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    CDKL5 cyclin dependent kinase like 5 [ Homo sapiens (human) ]

    Gene ID: 6792, updated on 10-Dec-2017
    Official Symbol
    CDKL5provided by HGNC
    Official Full Name
    cyclin dependent kinase like 5provided by HGNC
    Primary source
    HGNC:HGNC:11411
    See related
    Ensembl:ENSG00000008086 MIM:300203; Vega:OTTHUMG00000021214
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ISSX; STK9; EIEE2; CFAP247
    Summary
    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]
    Expression
    Broad expression in brain (RPKM 11.1), lung (RPKM 3.0) and 18 other tissues See more
    Orthologs
    Location:
    Xp22.13
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (18425605..18653629)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (18443725..18671749)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene BEN domain containing 2 Neighboring gene Scm polycomb group protein like 2 Neighboring gene thymosin beta 10 pseudogene 2 Neighboring gene gap junction protein alpha 6 pseudogene Neighboring gene transfer RNA-Val (TAC) 1-2 Neighboring gene PPEF1 antisense RNA 1 Neighboring gene retinoschisin 1 Neighboring gene protein phosphatase with EF-hand domain 1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Angelman syndrome-like
    MedGen: CN128785 GeneReviews: Not available
    Compare labs
    Early infantile epileptic encephalopathy 2
    MedGen: C1839333 OMIM: 300672 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-07-12)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-07-12)

    ClinGen Genome Curation PagePubMed
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Rac GTPase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    NOT cyclin-dependent protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein serine/threonine kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    neuron migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of GTPase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of axon extension IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    positive regulation of axon extension ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of dendrite morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of dendritic spine development IEA
    Inferred from Electronic Annotation
    more info
     
    protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein phosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of dendrite development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of dendrite development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    dendrite cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    dendrite cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    dendritic growth cone ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    colocalizes_with ruffle membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    synapse IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    cyclin-dependent kinase-like 5
    Names
    cyclin dependent kinase 5 transcript
    serine/threonine kinase 9
    serine/threonine-protein kinase 9
    NP_001032420.1
    NP_001310218.1
    NP_003150.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008475.1 RefSeqGene

      Range
      5001..233025
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001037343.1NP_001032420.1  cyclin-dependent kinase-like 5 isoform 1

      See identical proteins and their annotated locations for NP_001032420.1

      Status: REVIEWED

      Source sequence(s)
      AI286150, AL704691, AY217744, BC036091
      Consensus CDS
      CCDS14186.1
      UniProtKB/Swiss-Prot
      O76039
      Related
      ENSP00000369325.3, OTTHUMP00000023002, ENST00000379989.6, OTTHUMT00000055945
      Conserved Domains (2) summary
      smart00220
      Location:13297
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd07848
      Location:11297
      STKc_CDKL5; Catalytic domain of the Serine/Threonine Kinase, Cyclin-Dependent protein Kinase Like 5
    2. NM_001323289.1NP_001310218.1  cyclin-dependent kinase-like 5 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL109798, AW452901, HQ171445, Z92542
      Consensus CDS
      CCDS83458.1
      UniProtKB/Swiss-Prot
      O76039
      Related
      ENSP00000485244.1, OTTHUMP00000278131, ENST00000623535.1, OTTHUMT00000479617
      Conserved Domains (2) summary
      smart00220
      Location:13297
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd07848
      Location:11297
      STKc_CDKL5; Catalytic domain of the Serine/Threonine Kinase, Cyclin-Dependent protein Kinase Like 5
    3. NM_003159.2NP_003150.1  cyclin-dependent kinase-like 5 isoform 1

      See identical proteins and their annotated locations for NP_003150.1

      Status: REVIEWED

      Source sequence(s)
      AI286150, AY217744, BC010966
      Consensus CDS
      CCDS14186.1
      UniProtKB/Swiss-Prot
      O76039
      Related
      ENSP00000369332.3, OTTHUMP00000023003, ENST00000379996.7, OTTHUMT00000055946
      Conserved Domains (2) summary
      smart00220
      Location:13297
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd07848
      Location:11297
      STKc_CDKL5; Catalytic domain of the Serine/Threonine Kinase, Cyclin-Dependent protein Kinase Like 5

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      18425605..18653629
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      18474049..18702829
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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