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CDKL5 Gene

protein-coding GIFtS: 65
GCID: GC0XP018443

Cyclin-Dependent Kinase-Like 5

(Previous name: serine/threonine kinase 9)
(Previous symbol: STK9)

See related diseases
at

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(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 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 west syndrome. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000023.11 NT_167197.2 NC_018934.2

Regulatory elements:

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 plasmid: CDKL5 promoter sequence

Search Chromatin IP Primers for CDKL5

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, and/or Cloud-Clone Corp.)
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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

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:

Autophosphorylated¹

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

Selected DME Specific Peptides for CDKL5 (O76039) (see all 6)

WSVGCIL

SEIDQLF

KLYLVFE

PYGKSVD

See CDKL5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_001032420.1 NP_003150.1

ENSEMBL proteins:

ENSP00000369332 ENSP00000369325

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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 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_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,
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: 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): Selected molecular function terms (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004672	protein kinase activity	IDA	16935860
GO:0004674	protein serine/threonine kinase activity	TAS	9721213
GO:0004693	cyclin-dependent protein serine/threonine kinase activity	IEA	--
GO:0004713	protein tyrosine kinase activity	--	--
GO:0005524	ATP binding	IDA	16935860

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 Cdkl5^tm1.1Joez for CDKL5

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDKL5

(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

CDKL5_HUMAN, O76039: Nucleus

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
nucleus	5
cytosol	2

About this image

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005730	NOT nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0032587	colocalizes with ruffle membrane	ISS	--
GO:0032839	dendrite cytoplasm	ISS	--

CDKL5 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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SuperPaths for CDKL5 About

See pathways by source

SuperPath

Contained pathways About

Sweet Taste Signaling

Sperm Motility

0.37

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

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for CDKL5
Interactions:

Search GeneGlobe Interaction Network for CDKL5

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

Selected Interacting proteins for CDKL5 (O76039^{2, 3} ENSP00000369325⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 8)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ABL1	P00519²^,³, ENSP00000361423⁴	MINT-8110107 I2D: score=3 STRING: ENSP00000361423
FYN	P06241²^,³, ENSP00000357656⁴	MINT-8111019 I2D: score=3 STRING: ENSP00000357656
MECP2	P51608³, ENSP00000395535⁴	I2D: score=1 STRING: ENSP00000395535
GRB2	P62993³, ENSP00000339007⁴	I2D: score=2 STRING: ENSP00000339007
MGMT	ENSP00000302111⁴	STRING: ENSP00000302111

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001764	neuron migration	ISS	--
GO:0006468	protein phosphorylation	TAS	9721213
GO:0032855	positive regulation of Rac GTPase activity	ISS	--
GO:0045773	positive regulation of axon extension	ISS	--
GO:0046777	protein autophosphorylation	IDA	16935860

CDKL5 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 Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for CDKL5

2 HMDB Compounds for CDKL5 About this table

Compound	Synonyms	CAS #	PubMed Ids
ADP	adenosindiphosphorsaeure (see all 8)	58-64-0	--
Adenosine triphosphate	5'-(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,
Conferences by KenesGroup, 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 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

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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:

NM_003159 AA398911 AY217744 BC010966 Y15057 AI569744 CD675032 AK056879

W07775 AI582736 BI559845 CB153498 BX096833 BE831003 BC036091 X89059

AL704691 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™, 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) CDKL5 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GAAGAACCAA

About this image

CDKL5 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 4) fully expand


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

CDKL5 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

CDKL5 Protein Expression

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
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 and fungi.

Orthologs for CDKL5 gene from Selected species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Cdkl5^{1 , 5}	cyclin-dependent kinase-like 5^{1, 5}	89.38(n)¹ 95.8(a)¹		X (73.95 cM)⁵ 382253¹ NM_001024624.2¹ NP_001019795.1¹ 160784308⁵
chicken (Gallus gallus)	Aves	CDKL5¹	cyclin-dependent kinase-like 5	79.68(n) 83.54(a)		428001 XM_425571.3 XP_425571.2
lizard (Anolis carolinensis)	Reptilia	CDKL5⁶	cyclin-dependent kinase-like 5	75(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	65.86(n) 68.02(a)		559341 NM_001130771.1 NP_001124243.1
fruit fly (Drosophila melanogaster)	Insecta	CG6800⁶	--	32(a)	1 → many	3R(17601860-17602935)
worm (Caenorhabditis elegans)	Secernentea	dyf-18⁶	Protein DYF-18 (dyf-18) mRNA, complete cds	31(a)	1 → many	IV(11798665-11801088) WBGene00010349
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	KIN28⁶	Serine/threonine protein kinase, subunit of the tr...	31(a)	1 → many	IV(267698-268699) YDL108W

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)
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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

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), 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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SNP ID	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
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

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(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.)
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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. However, EIEE2 and Rett syndrome are considered two distinct entities. Note=The disease is caused

by mutations affecting the gene represented in this entry

Selected diseases for CDKL5 (see all 27): About MalaCards

epileptic encephalopathy, early infantile, 2 west syndrome angelman syndrome-like cdkl5-related angelman-like syndrome

epileptic encephalopathy, early infantile, 1 atypical rett syndrome gait apraxia rett syndrome

myoclonic epilepsy of infancy aicardi syndrome seizure disorder apraxia

angelman syndrome precocious puberty sleep disorder was-related disorders

brain disease microcephaly intellectual disability mental retardation

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)
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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

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)
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)
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)
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)
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)
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)
Key clinical features to identify girls with CDKL5 mutations. (PubMed id 18790821)^{1, 2, 9} Bahi-Buisson N.... Bienvenu T. (Brain 2008)
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)
[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)
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)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
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: 6792	HGNC: 11411	AceView: CDKL5	Ensembl:ENSG00000008086	euGenes: HUgn6792
ECgene: CDKL5	H-InvDB: CDKL5

(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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Name	Description
PharmGKB entry for CDKL5	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CDKL5[genesymbol]

Intellectual Property for CDKL5 gene
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Patent Information for CDKL5 gene:
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GeneCards and IP:
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Cyclin-Dependent Kinase-Like 5

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Cyclin-Dependent Kinase-Like 5

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