/Threonine Kinase 9 2 3
  • EC 2.7.11.22 4 63
  • EIEE2 3 6
  • ISSX 3 6
  • Cyclin Dependent Kinase 5 Transcript 3
  • EC 2.7.11 63

External Ids for CDKL5 Gene

Previous HGNC Symbols for CDKL5 Gene

  • STK9

Previous GeneCards Identifiers for CDKL5 Gene

  • GC0XP017109
  • GC0XP017645
  • GC0XP017805
  • GC0XP018203
  • GC0XP018353
  • GC0XP016199

Summaries for CDKL5 Gene

Entrez Gene Summary for CDKL5 Gene

  • This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

GeneCards Summary for CDKL5 Gene

CDKL5 (Cyclin-Dependent Kinase-Like 5) is a Protein Coding gene. Diseases associated with CDKL5 include epileptic encephalopathy, early infantile, 2 and cdkl5-related angelman-like syndrome. Among its related pathways are BDNF signaling pathway and Sweet Taste Signaling. GO annotations related to this gene include protein serine/threonine kinase activity and kinase activity. An important paralog of this gene is CDKL3.

UniProtKB/Swiss-Prot for CDKL5 Gene

  • Mediates phosphorylation of MECP2.

Gene Wiki entry for CDKL5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CDKL5 Gene

Genomics for CDKL5 Gene

Regulatory Elements for CDKL5 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CDKL5 Gene

Start:
18,425,583 bp from pter
End:
18,653,629 bp from pter
Size:
228,047 bases
Orientation:
Plus strand

Genomic View for CDKL5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CDKL5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDKL5 Gene

Proteins for CDKL5 Gene

  • Protein details for CDKL5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O76039-CDKL5_HUMAN
    Recommended name:
    Cyclin-dependent kinase-like 5
    Protein Accession:
    O76039
    Secondary Accessions:
    • G9B9X4
    • Q14198
    • Q5H985
    • Q8IYC7
    • Q9UJL6

    Protein attributes for CDKL5 Gene

    Size:
    1030 amino acids
    Molecular mass:
    115538 Da
    Quaternary structure:
    • Interacts with MECP2.
    SequenceCaution:
    • Sequence=CAA61445.1; Type=Frameshift; Positions=415; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CDKL5 Gene

    Alternative splice isoforms for CDKL5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CDKL5 Gene

Proteomics data for CDKL5 Gene at MOPED

Selected DME Specific Peptides for CDKL5 Gene

Post-translational modifications for CDKL5 Gene

Domains for CDKL5 Gene

Gene Families for CDKL5 Gene

Suggested Antigen Peptide Sequences for CDKL5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O76039

UniProtKB/Swiss-Prot:

CDKL5_HUMAN :
  • O76039
Domain:
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.
genes like me logo Genes that share domains with CDKL5: view

Function for CDKL5 Gene

Molecular function for CDKL5 Gene

UniProtKB/Swiss-Prot CatalyticActivity: ATP + a protein = ADP + a phosphoprotein
UniProtKB/Swiss-Prot Function: Mediates phosphorylation of MECP2.

Enzyme Numbers (IUBMB) for CDKL5 Gene

Gene Ontology (GO) - Molecular Function for CDKL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IDA 16935860
GO:0004674 protein serine/threonine kinase activity TAS 9721213
GO:0004693 cyclin-dependent protein serine/threonine kinase activity IEA --
GO:0004713 protein tyrosine kinase activity --
GO:0005524 ATP binding IDA 16935860
genes like me logo Genes that share ontologies with CDKL5: view
genes like me logo Genes that share phenotypes with CDKL5: view

Animal Models for CDKL5 Gene

MGI Knock Outs for CDKL5:

Animal Model Products

CRISPR Products

miRNA for CDKL5 Gene

miRTarBase miRNAs that target CDKL5

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CDKL5

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting and HOMER Transcription for CDKL5 Gene

Localization for CDKL5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDKL5 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CDKL5 Gene COMPARTMENTS Subcellular localization image for CDKL5 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for CDKL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 16935860
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0032587 colocalizes_with ruffle membrane ISS --
GO:0032839 dendrite cytoplasm ISS --
genes like me logo Genes that share ontologies with CDKL5: view

Pathways for CDKL5 Gene

genes like me logo Genes that share pathways with CDKL5: view

Pathways by source for CDKL5 Gene

1 Qiagen pathway for CDKL5 Gene
1 BioSystems pathway for CDKL5 Gene

Gene Ontology (GO) - Biological Process for CDKL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration ISS --
GO:0006468 protein phosphorylation TAS 9721213
GO:0043547 positive regulation of GTPase activity ISS --
GO:0045773 positive regulation of axon extension ISS --
GO:0046777 protein autophosphorylation IDA 16935860
genes like me logo Genes that share ontologies with CDKL5: view

Compounds for CDKL5 Gene

(2) HMDB Compounds for CDKL5 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
genes like me logo Genes that share compounds with CDKL5: view

Transcripts for CDKL5 Gene

Unigene Clusters for CDKL5 Gene

Cyclin-dependent kinase-like 5:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CDKL5

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for CDKL5
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CDKL5 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13
SP1: -
SP2: - - - - -
SP3: -
SP4:
SP5:

Relevant External Links for CDKL5 Gene

GeneLoc Exon Structure for
CDKL5
ECgene alternative splicing isoforms for
CDKL5

Expression for CDKL5 Gene

mRNA expression in normal human tissues for CDKL5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for CDKL5 Gene

SOURCE GeneReport for Unigene cluster for CDKL5 Gene Hs.659851

mRNA Expression by UniProt/SwissProt for CDKL5 Gene

O76039-CDKL5_HUMAN
Tissue specificity: Expressed in brain, lung, kidney, prostate, ovary, placenta, pancreas and testis
genes like me logo Genes that share expressions with CDKL5: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for CDKL5 Gene

Orthologs for CDKL5 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CDKL5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CDKL5 35
  • 98.7 (n)
  • 98.56 (a)
CDKL5 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CDKL5 35
  • 92.07 (n)
  • 97.55 (a)
CDKL5 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CDKL5 35
  • 92.51 (n)
  • 97.9 (a)
CDKL5 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cdkl5 35
  • 89.38 (n)
  • 95.8 (a)
Cdkl5 16
Cdkl5 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CDKL5 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CDKL5 36
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cdkl5 35
  • 89.12 (n)
  • 96.02 (a)
chicken
(Gallus gallus)
Aves CDKL5 35
  • 79.68 (n)
  • 83.54 (a)
CDKL5 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CDKL5 36
  • 75 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.22826 35
tropical clawed frog
(Silurana tropicalis)
Amphibia cdkl5 35
  • 72.62 (n)
  • 75.89 (a)
zebrafish
(Danio rerio)
Actinopterygii cdkl5 35
  • 65.86 (n)
  • 68.02 (a)
cdkl5 36
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG6800 36
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dyf-18 36
  • 31 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KIN28 36
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 71 (a)
OneToOne
Species with no ortholog for CDKL5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CDKL5 Gene

ENSEMBL:
Gene Tree for CDKL5 (if available)
TreeFam:
Gene Tree for CDKL5 (if available)

Paralogs for CDKL5 Gene

Paralogs for CDKL5 Gene

Selected SIMAP similar genes for CDKL5 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CDKL5: view

Variants for CDKL5 Gene

Sequence variations from dbSNP and Humsavar for CDKL5 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs767244 -- 18,634,742(-) TTTAA(G/T)TGTTT intron-variant, utr-variant-3-prime
rs1003600 -- 18,621,963(+) TTTTG(G/T)GGTTT intron-variant
rs1003601 -- 18,621,978(+) TCTAA(A/G)CCACA intron-variant
rs1003602 -- 18,622,090(+) GAGCA(A/G)CATTA intron-variant
rs1015347 -- 18,620,327(-) TAAAC(A/C)AAAAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CDKL5 Gene

Variant ID Type Subtype PubMed ID
nsv6821 CNV Insertion 18451855
nsv528654 CNV Gain 19592680

Relevant External Links for CDKL5 Gene

HapMap Linkage Disequilibrium report
CDKL5
Human Gene Mutation Database (HGMD)
CDKL5
Locus Specific Mutation Databases (LSDB)
CDKL5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDKL5 Gene

Disorders for CDKL5 Gene

(2) OMIM Diseases for CDKL5 Gene (300203)

UniProtKB/Swiss-Prot

CDKL5_HUMAN
  • Note=Chromosomal aberrations involving CDKL5 are found in patients manifesting early-onset seizures and spams and psychomotor impairment. Translocation t(X;6)(p22.3;q14); translocation t(X;7)(p22.3;p15).
  • Epileptic encephalopathy, early infantile, 2 (EIEE2) [MIM:300672]: A severe form of epilepsy characterized by seizures or spasms beginning in infancy. Patients with epileptic encephalopathy early infantile type 2 manifest features resembling Rett syndrome such as microcephaly, lack of speech development, stereotypic hand movements. However, EIEE2 and Rett syndrome are considered two distinct entities. {ECO:0000269 PubMed:12736870, ECO:0000269 PubMed:15492925, ECO:0000269 PubMed:15499549, ECO:0000269 PubMed:15689447, ECO:0000269 PubMed:15917271, ECO:0000269 PubMed:16015284, ECO:0000269 PubMed:16611748, ECO:0000269 PubMed:17993579, ECO:0000269 PubMed:18790821, ECO:0000269 PubMed:18809835, ECO:0000269 PubMed:19241098, ECO:0000269 PubMed:19253388, ECO:0000269 PubMed:24564546}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(8) Novoseek inferred disease relationships for CDKL5 Gene

Disease -log(P) Hits PubMed IDs
rett syndrome 94.3 33
infantile spasms 91.6 27
cryptogenic west syndrome 85.5 1
severe mental retardation 68.7 3
mental retardation 68.5 9

Relevant External Links for CDKL5

Genetic Association Database (GAD)
CDKL5
Human Genome Epidemiology (HuGE) Navigator
CDKL5
genes like me logo Genes that share disorders with CDKL5: view

Publications for CDKL5 Gene

  1. Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation. (PMID: 16935860) Bertani I. … Kilstrup-Nielsen C. (J. Biol. Chem. 2006) 2 3 4 23
  2. Disruption of the serine/threonine kinase 9 gene causes severe X- linked infantile spasms and mental retardation. (PMID: 12736870) Kalscheuer V.M. … Gecz J. (Am. J. Hum. Genet. 2003) 3 4 23
  3. Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. (PMID: 17993579) Rosas-Vargas H. … Bienvenu T. (J. Med. Genet. 2008) 3 4 23
  4. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. (PMID: 15492925) Weaving L.S. … Gecz J. (Am. J. Hum. Genet. 2004) 3 4 23
  5. Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. (PMID: 15499549) Tao J. … Kalscheuer V.M. (Am. J. Hum. Genet. 2004) 3 4 23

Products for CDKL5 Gene

Sources for CDKL5 Gene

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