CDKL5 Gene

Aliases
for CDKL5 gene

(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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Previous GC identifers: GC0XP017109 GC0XP017645 GC0XP017805 GC0XP018203 GC0XP018353 GC0XP016199

Summaries
for CDKL5 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000023.10  NT_167197.2  NC_018934.2  

SwitchGear Promoter luciferase reporter plasmid: CDKL5 promoter sequence

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CDKL5

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


GeneLoc information about chromosome X         GeneLoc Exon Structure

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

Proteins
for CDKL5 gene

(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, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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1 PDB 3D structure from and Proteopedia for CDKL5:

4BGQ (3D)    

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

Explore proteomics data for CDKL5 at MOPED

Post-translational modifications: 

CDKL5 Human Recombinant Protein Products:

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	antibodies-online peptides for CDKL5

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	antibodies-online kits for CDKL5 (4 products)

Domains /
Families
for CDKL5 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: O76039

Find genes that share domains with CDKL5           About GenesLikeMe

Function
for CDKL5 gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Enzyme Numbers (IUBMB): EC 2.7.11.22^{1 2} EC 2.7.11²

     Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

(inferred from 1 allele) (MGI details for Cdkl5)

genOway: Develop your customized and physiologically relevant rodent model for CDKL5

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Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for CDKL5

Clone Products:		OriGene clones in human, mouse for CDKL5 (see all 14) OriGene ORF clones in mouse, rat for CDKL5 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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		Sino Biological Human cDNA Clone for CDKL5
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CDKL5

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDKL5

Localization
for CDKL5 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
nucleus	5
cytosol	2

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Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

Pathways & Interactions
for CDKL5 gene

(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 GenesLikeMe, 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, Sets of similar genes according to GenesLikeMe)
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SuperPaths for CDKL5 About     See pathways by source

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	SuperPath	Contained pathways About
1	Sweet Taste Signaling	Sperm Motility 0.37
2	BDNF signaling pathway	BDNF signaling pathway

1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for CDKL5

Sperm Motility

1 BioSystems Pathway for CDKL5

BDNF signaling pathway

Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

Drugs & Compounds
for CDKL5 gene

(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, Sets of similar genes according to GenesLikeMe)
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Transcripts
for CDKL5 gene

(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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for CDKL5 gene

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

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Brain (Nervous System)    fully expand to see all 2 entries
Cerebral Cortex
Trophoblast (Extraembryonic Tissues)
Trophoblast Cells Trophoblast
Testis (Reproductive System)
Leydig Cells Testis Interstitium
Bone (Muscoskeletal System)
Bone Marrow

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDKL5

Orthologs
for CDKL5 gene

(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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Paralogs
for CDKL5 gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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Paralogs for CDKL5 gene

CDKL1²  CDK20²  CDKL2²  CDKL3²  CDK7²  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

Find genes that share paralogs with CDKL5           About GenesLikeMe

Genomic Variants
for CDKL5 gene

(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 CDKL5 (see all 2742)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
VAR_0580284		Epileptic encephalopathy, early infantile, 2 (EIEE2)4	--	see VAR_058028	2	T I	mis4		0	--	--	--	--
VAR_0580254		Epileptic encephalopathy, early infantile, 2 (EIEE2)4	--	see VAR_058025	2	H R	mis4		0	--	--	--	--
VAR_0580224		Epileptic encephalopathy, early infantile, 2 (EIEE2)4	--	see VAR_058022	2	A V	mis4		0	--	--	--	--
VAR_0580304		Epileptic encephalopathy, early infantile, 2 (EIEE2)4	--	see VAR_058030	2	N T	mis4		0	--	--	--	--
VAR_0376354		Epileptic encephalopathy, early infantile, 2 (EIEE2)4	--	see VAR_037635	2	P L	mis4		0	--	--	--	--
VAR_0419984		An ovarian serous carcinoma sample4	--	see VAR_041998	2	P Q	mis4		0	--	--	--	--
VAR_0419974		A metastatic melanoma sample4	--	see VAR_041997	2	A T	mis4		0	--	--	--	--
VAR_0365784		A colorectal cancer sample4	--	see VAR_036578	2	N H	mis4		0	--	--	--	--
VAR_0580294		Epileptic encephalopathy, early infantile, 2 (EIEE2)4	--	see VAR_058029	2	C Y	mis4		0	--	--	--	--
VAR_0235614		Epileptic encephalopathy, early infantile, 2 (EIEE2)4	--	see VAR_023561	2	R S	mis4		0	--	--	--	--

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

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for CDKL5:    About this table    

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

Human Gene Mutation Database (HGMD): CDKL5
Locus Specific Mutation Databases (LSDB): CDKL5

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing CDKL5

DNA2.0 Custom Variant and Variant Library Synthesis for CDKL5

Disorders / Diseases
for CDKL5 gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
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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. Note=The disease is caused

by mutations affecting the gene represented in this entry

10 diseases for CDKL5:    
About MalaCards

8 Novoseek inferred disease relationships for CDKL5 gene    About this table

Publications
for CDKL5 gene

(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 CDKL5 gene, integrated from 10 sources (see all 85): (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. (J. Biol. Chem. 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. (J. Med. Genet. 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. (Genomics 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. (Epilepsia 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. (Hum. Mol. Genet. 2005)
6. Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. (PubMed id 19793311)^{1, 4, 9} Nemos C....Philippe C. (Clin. Genet. 2009)
7. Key clinical features to identify girls with CDKL5 mutations. (PubMed id 18790821)^{1, 2, 9} Bahi-Buisson N.... Bienvenu T. (Brain 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. (J. Med. Genet. 2008)
9. [Methyl-CpG-binding protein 2 gene and CDKL5 gene mutation in patients with Rett syndrome: analysis of 177 Chinese pediatric patients]. (PubMed id 19552836)^{1, 4, 9} Li M.R....Wu X.R. (Zhonghua Yi Xue Za Zhi 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. (Eur. J. Hum. Genet. 2005)

External Searches for CDKL5 gene

Genome Databases showing CDKL5 gene

Other Databases showing CDKL5 gene

Specialized Databases showing CDKL5 gene

Products
for CDKL5 gene

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Advanced Cell Diagnostics, Animal models from genOway)
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