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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CDKL5 Gene

protein-coding   GIFtS: 64
GCID: GC0XP018443

Cyclin-Dependent Kinase-Like 5

(Previous name: serine/threonine kinase 9)
(Previous symbol: STK9)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Cyclin-Dependent Kinase-Like 51 2     EIEE22 5
STK91 2 3 5     ISSX2 5
Serine/Threonine Kinase 91 2     Cyclin Dependent Kinase 5 Transcript2
Serine/Threonine-Protein Kinase 92 3     EC 2.7.118
EC 2.7.11.223 8     

External Ids:    HGNC: 114111   Entrez Gene: 67922   Ensembl: ENSG000000080867   OMIM: 3002035   UniProtKB: O760393   

Export aliases for CDKL5 gene to outside databases

Previous GC identifers: GC0XP017109 GC0XP017645 GC0XP017805 GC0XP018203 GC0XP018353 GC0XP016199


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 west syndrome, and epileptic encephalopathy, early infantile, 2, and among its related super-pathways are Cellular Effects of Sildenafil. GO annotations related to this gene include protein serine/threonine kinase activity and kinase activity. An important paralog of this gene is CDKL1.

UniProtKB/Swiss-Prot: CDKL5_HUMAN, O76039
Function: Mediates phosphorylation of MECP2

Gene Wiki entry for CDKL5 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_167197.1  NC_018934.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CDKL5 gene promoter:
         Sox5   HFH-1   Cart-1   FOXD3   Hlf   FOXL1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCDKL5 promoter sequence
   Search SABiosciences Chromatin IP Primers for CDKL5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CDKL5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp22   Ensembl cytogenetic band:  Xp22.13   HGNC cytogenetic band: Xp22

CDKL5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CDKL5 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP018443:  view genomic region     (about GC identifiers)

Start:
18,443,703 bp from pter      End:
18,671,749 bp from pter
Size:
228,047 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CDKL5_HUMAN, O76039 (See protein sequence)
Recommended Name: Cyclin-dependent kinase-like 5  
Size: 1030 amino acids; 115538 Da
Subunit: Interacts with MECP2
Subcellular location: Nucleus
Caution: It is uncertain whether Met-1 or Met-10 is the initiator
Sequence caution: Sequence=CAA61445.1; Type=Frameshift; Positions=415;
1 PDB 3D structure from and Proteopedia for CDKL5:
4BGQ (3D)    
Secondary accessions: G9B9X4 Q14198 Q5H985 Q8IYC7 Q9UJL6
Alternative splicing: 2 isoforms:  O76039-1   O76039-2   (Predominant transcript in brain)

Explore the universe of human proteins at neXtProt for CDKL5: NX_O76039

Explore proteomics data for CDKL5 at MOPED 

Post-translational modifications:

  • UniProtKB: Autophosphorylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O76039

  • 4/6 DME Specific Peptides for CDKL5 (O76039) (see all 6)
     WSVGCIL  SEIDQLF  KLYLVFE  PYGKSVD 

    CDKL5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CDKL5 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001032420.1  NP_003150.1  

    ENSEMBL proteins: 
     ENSP00000369332   ENSP00000369325  

    Human Recombinant Protein Products for CDKL5: 
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    Cloud-Clone Corp. Proteins for CDKL5 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0032587colocalizes with ruffle membrane ISS--
    GO:0032839dendrite cytoplasm ISS--

    CDKL5 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CDK: Cyclin-dependent kinases

    IUPHAR Guide to PHARMACOLOGY protein family classification: cyclin-dependent kinase-like 5 
    Cyclin-dependent kinase-like (CDKL) family

    5 InterPro protein domains:
     IPR017441 Protein_kinase_ATP_BS
     IPR002290 Ser/Thr_dual-sp_kinase_dom
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR000719 Prot_kinase_cat_dom

    Graphical View of Domain Structure for InterPro Entry O76039

    ProtoNet protein and cluster: O76039

    UniProtKB/Swiss-Prot: CDKL5_HUMAN, O76039
    Similarity: Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily
    Similarity: Contains 1 protein kinase domain


    CDKL5 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CDKL5_HUMAN, O76039
    Function: Mediates phosphorylation of MECP2
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein

         Enzyme Numbers (IUBMB): EC 2.7.11.221 2 EC 2.7.112

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity IDA16935860
    GO:0004674protein serine/threonine kinase activity TAS9721213
    GO:0004693cyclin-dependent protein serine/threonine kinase activity IEA--
    GO:0004713protein tyrosine kinase activity ----
    GO:0005524ATP binding IDA16935860
         
    CDKL5 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for CDKL5:
     Decreased focal adhesion (FA)   Decreased substrate adherent c  Increased cell death in HCC-19  Increased colony dispersion (i 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cdkl5):
     behavior/neurological  nervous system  taste/olfaction 

    CDKL5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cdkl5tm1.1Joez for CDKL5

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CDKL5 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CDKL5 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Sweet Taste Signaling
    Sperm Motility0.37
    2BDNF signaling pathway
    BDNF signaling pathway

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for CDKL5
        Sperm Motility

    1 BioSystems Pathway for CDKL5
        BDNF signaling pathway



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CDKL5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/8 Interacting proteins for CDKL5 (O760392, 3 ENSP000003693254) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABL1P005192, 3, ENSP000003614234MINT-8110107 I2D: score=3 STRING: ENSP00000361423
    FYNP062412, 3, ENSP000003576564MINT-8111019 I2D: score=3 STRING: ENSP00000357656
    MECP2P516083, ENSP000003955354I2D: score=1 STRING: ENSP00000395535
    GRB2P629933, ENSP000003390074I2D: score=2 STRING: ENSP00000339007
    MGMTENSP000003021114STRING: ENSP00000302111
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001764neuron migration ISS--
    GO:0006468protein phosphorylation TAS9721213
    GO:0032855positive regulation of Rac GTPase activity ISS--
    GO:0045773positive regulation of axon extension ISS--
    GO:0046777protein autophosphorylation IDA16935860

    CDKL5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for CDKL5

    2 HMDB Compounds for CDKL5    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--

    Search CenterWatch for drugs/clinical trials and news about CDKL5

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CDKL5 gene (2 alternative transcripts): 
    NM_001037343.1  NM_003159.2  

    Unigene Cluster for CDKL5:

    Cyclin-dependent kinase-like 5
    Hs.659851  [show with all ESTs]
    Unigene Representative Sequence: BC036091
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379996(uc022btn.1 uc004cym.3) ENST00000379989(uc004cyn.3)
    ENST00000463994
    miRNA
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    Additional mRNA sequence: 

    AK056879.1 AK307444.1 AY217744.1 BC010966.1 BC036091.1 HQ171445.1 X89059.1 Y15057.1 

    4 DOTS entries:

    DT.409032  DT.97771331  DT.95234867  DT.75136827 

    22 AceView cDNA sequences:

    Y15057 NM_003159 AY217744 BC010966 AI569744 CD675032 AA398911 BI559845 
    X89059 BC036091 W07775 BE831003 AK056879 BX096833 AL704691 CB153498 
    AI582736 AA403214 AI286150 N80713 BF679133 AA228740 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for CDKL5    About this scheme

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


    ECgene alternative splicing isoforms for CDKL5

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CDKL5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAGAACCAA
    CDKL5 Expression
    About this image


    See CDKL5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CDKL5

    SOURCE GeneReport for Unigene cluster: Hs.659851

    UniProtKB/Swiss-Prot: CDKL5_HUMAN, O76039
    Tissue specificity: Expressed in brain, lung, kidney, prostate, ovary, placenta, pancreas and testis

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for CDKL5 gene from 13 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chimpanzee
    (Pan troglodytes)
    Mammalia CDKL51 cyclin-dependent kinase-like 5 98.74(n)
    98.56(a)
      473529  XM_003317382.1  XP_003317430.1 
    mouse
    (Mus musculus)
    Mammalia Cdkl51 , 5 cyclin-dependent kinase-like 51, 5 89.38(n)1
    95.8(a)1
      X (73.95 cM)5
    3822531  NM_001024624.21  NP_001019795.11 
     1607843085 
    rat
    (Rattus norvegicus)
    Mammalia Cdkl51 cyclin-dependent kinase-like 5 89.12(n)
    96.02(a)
      100362725  XM_002730232.1  XP_002730278.1 
    cow
    (Bos taurus)
    Mammalia CDKL51 cyclin-dependent kinase-like 5 91.79(n)
    97.21(a)
      538337  XM_002700379.1  XP_002700425.1 
    dog
    (Canis familiaris)
    Mammalia CDKL51 cyclin-dependent kinase-like 5 92.51(n)
    97.9(a)
      491761  XM_548881.3  XP_548881.2 
    oppossum
    (Monodelphis domestica)
    Mammalia CDKL56
    cyclin-dependent kinase-like 5
    80(a)
    1 ↔ 1
    7(20403325-20678866)
    platypus
    (Ornithorhynchus anatinus)
    Mammalia CDKL56
    cyclin-dependent kinase-like 5
    80(a)
    1 ↔ 1
    Ultra462(1846417-1935559)
    chicken
    (Gallus gallus)
    Aves CDKL51 cyclin-dependent kinase-like 5 79.68(n)
    83.54(a)
      428001  XM_425571.2  XP_425571.2 
    lizard
    (Anolis carolinensis)
    Reptilia CDKL56
    cyclin-dependent kinase-like 5
    74(a)
    1 ↔ 1
    3(122890920-123000894)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.228262 Xenopus laevis transcribed sequence with strong similarity more 84.46(n)    BJ059534.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cdkl51 cyclin-dependent kinase-like 5 65.23(n)
    66.36(a)
      559341  NM_001130771.1  NP_001124243.1 
    sea squirt
    (Ciona savignyi)
    Ascidiacea --
    Uncharacterized protein
    70(a)
    1 ↔ 1
    reftig_17(597258-603448)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SGV16
    Cyclin (Bur2p)-dependent protein kinase that funct...
    19(a)
    1 → many
    XVI(864449-866422)
            Species with no ortholog for CDKL5

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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CDKL5 gene
    CDKL12  CDKL22  CDKL32  CDKL42  
    17 SIMAP similar genes for CDKL5 using alignment to 1 protein entry:     CDKL5_HUMAN:
    CDK2    CDK3    CDK7    CDKL2    PCTK1    MAPK1
    CDK6    CDK4    CDK10    GSK3B    MAPK12    MAPK14
    MAPK11    MAPK13    CDK9    MAPK8    MOK

    CDKL5 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2742 SNPs in CDKL5 are shown (see all 2742)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0580284
    Epileptic encephalopathy, early infantile, 2 (EIEE2)4--see VAR_0580282 T I mis40--------
    VAR_0580254
    Epileptic encephalopathy, early infantile, 2 (EIEE2)4--see VAR_0580252 H R mis40--------
    VAR_0580224
    Epileptic encephalopathy, early infantile, 2 (EIEE2)4--see VAR_0580222 A V mis40--------
    VAR_0580304
    Epileptic encephalopathy, early infantile, 2 (EIEE2)4--see VAR_0580302 N T mis40--------
    VAR_0376354
    Epileptic encephalopathy, early infantile, 2 (EIEE2)4--see VAR_0376352 P L mis40--------
    VAR_0419984
    An ovarian serous carcinoma sample4--see VAR_0419982 P Q mis40--------
    VAR_0376364
    Epileptic encephalopathy, early infantile, 2 (EIEE2)4--see VAR_0376362 V A mis40--------
    VAR_0419974
    A metastatic melanoma sample4--see VAR_0419972 A T mis40--------
    VAR_0365784
    A colorectal cancer sample4--see VAR_0365782 N H mis40--------
    VAR_0580294
    Epileptic encephalopathy, early infantile, 2 (EIEE2)4--see VAR_0580292 C Y mis40--------

    HapMap Linkage Disequilibrium report for CDKL5 (18443703 - 18671749 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CDKL5:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv6821CNV Insertion18451855
    nsv528654CNV Gain19592680


    Human Gene Mutation Database (HGMD): CDKL5

    Locus Specific Mutation Databases (LSDB): CDKL5
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for CDKL5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300203   
    OMIM disorders: 300672  105830  
    UniProtKB/Swiss-Prot: CDKL5_HUMAN, O76039
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20 diseases for CDKL5:    About MalaCards
    west syndrome    epileptic encephalopathy, early infantile, 2    angelman syndrome-like    cdkl5-related angelman-like syndrome
    epileptic encephalopathy, early infantile, 1    gait apraxia    rett syndrome    seizure disorder
    aicardi syndrome    angelman syndrome    precocious puberty    apraxia
    was-related disorders    microcephaly    brain disease    intellectual disability
    mental retardation    cataract    neuronitis    prostatitis

    6 diseases from the University of Copenhagen DISEASES database for CDKL5:
    Rett syndrome     Intellectual disability     Aicardi syndrome     Microcephaly
    Gait apraxia     Brain disease

    CDKL5 for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for CDKL5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rett syndrome 94.3 46 19740913 (2), 18701457 (2), 16813600 (2), 19241098 (2) (see all 26)
    infantile spasms 91.6 43 16806828 (2), 15689447 (2), 17049193 (2), 16935860 (2) (see all 21)
    cryptogenic west syndrome 85.5 1 16806828 (1)
    severe mental retardation 68.7 3 20513142 (1), 12736870 (1), 16015284 (1)
    mental retardation 68.5 12 16935860 (2), 15492925 (2), 20397747 (1), 15499549 (1) (see all 7)
    encephalopathy 67.7 19 17256798 (2), 17993579 (2), 19780792 (2), 19740913 (1) (see all 11)
    epilepsy 65.3 34 18266744 (5), 19780792 (3), 19428276 (2), 16326141 (2) (see all 14)
    myoclonic seizure 63.2 2 16326141 (1), 17049193 (1)

    Genetic Association Database (GAD): CDKL5
    Human Genome Epidemiology (HuGE) Navigator: CDKL5 (11 documents)

    Export disorders for CDKL5 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CDKL5 gene, integrated from 9 sources (see all 81):
    (articles sorted by number of sources associating them with CDKL5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation. (PubMed id 16935860)1, 2, 3, 9 Bertani I.... Kilstrup-Nielsen C. (2006)
    2. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. (PubMed id 16611748)1, 2, 4 Archer H.L....Osborne J. (2006)
    3. Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region. (PubMed id 9721213)1, 2, 3 Montini E.... Franco B. (1998)
    4. Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. (PubMed id 19780792)1, 4, 9 Mei D....Guerrini R. (2010)
    5. CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. (PubMed id 15917271)1, 2, 9 Mari F.... Landsberger N. (2005)
    6. Mutational spectrum of CDKL5 in early-onset encephalo pathies: a study of a large collection of French patients and review of the lit erature. (PubMed id 19793311)1, 4, 9 Nemos C....Philippe C. (2009)
    7. Key clinical features to identify girls with CDKL5 mutations. (PubMed id 18790821)1, 2, 9 Bahi-Buisson N.... Bienvenu T. (2008)
    8. Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. (PubMed id 17993579)1, 2, 9 Rosas-Vargas H.... Bienvenu T. (2008)
    9. [Methyl-CpG-binding protein 2 gene and CDKL5 gene mut ation in patients with Rett syndrome: analysis of 177 Chinese pediatric patient s] (PubMed id 19552836)1, 4, 9 Li M.R....Wu X.R. (2009)
    10. Early onset seizures and Rett-like features associated with mutations in CDKL5. (PubMed id 16015284)1, 2, 9 Evans J.C.... Clarke A.J. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6792 HGNC: 11411 AceView: CDKL5 Ensembl:ENSG00000008086 euGenes: HUgn6792
    ECgene: CDKL5 H-InvDB: CDKL5

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CDKL5 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CDKL5

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CDKL5 gene:
    Search GeneIP for patents involving CDKL5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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