CDKL5 Gene (Protein Coding)

Cyclin Dependent Kinase Like 5

GCID:: GC0XP018425

GIFtS:: 43

Genes Participants

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] See more...

Aliases for CDKL5 Gene

Cyclin Dependent Kinase Like 5 ² ³ ⁵
Cyclin-Dependent Kinase-Like 5 ² ³ ⁴
Serine/Threonine-Protein Kinase 9 ³ ⁴
Serine/Threonine Kinase 9 ² ³
EC 2.7.11.22 ⁴ ⁵¹
CFAP247 ² ³

EIEE2 ² ³
STK9 ³ ⁴
Cyclin Dependent Kinase 5 Transcript ³
EC 2.7.11 ⁵¹
CDKL5 ⁵
ISSX ³

External Ids for CDKL5 Gene

HGNC: 11411
Entrez Gene: 6792
Ensembl: ENSG00000008086
OMIM: 300203
UniProtKB: O76039

Previous HGNC Symbols for CDKL5 Gene

STK9

Previous GeneCards Identifiers for CDKL5 Gene

GC0XP017109
GC0XP017645
GC0XP017805
GC0XP018203
GC0XP018353
GC0XP018443
GC0XP016199

Search aliases for CDKL5 gene in PubMed and other databases

Summaries for CDKL5 Gene

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 Rett Syndrome. Among its related pathways are Sweet Taste Signaling and Brain-Derived Neurotrophic Factor (BDNF) signaling pathway. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is CDKL2.

UniProtKB/Swiss-Prot Summary for CDKL5 Gene

Mediates phosphorylation of MECP2 (PubMed:15917271, PubMed:16935860). May regulate ciliogenesis (PubMed:29420175).
- CDKL5_HUMAN,O76039

Gene Wiki entry for CDKL5 Gene

Additional gene information for CDKL5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CDKL5 Gene

Genomics for CDKL5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data

Request up-to-date GeneHancer data

Promoters and enhancers for CDKL5 Gene

GeneHancer (GH) Identifier	GH Type	GH Score	GH Sources	Gene Association Score	Total Score	TSS distance (kb)	Number of Genes Away	Size (kb)	Transcription Factor Binding Sites
GH0XJ018424	Promoter/Enhancer	1.9	EPDnew Ensembl ENCODE CraniofacialAtlas	600.7	+0.7	718	4.2	RNF2 SP1 PRDM10 ZNF629 RFX1 ZNF692 DDX20 ZNF143 ZSCAN4 RBFOX2	CDKL5 RF00017-8191 RS1
GH0XJ018501	Promoter	0.3	EPDnew	600.2	+76.0	75968	0.1		CDKL5 piR-57801-029 GJA6P RS1
GH0XJ018674	Promoter/Enhancer	1.9	FANTOM5 Ensembl ENCODE CraniofacialAtlas	1.7	+249.6	249618	2.4	PRDM10 KDM1A BACH1 POLR3G RBFOX2 RXRB PATZ1 IRF2 REST BRD4	PPEF1 TRV-TAC1-2 lnc-PPEF1-2 CDKL5 PHKA2
GH0XJ018421	Enhancer	0.8	Ensembl ENCODE	0.7	-3.1	-3123	1.1	CREB1 ATF7 EED SP1 JUND BRCA1 JUN FOS ATF2 FOSL2	CDKL5 FJ601678-184 SCML2
GH0XJ018399	Enhancer	0.8	ENCODE	0.3	-25.7	-25724	1.3	GATAD2A RXRB SP1 CEBPA FOXK2 SOX13 TCF7 CEBPB ZKSCAN8 MAFF	ENSG00000207025 piR-50437-680 CDKL5 SCML2

- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CDKL5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CDKL5

Top Transcription factor binding sites by QIAGEN in the CDKL5 gene promoter:

Cart-1
FOXD3
FOXL1
HFH-1
Hlf
Sox5

Genomic Locations for CDKL5 Gene

chrX:18,425,583-18,653,629: (GRCh38/hg38)

Size:: 228,047 bases
Orientation:: Plus strand

chrX:18,443,703-18,671,749: (GRCh37/hg19)

Size:: 228,047 bases
Orientation:: Plus strand

Genomic View for CDKL5 Gene

Genes around CDKL5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:

Xp22.13 by HGNC
Xp22.13 by Entrez Gene
Xp22.13 by Ensembl

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

Genomic Location for CDKL5 Gene — Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CDKL5 Gene

NC_000023.11

Proteins for CDKL5 Gene

Protein details for CDKL5 Gene (UniProtKB/Swiss-Prot)
Protein Symbol:

O76039-CDKL5_HUMAN

Recommended name:

Cyclin-dependent kinase-like 5

Protein Accession:

O76039

Secondary Accessions:
- G9B9X4
- Q14198
- Q5H985
- Q8IYC7
- Q9UJL6
Protein attributes for CDKL5 Gene
Size:

1030 amino acids

Molecular mass:

115538 Da
Quaternary structure:
Interacts with MECP2.
SequenceCaution:
Sequence=CAA61445.1; Type=Frameshift; Evidence={ECO:0000305};
Miscellaneous:
[Isoform 2]: Predominant transcript in brain.
Three dimensional structures from OCA and Proteopedia for CDKL5 Gene
- 4BGQ (3D)
Alternative splice isoforms for CDKL5 Gene
UniProtKB/Swiss-Prot:
O76039-1

O76039-2

neXtProt entry for CDKL5 Gene

Protein Expression for CDKL5 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for CDKL5 Gene

O76039:

YVATRWYR
SEIDQLF
PYGKSVD
WSVGCIL
HRDIKPEN
KLYLVFE

Post-translational modifications for CDKL5 Gene

Autophosphorylated.
- O76039-CDKL5_HUMAN
Modification sites at PhosphoSitePlus
- O76039
Modification sites at neXtProt
- NX_O76039

Other Protein References for CDKL5 Gene

ENSEMBL proteins:

REFSEQ proteins:

Antibody Products

G Biosciences Immunotag™ CDKL5 Antibody

OriGene Antibodies for CDKL5
- AP13936PU-N
- TA342784
Custom Antibody Services

Novus Biologicals Antibodies for CDKL5

Abcam antibodies for CDKL5
- CDKL5

Invitrogen Antibodies for CDKL5 (AFLGC-CDKL5)

Biorbyt antibodies for CDKL5
- orb156327

Boster Bio Antibodies for CDKL5
- A01814

Santa Cruz Biotechnology (SCBT) Antibodies for CDKL5
- CDKL5 (D-12)

Browse Sino Biological Antibodies

Protein Products

OriGene Purified Proteins for CDKL5
- NM_001037343
- NM_001037343
Search Origene for MassSpec and Protein Over-expression Lysates for CDKL5
Origene Custom Protein Services for CDKL5

Novus Biologicals proteins and lysates for CDKL5

Browse ProSpec Recombinant Proteins

antibodies-online: Show 6 available CDKL5 Proteins ranked by validation data
Compare Top CDKL5 Proteins

Search for CDKL5 Proteins at ProSci

Abcam proteins for CDKL5
- CDKL5

Assay Products

antibodies-online: Search results for available CDKL5 related products ranked by validation data

Browse Boster Bio ELISA Kits

Browse Sino Biological Assays

Domains & Families for CDKL5 Gene

Gene Families for CDKL5 Gene

HGNC:

IUPHAR :

Cyclin-dependent kinase-like (CDKL) family

Human Protein Atlas (HPA):

Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Protein Domains for CDKL5 Gene

InterPro:

ProtoNet:

O76039

Suggested Antigen Peptide Sequences for CDKL5 Gene

GenScript: Design optimal peptide antigens:

Serine/threonine-protein kinase 9 (CDKL5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O76039

UniProtKB/Swiss-Prot:

CDKL5_HUMAN :

Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.

Family:

Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.

Function for CDKL5 Gene

Molecular function for CDKL5 Gene

UniProtKB/Swiss-Prot Function:

Mediates phosphorylation of MECP2 (PubMed:15917271, PubMed:16935860). May regulate ciliogenesis (PubMed:29420175).

CDKL5_HUMAN,O76039

UniProtKB/Swiss-Prot CatalyticActivity:

Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.22;.

CDKL5_HUMAN,O76039

UniProtKB/Swiss-Prot CatalyticActivity:

Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.22;.

CDKL5_HUMAN,O76039

Enzyme Numbers (IUBMB) for CDKL5 Gene

EC 2.7.11 ⁵¹
EC 2.7.11.22 ⁵¹ ⁴

Phenotypes From GWAS Catalog for CDKL5 Gene

Gene Ontology (GO) - Molecular Function for CDKL5 Gene

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0004672	protein kinase activity	IEA,IDA	16935860
GO:0004674	protein serine/threonine kinase activity	TAS	9721213
GO:0004693	cyclin-dependent protein serine/threonine kinase activity	IEA	--
GO:0005524	ATP binding	IEA,IDA	16935860

Phenotypes for CDKL5 Gene

MGI mutant phenotypes for CDKL5:

inferred from 5 alleles

GenomeRNAi human phenotypes for CDKL5:

Human Phenotype Ontology for CDKL5 Gene

HPO Id	HPO Name	Alternative Ids	Definition	Synonyms

Animal Models for CDKL5 Gene

MGI Knock Outs for CDKL5:

Cdkl5 ^{Cdkl5<tm1.1Joez>}
Cdkl5 ^{Cdkl5<tm1.2Cogr>}
Cdkl5 ^{Cdkl5<tm1.3Cogr>}

Animal Model Products

Taconic Biosciences Mouse Models for CDKL5
- Cdkl5

CRISPR Products

Applied Biological Materials (abm): CRISPR Clones for CDKL5 - Select products 50% OFF >
* CDKL5 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
* Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All

OriGene CRISPR knockouts for CDKL5
- GA104677
- GA217242
- KN418433
- KN503057

Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CDKL5

Santa Cruz Biotechnology (SCBT) CRISPR for CDKL5

miRNA for CDKL5 Gene

miRTarBase miRNAs that target CDKL5

hsa-miR-222-3p (MIRT046657)

miRNA Products

Search GeneCopoeia for miRNA 3'UTR Target clone products for CDKL5

Browse OriGene miRNA Products For CDKL5

Inhibitory RNA Products

Origene shrna, sirna, and RNAi products in human, mouse, rat for CDKL5
Browse OriGene Inhibitory RNA Products For CDKL5

Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDKL5

Search Santa Cruz Biotechnology (SCBT) for CDKL5 siRNA/shRNA

Clone Products

Applied Biological Materials (abm): Clones for CDKL5 - Select products 50% OFF >
* CDKL5 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
* Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All

OriGene clones in human,mouse for CDKL5
- SC200453
- SC200454
- MC222767
- SC302896
- SC310000
- SC323424
OriGene ORF clones in human,mouse for CDKL5
- MG215492
- MR215492
- MR215492L3
- MR215492L4
- RC218433
- RC218433L3
- RC218433L4
- RC220764
- RC220764L1
- RC220764L2
- RC220764L3
- RC220764L4
- RG218433
- RG220764
- MR215492L3V
- MR215492L4V
- RC218433L3V
- RC218433L4V
- RC220764L1V
- RC220764L2V
- RC220764L3V
- RC220764L4V
Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling

Sino Biological Human cDNA Clone for CDKL5

Search Addgene for plasmids for CDKL5

Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CDKL5

Cell Line Products

Browse ESI BIO Cell Lines and PureStem Progenitors for CDKL5

Browse GeneCopoeia Cell Lines

VectorBuilder Stable cell line generation for CDKL5

Horizon Cell Lines for CDKL5

No data available for Transcription Factor Targets and HOMER Transcription for CDKL5 Gene

Localization for CDKL5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDKL5 Gene

Nucleus. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.

O76039-CDKL5_HUMAN

Subcellular locations from

COMPARTMENTS

Compartment	Confidence
cytoskeleton	5
nucleus	5
plasma membrane	3
cytosol	3
extracellular	1
mitochondrion	1
endoplasmic reticulum	1
lysosome	1

Subcellular locations from the

Human Protein Atlas (HPA)

Nucleoplasm (3)

See all subcellular structures

Gene Ontology (GO) - Cellular Components for CDKL5 Gene

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	16935860
GO:0005737	cytoplasm	IEA	--
GO:0005813	centrosome	IDA	29420175
GO:0005815	microtubule organizing center	IEA	--
GO:0005856	cytoskeleton	IEA	--

Pathways & Interactions for CDKL5 Gene

SuperPathways for CDKL5 Gene

	SuperPathway	Contained pathways
1	Sweet Taste Signaling	Sperm Motility .37
2	Brain-Derived Neurotrophic Factor (BDNF) signaling pathway	Brain-Derived Neurotrophic Factor (BDNF) signaling pathway -

Pathways by source for CDKL5 Gene

1 BioSystems pathway for CDKL5 Gene

Brain-Derived Neurotrophic Factor (BDNF) signaling pathway

1 Qiagen pathway for CDKL5 Gene

Sperm Motility

1 GeneTex pathway for CDKL5 Gene

Cell Cycle Pathway

Interacting Proteins for CDKL5 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 14)

Selected Interacting proteins: O76039-CDKL5_HUMAN ENSP00000369325 for CDKL5 Gene via UniProtKB STRING IID

Symbol	External ID(s)	Details
DHX16	ENSP00000365625 ²¹ O60231 ¹²⁶	STRING: ENSP00000365625 IID: # exp=2
DHX38	ENSP00000268482 ²¹ Q92620 ¹²⁶	STRING: ENSP00000268482 IID: # exp=2
GPALPP1	ENSP00000368447 ²¹ Q8IXQ4 ¹²⁶	STRING: ENSP00000368447 IID: # exp=2
HDGFL2	ENSP00000483345 ²¹ Q7Z4V5 ¹²⁶	STRING: ENSP00000483345 IID: # exp=1
HDGFL3	ENSP00000299633 ²¹ Q9Y3E1 ¹²⁶	STRING: ENSP00000299633 IID: # exp=1

GPS-Prot Interaction Network for CDKL5

SIGNOR curated interactions for CDKL5 Gene

Activates:

AMPH
CDKL5

Is activated by:

MEF2C
CDKL5

Other effect:

LRRC4C

Gene Ontology (GO) - Biological Process for CDKL5 Gene

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001764	neuron migration	IEA,ISS	--
GO:0006468	protein phosphorylation	IEA,IBA	21873635
GO:0016310	phosphorylation	IEA	--
GO:0043547	positive regulation of GTPase activity	IEA,ISS	--
GO:0045773	positive regulation of axon extension	IEA,ISS	--

Drugs & Compounds for CDKL5 Gene

(2) Drugs for CDKL5 Gene - From: ClinicalTrials and HMDB

Name	Status	Disease Links	Group	Role	Mechanism of Action	Clinical Trials
ATP	Investigational	MalaCards Medline Plus	Nutra	Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation		0
Anticonvulsants		MalaCards Medline Plus	Pharma			3236

(1) Additional Compounds for CDKL5 Gene - From: HMDB

Name	Synonyms	Role	CAS Number	PubChem IDs	PubMed IDs
ADP	5'-Adenylphosphoric acid Adenosine 5'-diphosphate ADENOSINE-5'-diphosphATE H3ADP 5'-Adenylphosphate	Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist	MalaCards Medline Plus	58-64-0	6022

Drug Products

Browse Tocris compounds for CDKL5

Browse compounds at ApexBio

Transcripts for CDKL5 Gene

mRNA/cDNA for CDKL5 Gene

3 REFSEQ mRNAs :

10 NCBI additional mRNA sequence :

13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

ENST00000379996 3449 nts (view in UCSC)
ENST00000623535 14572 nts (view in UCSC)
ENST00000674046 14695 nts
ENST00000635828 3823 nts (view in UCSC)
ENST00000637881 1782 nts (view in UCSC)

CRISPR Products

Applied Biological Materials (abm): CRISPR Clones for CDKL5 - Select products 50% OFF >
* CDKL5 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
* Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All

OriGene CRISPR knockouts for CDKL5
- GA104677
- GA217242
- KN418433
- KN503057

Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CDKL5

Santa Cruz Biotechnology (SCBT) CRISPR for CDKL5

miRNA Products

Search GeneCopoeia for miRNA 3'UTR Target clone products for CDKL5

Browse OriGene miRNA Products For CDKL5

Inhibitory RNA Products

Origene shrna, sirna, and RNAi products in human, mouse, rat for CDKL5
Browse OriGene Inhibitory RNA Products For CDKL5

Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDKL5

Search Santa Cruz Biotechnology (SCBT) for CDKL5 siRNA/shRNA

Clone Products

Applied Biological Materials (abm): Clones for CDKL5 - Select products 50% OFF >
* CDKL5 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
* Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All

OriGene clones in human,mouse for CDKL5
- SC200453
- SC200454
- MC222767
- SC302896
- SC310000
- SC323424
OriGene ORF clones in human,mouse for CDKL5
- MG215492
- MR215492
- MR215492L3
- MR215492L4
- RC218433
- RC218433L3
- RC218433L4
- RC220764
- RC220764L1
- RC220764L2
- RC220764L3
- RC220764L4
- RG218433
- RG220764
- MR215492L3V
- MR215492L4V
- RC218433L3V
- RC218433L4V
- RC220764L1V
- RC220764L2V
- RC220764L3V
- RC220764L4V
Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling

Sino Biological Human cDNA Clone for CDKL5

Search Addgene for plasmids for CDKL5

Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CDKL5

Alternative Splicing Database (ASD) splice patterns (SP) for CDKL5 Gene

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

Relevant External Links for CDKL5 Gene

GeneLoc Exon Structure for: CDKL5

Expression for CDKL5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CDKL5 Gene

mRNA expression in normal human tissues for CDKL5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Brain (Nervous System)
- Cerebellum
- Cerebral Cortex
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
Intestine (Gastrointestinal Tract)
- Duodenum
Blood (Hematopoietic System)
- Hematopoietic Bone Marrow

Protein differential expression in normal tissues from HIPED for CDKL5 Gene

This gene is overexpressed in Nasal epithelium (55.5) and Plasma (11.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CDKL5 Gene

Integrated Proteomics: protein expression from ProteomicsDB, MaxQB, and MOPED for CDKL5 Gene

Integrated proteomics: cell line protein expression from ProteomicsDB, MOPED and MaxQB for CDKL5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CDKL5

SOURCE GeneReport for Unigene cluster for CDKL5 Gene:

Hs.659851

mRNA Expression by UniProt/SwissProt for CDKL5 Gene:

O76039-CDKL5_HUMAN

Tissue specificity: Expressed in brain, lung, kidney, prostate, ovary, placenta, pancreas and testis.

Evidence on tissue expression from TISSUES for CDKL5 Gene

Nervous system(3.4)
Lung(2.7)
Skin(2.2)
Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CDKL5 Gene

Germ Layers:

ectoderm
endoderm
mesoderm

Systems:

cardiovascular
digestive
integumentary
nervous
respiratory
skeletal muscle
skeleton

Regions:

Head and neck:

brain
cerebellum
cranial nerve
ear
eye
face
forehead
head
jaw
larynx
lip
mandible
maxilla
mouth
neck
nose
pharynx
salivary gland
skull
tongue
tooth
vocal cord

Thorax:

chest wall
diaphragm
esophagus
heart
heart valve
lung
rib
rib cage

Abdomen:

abdominal wall
intestine
large intestine
stomach

Pelvis:

pelvis
rectum

Limb:

arm
digit
finger
foot
hand
lower limb
toe
upper limb

General:

blood vessel
hair
peripheral nerve
peripheral nervous system
skin
spinal column
spinal cord
vertebrae

Primer Products

OriGene qPCR primer pairs for CDKL5
- HP230470
- MP203140

Gene Expression Assay Products

Applied Biosystems by Thermo Fisher Scientific TaqMan® Assays for CDKL5

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for CDKL5 Gene

Orthologs for CDKL5 Gene

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

Orthologs for CDKL5 Gene

Organism	Taxonomy	Gene	Similarity	Type	Details
Chimpanzee (Pan troglodytes)	Mammalia	CDKL5 ³⁰ ³¹	98.7 (n)	OneToOne	473529 XM_003317382.1 XP_003317430.1 X:18681543-18830370
Dog (Canis familiaris)	Mammalia	CDKL5 ³⁰ ³¹	92.51 (n)	OneToOne	491761 XM_005641164.1 XP_005641221.1 X:14597718-14729050
Cow (Bos Taurus)	Mammalia	CDKL5 ³⁰ ³¹	92.07 (n)	OneToOne	538337 XM_002700379.2 XP_002700425.2 X:132075497-132128273
Mouse (Mus musculus)	Mammalia	Cdkl5 ³⁰ ¹⁷ ³¹	89.38 (n)	OneToOne	382253 NM_001024624.2 NP_001019795.1 160784308 X:160784308-160994702
Rat (Rattus norvegicus)	Mammalia	Cdkl5 ³⁰	89.12 (n)		100362725 XM_006256909.1 XP_006256971.1
Oppossum (Monodelphis domestica)	Mammalia	CDKL5 ³¹	81 (a)	OneToOne	7:20403325-20678866
Platypus (Ornithorhynchus anatinus)	Mammalia	CDKL5 ³¹	81 (a)	OneToOne	Ultra462:1846417-1935559
Chicken (Gallus gallus)	Aves	CDKL5 ³⁰ ³¹	79.68 (n)	OneToOne	428001 XM_425571.3 XP_425571.2 1:119936878-120009401
Lizard (Anolis carolinensis)	Reptilia	CDKL5 ³¹	75 (a)	OneToOne	3:122890920-123000894
Tropical Clawed Frog (Silurana tropicalis)	Amphibia	cdkl5 ³⁰	72.62 (n)		100145195 XM_004911758.1 XP_004911815.1
African clawed frog (Xenopus laevis)	Amphibia	Xl.22826 ³⁰			BJ059534.1
Zebrafish (Danio rerio)	Actinopterygii	cdkl5 ³⁰ ³¹	65.86 (n)	OneToOne	559341 NM_001130771.1 NP_001124243.1 11:31036622-31107078
Fruit Fly (Drosophila melanogaster)	Insecta	CG6800 ³¹	32 (a)	OneToMany	3R:17601860-17602935
Worm (Caenorhabditis elegans)	Secernentea	dyf-18 ³¹	31 (a)	OneToMany	IV:11798665-11801088
Baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	KIN28 ³¹	31 (a)	OneToMany	IV:267698-268699
Sea Squirt (Ciona savignyi)	Ascidiacea	-- ³¹	71 (a)	OneToOne	reftig_17:597258-603448

Species where no ortholog for CDKL5 was found in the sources mined by GeneCards:

A. gosspyii yeast (Eremothecium gossypii)
Actinobacteria (Mycobacterium tuberculosis)
African malaria mosquito (Anopheles gambiae)
Alicante grape (Vitis vinifera)
Alpha proteobacteria (Wolbachia pipientis)
Amoeba (Dictyostelium discoideum)
Archea (Pyrococcus horikoshii)
Barley (Hordeum vulgare)
Beta proteobacteria (Neisseria meningitidis)
Bread mold (Neurospora crassa)
Chromalveolata (Phytophthora infestans)
Common water flea (Daphnia pulex)
Corn (Zea mays)
E. coli (Escherichia coli)
Filamentous fungi (Aspergillus nidulans)
Firmicute Bacteria (Streptococcus pneumoniae)
Fission Yeast (Schizosaccharomyces pombe)
Green Algae (Chlamydomonas reinhardtii)
Honey Bee (Apis mellifera)
K. Lactis Yeast (Kluyveromyces lactis)
Loblloly Pine (Pinus taeda)
Malaria Parasite (Plasmodium falciparum)
Medicago Trunc (Medicago Truncatula)
Moss (Physcomitrella patens)
Orangutan (Pongo pygmaeus)
Pig (Sus scrofa)
Rainbow Trout (Oncorhynchus mykiss)
Rice (Oryza sativa)
Rice Blast Fungus (Magnaporthe grisea)
Schistosome Parasite (Schistosoma mansoni)
Sea Anemone (Nematostella vectensis)
Sea Vase (Ciona intestinalis)
Sea Urchin (Strongylocentrotus purpuratus)
Sorghum (Sorghum bicolor)
Soybean (Glycine max)
Stem Rust Fungus (Puccinia graminis)
Sugarcane (Saccharum officinarum)
Thale Cress (Arabidopsis thaliana)
Tomato (Lycopersicon esculentum)
Toxoplasmosis (Toxoplasma gondii)
Trichoplax (Trichoplax adhaerens)
Wheat (Triticum aestivum)

Evolution for CDKL5 Gene

ENSEMBL:: Gene Tree for CDKL5 (if available)
TreeFam:: Gene Tree for CDKL5 (if available)
Aminode:: Evolutionary constrained regions (ECRs) for CDKL5: view image

Paralogs for CDKL5 Gene

CDKL2 ⁵
CDKL3 ⁵
CDK13 ⁵
CDKL1 ⁵
CDK12 ⁵
CDKL4 ⁵
CDK11B ⁵
CDK11A ⁵
CDK20 ⁵
CDK19 ⁵
CDK1 ⁵
CDK16 ⁵
CDK5 ⁵
CDK9 ⁵
CDK17 ⁵
CDK14 ⁵
CDK8 ⁵
CDK7 ⁵
CDK18 ⁵
CDK6 ⁵
CDK2 ⁵
CDK3 ⁵
CDK10 ⁵
CDK15 ⁵
CDK4 ⁵
PRPF4B ⁵

(17) SIMAP similar genes for CDKL5 Gene using alignment to 1 proteins:

CDKL5_HUMAN

Variants for CDKL5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CDKL5 Gene

SNP ID	Clinical significance and condition	Chr 0X pos	Variation	Type
189588	Pathogenic: Early infantile epileptic encephalopathy 2	18,580,504(+)	CTGCAGTTGCAGGCAT	SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT
642094	Uncertain Significance: Early infantile epileptic encephalopathy 2; Angelman syndrome-like	18,653,485(+)	CAGGTAAACCA/C	FRAMESHIFT_VARIANT,INTRON_VARIANT
642554	Uncertain Significance: Early infantile epileptic encephalopathy 2; Angelman syndrome-like	18,625,159(+)	C/T	MISSENSE_VARIANT
643438	Conflicting Interpretations: Early infantile epileptic encephalopathy 2; Angelman syndrome-like; not provided	18,628,694(+)	CT/C	FRAMESHIFT_VARIANT,INTRON_VARIANT
645940	Uncertain Significance: Early infantile epileptic encephalopathy 2; Angelman syndrome-like	18,608,879(+)	C/T	SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for CDKL5 Gene

Structural Variations from Database of Genomic Variants (DGV) for CDKL5 Gene

Variant ID	Type	Subtype	PubMed ID
esv3359808	CNV	insertion	20981092
esv3573625	CNV	loss	25503493
esv3573626	CNV	loss	25503493
esv3576792	CNV	gain	25503493
nsv476338	CNV	novel sequence insertion	20440878
nsv528654	CNV	gain	19592680
nsv6821	CNV	insertion	18451855

Variation tolerance for CDKL5 Gene

Residual Variation Intolerance Score: 2.51% of all genes are more intolerant (likely to be disease-causing)

Gene Damage Index Score: 2.59; 44.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CDKL5 Gene

Human Gene Mutation Database (HGMD): CDKL5
SNPedia medical, phenotypic, and genealogical associations of SNPs for: CDKL5

SNP Genotyping and Copy Number Assay Products

Applied Biosystems by Thermo Fisher Scientific TaqMan® Assays for CDKL5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDKL5 Gene

Disorders for CDKL5 Gene

(49) MalaCards diseases for CDKL5 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder	Aliases	PubMed IDs
epileptic encephalopathy, early infantile, 2	eiee2	18809835
rett syndrome	rtt	19740913
early infantile epileptic encephalopathy	early infantile epileptic encephalopathy with burst-suppression	18809835
bruxism	bruxism - teeth grinding
focal epilepsy	localisation-related epilepsy

- elite association - COSMIC cancer census association via MalaCards

Search CDKL5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CDKL5_HUMAN

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. {ECO:0000269 PubMed:12736870, ECO:0000269 PubMed:15492925, ECO:0000269 PubMed:15499549, ECO:0000269 PubMed:15689447, ECO:0000269 PubMed:15917271, ECO:0000269 PubMed:16015284, ECO:0000269 PubMed:16611748, ECO:0000269 PubMed:16935860, ECO:0000269 PubMed:17993579, ECO:0000269 PubMed:18790821, ECO:0000269 PubMed:18809835, ECO:0000269 PubMed:19241098, ECO:0000269 PubMed:19253388, ECO:0000269 PubMed:23662938, ECO:0000269 PubMed:23708187, ECO:0000269 PubMed:24564546, ECO:0000269 PubMed:26993267, ECO:0000269 PubMed:27864847}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CDKL5

Genetic Association Database: (GAD)
Human Genome Epidemiology Navigator: (HuGE)
: ATLAS of Genetics and Cytogenetics in Oncology and Haematology
: Open Targets Platform

Search disorders for CDKL5 gene in PubMed and other databases

No data available for Genatlas for CDKL5 Gene

Publications for CDKL5 Gene

Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation. (PMID: 16935860) Bertani I … Kilstrup-Nielsen C (The Journal of biological chemistry 2006) ² ³ ⁴ ²³
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. (PMID: 19780792) Mei D … Guerrini R (Epilepsia 2010) ³ ²³ ⁴¹
Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. (PMID: 19241098) Russo S … Larizza L (Neurogenetics 2009) ³ ⁴ ²³
Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. (PMID: 19793311) Nemos C … Philippe C (Clinical genetics 2009) ³ ²³ ⁴¹
[Methyl-CpG-binding protein 2 gene and CDKL5 gene mutation in patients with Rett syndrome: analysis of 177 Chinese pediatric patients]. (PMID: 19552836) Li MR … Wu XR (Zhonghua yi xue za zhi 2009) ³ ²³ ⁴¹