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CDKL5

GENERAL INFORMATION

Gene name

 CDKL5

Gene description

 Cyclin-dependent kinase-like 5

Protein class

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

Predicted localization

 Intracellular

Number of transcripts

 7
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enhanced (cerebral cortex)
GTEx:Tissue enhanced (testis)
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Ubiquitous nuclear expression at variable levels.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA002847 , CAB011577
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (cerebral cortex)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (testis)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 CDKL5 (HGNC Symbol)

Synonyms

 CFAP247, EIEE2, STK9

Description

 Cyclin-dependent kinase-like 5 (HGNC Symbol)

Entrez gene 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]

Chromosome

 X

Cytoband

 p22.13

Chromosome location (bp)

 18425583 - 18653629

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000008086 (version 83.38)

Entrez gene

 6792

UniProt

 O76039 (UniProt - Evidence at protein level)

neXtProt

 NX_O76039

Antibodypedia

 CDKL5 antibodies

PROTEIN BROWSER
CDKL5-001
CDKL5-002
CDKL5-004
CDKL5-005
CDKL5-007
CDKL5-008
CDKL5-009

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
CDKL5-001
ENSP00000369325
ENST00000379989
O76039 [Direct mapping]
Cyclin-dependent kinase-like 5
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Enzymes
   ENZYME proteins
   Transferases
   Kinases
   CMGC Ser/Thr protein kinases
   MEMSAT-SVM predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Show all
GO:0001764 [neuron migration]
GO:0004672 [protein kinase activity]
GO:0004674 [protein serine/threonine kinase activity]
GO:0004693 [cyclin-dependent protein serine/threonine kinase activity]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006468 [protein phosphorylation]
GO:0016301 [kinase activity]
GO:0032587 [ruffle membrane]
GO:0032839 [dendrite cytoplasm]
GO:0043547 [positive regulation of GTPase activity]
GO:0044294 [dendritic growth cone]
GO:0045773 [positive regulation of axon extension]
GO:0046777 [protein autophosphorylation]
GO:0048365 [Rac GTPase binding]
GO:0050773 [regulation of dendrite development]
GO:0050775 [positive regulation of dendrite morphogenesis]
GO:0051726 [regulation of cell cycle]
Show all
 1030 aa
115.5 kDa 		No 0
CDKL5-002
ENSP00000369332
ENST00000379996
O76039 [Direct mapping]
Cyclin-dependent kinase-like 5
Show all
Enzymes
   ENZYME proteins
   Transferases
   Kinases
   CMGC Ser/Thr protein kinases
   MEMSAT-SVM predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Show all
GO:0001764 [neuron migration]
GO:0004672 [protein kinase activity]
GO:0004674 [protein serine/threonine kinase activity]
GO:0004693 [cyclin-dependent protein serine/threonine kinase activity]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006468 [protein phosphorylation]
GO:0016301 [kinase activity]
GO:0032587 [ruffle membrane]
GO:0032839 [dendrite cytoplasm]
GO:0043547 [positive regulation of GTPase activity]
GO:0044294 [dendritic growth cone]
GO:0045773 [positive regulation of axon extension]
GO:0046777 [protein autophosphorylation]
GO:0048365 [Rac GTPase binding]
GO:0050773 [regulation of dendrite development]
GO:0050775 [positive regulation of dendrite morphogenesis]
GO:0051726 [regulation of cell cycle]
Show all
 1030 aa
115.5 kDa 		No 0
CDKL5-004
ENSP00000485184
ENST00000463994
A0A096LNR9 [Direct mapping]
Cyclin-dependent kinase-like 5
Show all
   MEMSAT-SVM predicted membrane proteins
Predicted intracellular proteins
Show all
GO:0004672 [protein kinase activity]
GO:0005524 [ATP binding]
GO:0006468 [protein phosphorylation]
Show all
 784 aa
88.2 kDa 		No 0
CDKL5-005
ENSP00000485244
ENST00000623535
O76039 [Direct mapping]
Cyclin-dependent kinase-like 5
Show all
Enzymes
   ENZYME proteins
   Transferases
   Kinases
   CMGC Ser/Thr protein kinases
   MEMSAT-SVM predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Show all
GO:0001764 [neuron migration]
GO:0004672 [protein kinase activity]
GO:0004674 [protein serine/threonine kinase activity]
GO:0004693 [cyclin-dependent protein serine/threonine kinase activity]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006468 [protein phosphorylation]
GO:0016301 [kinase activity]
GO:0032587 [ruffle membrane]
GO:0032839 [dendrite cytoplasm]
GO:0043547 [positive regulation of GTPase activity]
GO:0044294 [dendritic growth cone]
GO:0045773 [positive regulation of axon extension]
GO:0046777 [protein autophosphorylation]
GO:0048365 [Rac GTPase binding]
GO:0050773 [regulation of dendrite development]
GO:0050775 [positive regulation of dendrite morphogenesis]
GO:0051726 [regulation of cell cycle]
Show all
 960 aa
107.5 kDa 		No 0
CDKL5-007
ENSP00000485625
ENST00000624953
A0A096LPI4 [Direct mapping]
Cyclin-dependent kinase-like 5
Show all
Predicted intracellular proteins
Show all
 18 aa
2 kDa 		No 0
CDKL5-008
ENSP00000485581
ENST00000623364
A0A096LPG3 [Direct mapping]
Cyclin-dependent kinase-like 5
Show all
Predicted intracellular proteins
Show all
GO:0004672 [protein kinase activity]
GO:0005524 [ATP binding]
GO:0006468 [protein phosphorylation]
Show all
 61 aa
6.9 kDa 		No 0
CDKL5-009
ENSP00000485359
ENST00000624700
A0A096LP32 [Direct mapping]
Cyclin-dependent kinase-like 5
Show all
Predicted intracellular proteins
Show all
GO:0004672 [protein kinase activity]
GO:0005524 [ATP binding]
GO:0006468 [protein phosphorylation]
Show all
 68 aa
7.8 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.