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CDKL4 Gene

protein-coding   GIFtS: 45
GCID: GC02M039402

Cyclin-Dependent Kinase-Like 4

  Search for CDKL4
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cyclin-Dependent Kinase-Like 41 2
EC 2.7.11.223 8
EC 2.7.118

External Ids:    HGNC: 192871   Entrez Gene: 3443872   Ensembl: ENSG000002051117   UniProtKB: Q5MAI53   

Export aliases for CDKL4 gene to outside databases

Previous GC identifers: GC02M039381 GC02M039317 GC02M039260 GC02M039145


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for CDKL4 Gene:
CDKL4 (cyclin-dependent kinase-like 4) is a protein-coding gene. GO annotations related to this gene include cyclin-dependent protein serine/threonine kinase activity. An important paralog of this gene is CDKL1.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CDKL4 gene promoter:
         HFH-3   STAT1   HSF1 (long)   FOXD3   FOXI1   RORalpha1   Nkx6-1   IRF-7A   HSF1short   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCDKL4 promoter sequence
   Search Chromatin IP Primers for CDKL4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CDKL4


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

Entrez Gene cytogenetic band: 2p22.1   Ensembl cytogenetic band:  2p22.1   HGNC cytogenetic band: 2p22.3

CDKL4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CDKL4 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M039402:  view genomic region     (about GC identifiers)

Start:
39,402,787 bp from pter      End:
39,456,729 bp from pter
Size:
53,943 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CDKL4_HUMAN, Q5MAI5 (See protein sequence)
Recommended Name: Cyclin-dependent kinase-like 4  
Size: 315 amino acids; 36223 Da

Explore the universe of human proteins at neXtProt for CDKL4: NX_Q5MAI5

Explore proteomics data for CDKL4 at MOPED

Selected DME Specific Peptides for CDKL4 (Q5MAI5) (see all 5)
 YVATRWYR  HRDIKPEN  TRWYRAPE  NLVNLIEVFR 


See CDKL4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001009565.1  
ENSEMBL proteins: 
 ENSP00000389833   ENSP00000368080   ENSP00000378476   ENSP00000399213  

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

IUPHAR Guide to PHARMACOLOGY protein family classification: cyclin-dependent kinase-like 4
Cyclin-dependent kinase-like (CDKL) family

4 InterPro protein domains:
 IPR002290 Ser/Thr_dual-sp_kinase_dom
 IPR011009 Kinase-like_dom
 IPR008271 Ser/Thr_kinase_AS
 IPR000719 Prot_kinase_dom

Graphical View of Domain Structure for InterPro Entry Q5MAI5

ProtoNet protein and cluster: Q5MAI5

UniProtKB/Swiss-Prot: CDKL4_HUMAN, Q5MAI5
Domain: The [NKR]KIAxRE motif seems to be a cyclin-binding region
Similarity: Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily
Similarity: Contains 1 protein kinase domain


CDKL4 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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: CDKL4_HUMAN, Q5MAI5
Catalytic activity: ATP + a protein = ADP + a phosphoprotein

     Enzyme Numbers (IUBMB): EC 2.7.11.221 2 EC 2.7.112

     Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0004672protein kinase activity ----
GO:0004674protein serine/threonine kinase activity ----
GO:0004693cyclin-dependent protein serine/threonine kinase activity IEA--
GO:0004713protein tyrosine kinase activity ----
GO:0005524ATP binding IEA--
     
CDKL4 for ontologies           About GeneDecksing


Phenotypes:
     1 GenomeRNAi human phenotype for CDKL4:
 Decreased Salmonella enterica  

Animal Models:
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SwitchGear 3'UTR luciferase reporter plasmidCDKL4 3' UTR sequence
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
CDKL4_HUMAN, Q5MAI5: Cytoplasm (Probable)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol2
mitochondrion2
endoplasmic reticulum1
nucleus1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005737cytoplasm IEA--

CDKL4 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CDKL4
Interactions:

    Search GeneGlobe Interaction Network for CDKL4

Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006468protein phosphorylation ----

CDKL4 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Tocris compounds for CDKL4

2 HMDB Compounds for CDKL4    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--



(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for CDKL4 gene: 
NM_001009565.1  

Unigene Cluster for CDKL4:

Cyclin-dependent kinase-like 4
Hs.403201  [show with all ESTs]
Unigene Representative Sequence: AY845084
4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000451199 ENST00000378803(uc002rrm.3) ENST00000395035(uc010fal.2)
ENST00000419111
miRNA
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hsa-miR-499-3p hsa-miR-488 hsa-miR-450b-5p
SwitchGear 3'UTR luciferase reporter plasmidCDKL4 3' UTR sequence
Inhib. RNA
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  QuantiFast Probe-based Assays in human, mouse, rat CDKL4

Additional mRNA sequence: 

AY845084.1 AY847283.1 BC144460.1 

3 DOTS entries:

DT.120967238  DT.99977524  DT.40300918 

2 AceView cDNA sequences:

AA626859 BU686325 

GeneLoc Exon Structure


(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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CDKL4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AAGGGGTGTC
CDKL4 Expression
About this image


CDKL4 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 2) fully expand
 
 Adipose (Muscoskeletal System)
         Visceral White Adipocytes Visceral White Adipose
 
 Neural Tube (Nervous System)
         Mesencephalic Floor Plate
CDKL4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

CDKL4 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.403201
    Custom PCR Arrays for CDKL4
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In Situ
Assay Products:
 

 
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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)
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This gene was present in the common ancestor of animals.

Orthologs for CDKL4 gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Cdkl41 , 5 cyclin-dependent kinase-like 41, 5 83.07(n)1
90.73(a)1
  17 (50.90 cM)5
3811131  NM_001033443.41  NP_001028615.11 
 805235505 
fruit fly
(Drosophila melanogaster)
Insecta CG72366
--
36(a)
1 → many
2L(5708449-5713648)
worm
(Caenorhabditis elegans)
Secernentea Y42A5A.46
Protein Y42A5A.4, isoform b
38(a)
1 → many
V(11098950-11107276) WBGene00012779


ENSEMBL Gene Tree for CDKL4 (if available)
TreeFam Gene Tree for CDKL4 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for CDKL4 gene
CDKL12  CDK202  CDKL22  CDKL52  CDKL32  CDK72  
Selected SIMAP similar genes for CDKL4 using alignment to 5 protein entries:     CDKL4_HUMAN (see all proteins) (see all similar genes):
CDKL1    CDKL2    CDKL3    CDC2    CDK2    CDK16
CDK1    CDK3    MAP4K1    MAPK7    CDK18    DKFZp686L20222
CDK7    CDK17    CDK15    PCTK1    STK3    STK4

CDKL4 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for CDKL4 (see all 1237)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1157082811,2
C,F--39405238(+) GCTGCA/GTTGGG 1 -- ds50011Minor allele frequency- G:0.03WA 118
rs1444285751,2
--39405363(+) TTTGAC/TTTTTC 1 -- ds50010--------
rs1466305901,2
C--39405404(+) AAAGGC/TTGGGA 1 -- ds50010--------
rs67109891,2
C,F,H--39405457(+) AAGACA/GAATGA 1 -- ds500129Minor allele frequency- G:0.10NA NS EA WA CSA 2032
rs1401884441,2
--39405469(+) TGAAAA/GTTAGA 1 -- ds50010--------
rs176659981,2
C,F,H--39405570(+) TGTTCG/ATCTAC 1 -- ds500122Minor allele frequency- A:0.11NA NS EA 2542
rs1813536911,2
--39405663(+) TGAACC/GAAAAC 1 -- ds50010--------
rs2009540521,2
C,F--39405784(+) CTGTTC/TTGCAA 1 -- ut311Minor allele frequency- T:0.00EU 593
rs1868330551,2
C--39405840(+) ATTCCG/TTTGTA 1 -- ut310--------
rs1450835761,2
C--39405863(+) GGTTT-/ATGAGA 1 -- ut310--------

HapMap Linkage Disequilibrium report for CDKL4 (39402787 - 39456729 bp)

Structural Variations
     Database of Genomic Variants (DGV) 6 variations for CDKL4:    About this table    
Variant IDTypeSubtypePubMed ID
esv2677029CNV Deletion23128226
esv1085195CNV Deletion17803354
esv2719953CNV Deletion23290073
esv2666347CNV Deletion23128226
nsv873885CNV Loss21882294
nsv833847CNV Loss17160897

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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CDKL4 for disorders           About GeneDecksing

Genetic Association Database (GAD): CDKL4
Human Genome Epidemiology (HuGE) Navigator: CDKL4 (1 document)

Export disorders for CDKL4 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)
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PubMed articles for CDKL4 gene integrated from 10 sources:
(articles sorted by number of sources associating them with CDKL4)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. (PubMed id 19241098)1, 4 Russo S.... Larizza L. (Neurogenetics 2009)
  2. Patterns of somatic mutation in human cancer genomes. (PubMed id 17344846)2 Greenman C.... Stratton M.R. (Nature 2007)
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  4. (PubMed id )2 

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 344387 HGNC: 19287 AceView: CDKL4 Ensembl:ENSG00000205111 euGenes: HUgn344387
ECgene: CDKL4 H-InvDB: CDKL4

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for CDKL4 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for CDKL4 gene:
Search GeneIP for patents involving CDKL4

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



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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