CDKL5


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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
cyclin dependent kinase like 5MIM:300203Ensembl:ENSG00000008086HGNC:HGNC:11411PA36218Xp22.13

GO terms in CDKL5


Term TypeEvidence TypeGO Term IDGO Des.
MFIDAGO:0004672protein kinase activity
MFTASGO:0004674protein serine/threonine kinase activity
MFIBAGO:0004693cyclin-dependent protein serine/threonine kinase activity
MFIDAGO:0005524ATP binding
MFIDAGO:0016301kinase activity
MFISSGO:0048365Rac GTPase binding
CCIBAGO:0005634nucleus
CCIDAGO:0005634nucleus
CCIDAGO:0005654nucleoplasm
CCIDAGO:0005813centrosome
CCIDAGO:0005829cytosol
CCISSGO:0032587ruffle membrane
CCIBAGO:0032839dendrite cytoplasm
CCISSGO:0032839dendrite cytoplasm
CCIDAGO:0036064ciliary basal body
CCISSGO:0044294dendritic growth cone
CCIEAGO:0045202synapse
CCIEAGO:0048471perinuclear region of cytoplasm
CCIDAGO:0097542ciliary tip
BPISSGO:0001764neuron migration
BPIBAGO:0006468protein phosphorylation
BPTASGO:0006468protein phosphorylation
BPISSGO:0043547positive regulation of GTPase activity
BPIBAGO:0045773positive regulation of axon extension
BPISSGO:0045773positive regulation of axon extension
BPIDAGO:0046777protein autophosphorylation
BPIBAGO:0050773regulation of dendrite development
BPISSGO:0050773regulation of dendrite development
BPISSGO:0050775positive regulation of dendrite morphogenesis
BPIEAGO:0060999positive regulation of dendritic spine development
BPIMPGO:1902017regulation of cilium assembly

Gene expression in normal tissue: CDKL5

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in CDKL5


DatabasePathway IDPathway Des.
wikipathwaysWP2380Brain-Derived Neurotrophic Factor (BDNF) signaling pathway

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD351GW843682X3
iGMDRD314Tanespimycin2
iGMDRD446LY 21832401
iGMDRD634SCHEMBL26080412
iGMDRD123Isoevodiamine1
iGMDRD280CYTOCHALASIN B4
iGMDRD1008SR-II-138A2
iGMDRD512nutlin 32
iGMDRD151CHM-11
iGMDRD405PIK-752
iGMDRD494Neopeltolide3
iGMDRD345Compound 10b [PMID: 11504634]3
iGMDRD546BMS-7548072
iGMDRD150RITA5
iGMDRD366PI-1031
iGMDRD888Compound 443
iGMDRD188Piperlongumine7
iGMDRD414MST-3122
iGMDRD322FK 8663
iGMDRD64Parbendazole3
iGMDRD640CAY106183
iGMDRD255SB2250023
iGMDRD202Curcumin3
iGMDRD103SN-382
iGMDRD513BML-2592
iGMDRD318PAC-12
iGMDRD782DC-45-A22
iGMDRD105Triptolide2

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in CDKL5

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