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] See more...

Aliases for CDKL5 Gene

Aliases for CDKL5 Gene

  • Cyclin Dependent Kinase Like 5 2 3 5
  • Cyclin-Dependent Kinase-Like 5 2 3 4
  • Serine/Threonine-Protein Kinase 9 3 4
  • Serine/Threonine Kinase 9 2 3
  • EC 2.7.11.22 4 52
  • STK9 3 4
  • Cyclin Dependent Kinase 5 Transcript 3
  • EC 2.7.11 52
  • CFAP247 3
  • EIEE2 3
  • ISSX 3

External Ids for CDKL5 Gene

Previous HGNC Symbols for CDKL5 Gene

  • STK9

Previous GeneCards Identifiers for CDKL5 Gene

  • GC0XP017109
  • GC0XP017645
  • GC0XP017805
  • GC0XP018203
  • GC0XP018353
  • GC0XP018443
  • 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 Rett Syndrome. Among its related pathways are Sweet Taste Signaling and Brain-Derived Neurotrophic Factor (BDNF) signaling pathway. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is CDKL2.

UniProtKB/Swiss-Prot Summary for CDKL5 Gene

  • Mediates phosphorylation of MECP2 (PubMed:15917271, PubMed:16935860). May regulate ciliogenesis (PubMed:29420175).

Gene Wiki entry for CDKL5 Gene

Additional gene information for CDKL5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CDKL5 Gene

Genomics for CDKL5 Gene

GeneHancer (GH) Regulatory Elements for CDKL5 Gene

Promoters and enhancers for CDKL5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ018424 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.7 718 4.2 EP300 NRF1 POLR2G SP1 ZNF10 POLR2A ZBTB10 ZBTB11 ZNF423 ZBTB26 CDKL5 RF00017-8189
GH0XJ018501 Promoter 0.3 EPDnew 500.2 +76.0 75968 0.1 CDKL5 piR-57801-029 GJA6P
GH0XJ018674 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas 1.7 +249.6 249618 2.4 ZBTB40 ZSCAN5C TCF12 USF1 FOS ZFX ZNF639 REST POLR2A ZBTB11 PPEF1 TRV-TAC1-2 lnc-PPEF1-2 CDKL5 PHKA2
GH0XJ018421 Enhancer 0.8 Ensembl ENCODE 0.7 -3.1 -3123 1.1 TCF12 JUND FOS ATF2 CREB1 BRCA1 FOSL2 JUN SIN3A JUNB CDKL5 FJ601678-184
GH0XJ018432 Enhancer 0.4 Ensembl 0.4 +9.5 9518 5 GATA3 SPI1 FOS RF00017-8189 CDKL5 RF00017-8190
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CDKL5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CDKL5

Top Transcription factor binding sites by QIAGEN in the CDKL5 gene promoter:
  • Cart-1
  • FOXD3
  • FOXL1
  • HFH-1
  • Hlf
  • Sox5

Genomic Locations for CDKL5 Gene

Genomic Locations for CDKL5 Gene
chrX:18,425,583-18,660,858
(GRCh38/hg38)
Size:
235,276 bases
Orientation:
Plus strand
chrX:18,443,703-18,671,749
(GRCh37/hg19)
Size:
228,047 bases
Orientation:
Plus strand

Genomic View for CDKL5 Gene

Genes around CDKL5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDKL5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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.
    Miscellaneous:
    • [Isoform 2]: Predominant transcript in brain.
    SequenceCaution:
    • Sequence=CAA61445.1; Type=Frameshift; 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

Selected DME Specific Peptides for CDKL5 Gene

O76039:
  • YVATRWYR
  • SEIDQLF
  • PYGKSVD
  • WSVGCIL
  • HRDIKPEN
  • KLYLVFE

Post-translational modifications for CDKL5 Gene

Domains & Families for CDKL5 Gene

Gene Families for CDKL5 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for CDKL5 Gene

Suggested Antigen Peptide Sequences for CDKL5 Gene

GenScript: Design optimal peptide antigens:
  • Serine/threonine-protein kinase 9 (CDKL5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O76039

UniProtKB/Swiss-Prot:

CDKL5_HUMAN :
  • Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.
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 Function:
Mediates phosphorylation of MECP2 (PubMed:15917271, PubMed:16935860). May regulate ciliogenesis (PubMed:29420175).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.22;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.22;.

Enzyme Numbers (IUBMB) for CDKL5 Gene

Phenotypes From GWAS Catalog 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,IEA 16935860
GO:0004674 protein serine/threonine kinase activity TAS 9721213
GO:0004693 cyclin-dependent protein serine/threonine kinase activity IEA --
GO:0005524 ATP binding IDA,IEA 16935860
GO:0016301 kinase activity IDA 15917271
genes like me logo Genes that share ontologies with CDKL5: view
genes like me logo Genes that share phenotypes with CDKL5: view

Human Phenotype Ontology for CDKL5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CDKL5 Gene

MGI Knock Outs for CDKL5:

Animal Model Products

  • Taconic Biosciences Mouse Models for CDKL5

miRNA for CDKL5 Gene

miRTarBase miRNAs that target CDKL5

Clone Products

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

Localization for CDKL5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDKL5 Gene

Nucleus. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CDKL5 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
plasma membrane 3
cytosol 3
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 IEA --
GO:0005813 centrosome IDA 29420175
GO:0005815 microtubule organizing center IEA --
genes like me logo Genes that share ontologies with CDKL5: view

Pathways & Interactions 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
  • Sperm Motility
1 GeneTex pathway for CDKL5 Gene

SIGNOR curated interactions for CDKL5 Gene

Activates:
Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for CDKL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration ISS,IEA --
GO:0006468 protein phosphorylation IEA,IBA 21873635
GO:0016310 phosphorylation IEA --
GO:0043547 positive regulation of GTPase activity IEA,ISS --
GO:0045773 positive regulation of axon extension ISS,IEA --
genes like me logo Genes that share ontologies with CDKL5: view

Drugs & Compounds for CDKL5 Gene

(5) Drugs for CDKL5 Gene - From: ClinicalTrials and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0
Anesthetics Pharma 13788
Anticonvulsants Pharma 3402
Central Nervous System Depressants Pharma 18395
Pregnanolone Pharma 41

(1) Additional Compounds for CDKL5 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with CDKL5: view

Transcripts for CDKL5 Gene

mRNA/cDNA for CDKL5 Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
1 RNACentral transcripts :

Clone 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

Expression for CDKL5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CDKL5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CDKL5 Gene

This gene is overexpressed in Nasal epithelium (55.5) and Plasma (11.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CDKL5 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CDKL5

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.

Evidence on tissue expression from TISSUES for CDKL5 Gene

  • Nervous system(3.1)
  • Lung(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CDKL5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • salivary gland
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
Limb:
  • arm
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with CDKL5: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners 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 31 30
  • 98.7 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CDKL5 31 30
  • 92.51 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CDKL5 31 30
  • 92.07 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cdkl5 17 31 30
  • 89.38 (n)
rat
(Rattus norvegicus)
Mammalia Cdkl5 30
  • 89.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CDKL5 31
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CDKL5 31
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves CDKL5 31 30
  • 79.68 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CDKL5 31
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cdkl5 30
  • 72.62 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.22826 30
zebrafish
(Danio rerio)
Actinopterygii cdkl5 31 30
  • 65.86 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG6800 31
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dyf-18 31
  • 31 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KIN28 31
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 71 (a)
OneToOne
Species where no ortholog for CDKL5 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CDKL5: view image

Paralogs for CDKL5 Gene

(17) SIMAP similar genes for CDKL5 Gene using alignment to 1 proteins:

  • CDKL5_HUMAN
genes like me logo Genes that share paralogs with CDKL5: view

Variants for CDKL5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CDKL5 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
189588 Pathogenic: Early infantile epileptic encephalopathy 2 18,580,504(+) CTGCAGTTGCAGGCAT SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT
642094 Uncertain Significance: Early infantile epileptic encephalopathy 2; Angelman syndrome-like 18,653,485(+) CAGGTAAACCA/C FRAMESHIFT_VARIANT,INTRON_VARIANT
642554 Uncertain Significance: Early infantile epileptic encephalopathy 2; Angelman syndrome-like 18,625,159(+) C/T MISSENSE_VARIANT
643438 Pathogenic: Early infantile epileptic encephalopathy 2; Angelman syndrome-like 18,628,694(+) CT/C FRAMESHIFT_VARIANT,INTRON_VARIANT
645940 Uncertain Significance: Early infantile epileptic encephalopathy 2; Angelman syndrome-like 18,608,879(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for CDKL5 Gene

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

Variant ID Type Subtype PubMed ID
esv3359808 CNV insertion 20981092
esv3573625 CNV loss 25503493
esv3573626 CNV loss 25503493
esv3576792 CNV gain 25503493
nsv476338 CNV novel sequence insertion 20440878
nsv528654 CNV gain 19592680
nsv6821 CNV insertion 18451855

Variation tolerance for CDKL5 Gene

Residual Variation Intolerance Score: 2.51% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.59; 44.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CDKL5 Gene

Human Gene Mutation Database (HGMD)
CDKL5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDKL5

SNP Genotyping and Copy Number Assay Products

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

Disorders for CDKL5 Gene

MalaCards: The human disease database

(45) MalaCards diseases for CDKL5 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 2
  • eiee2
rett syndrome
  • rtt
early infantile epileptic encephalopathy
  • early infantile epileptic encephalopathy with burst-suppression
bruxism
  • bruxism - teeth grinding
focal epilepsy
  • localisation-related epilepsy
- elite association - COSMIC cancer census association via MalaCards
Search CDKL5 in MalaCards View complete list of genes associated with diseases

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:16935860, ECO:0000269 PubMed:17993579, ECO:0000269 PubMed:18790821, ECO:0000269 PubMed:18809835, ECO:0000269 PubMed:19241098, ECO:0000269 PubMed:19253388, ECO:0000269 PubMed:23662938, ECO:0000269 PubMed:23708187, ECO:0000269 PubMed:24564546, ECO:0000269 PubMed:26993267, ECO:0000269 PubMed:27864847}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CDKL5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CDKL5: view

No data available for Genatlas for CDKL5 Gene

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 (The Journal of biological chemistry 2006) 2 3 4 23 54
  2. Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. (PMID: 19780792) Mei D … Guerrini R (Epilepsia 2010) 3 23 41 54
  3. Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. (PMID: 19241098) Russo S … Larizza L (Neurogenetics 2009) 3 4 23 54
  4. [Methyl-CpG-binding protein 2 gene and CDKL5 gene mutation in patients with Rett syndrome: analysis of 177 Chinese pediatric patients]. (PMID: 19552836) Li MR … Wu XR (Zhonghua yi xue za zhi 2009) 3 23 41 54
  5. Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. (PMID: 19793311) Nemos C … Philippe C (Clinical genetics 2009) 3 23 41 54

Products for CDKL5 Gene

Sources for CDKL5 Gene