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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| cyclin dependent kinase like 5 | MIM:300203 | Ensembl:ENSG00000008086 | HGNC:HGNC:11411 | PA36218 | Xp22.13 |
GO terms in CDKL5
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IDA | GO:0004672 | protein kinase activity |
| MF | TAS | GO:0004674 | protein serine/threonine kinase activity |
| MF | IBA | GO:0004693 | cyclin-dependent protein serine/threonine kinase activity |
| MF | IDA | GO:0005524 | ATP binding |
| MF | IDA | GO:0016301 | kinase activity |
| MF | ISS | GO:0048365 | Rac GTPase binding |
| CC | IBA | GO:0005634 | nucleus |
| CC | IDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005813 | centrosome |
| CC | IDA | GO:0005829 | cytosol |
| CC | ISS | GO:0032587 | ruffle membrane |
| CC | IBA | GO:0032839 | dendrite cytoplasm |
| CC | ISS | GO:0032839 | dendrite cytoplasm |
| CC | IDA | GO:0036064 | ciliary basal body |
| CC | ISS | GO:0044294 | dendritic growth cone |
| CC | IEA | GO:0045202 | synapse |
| CC | IEA | GO:0048471 | perinuclear region of cytoplasm |
| CC | IDA | GO:0097542 | ciliary tip |
| BP | ISS | GO:0001764 | neuron migration |
| BP | IBA | GO:0006468 | protein phosphorylation |
| BP | TAS | GO:0006468 | protein phosphorylation |
| BP | ISS | GO:0043547 | positive regulation of GTPase activity |
| BP | IBA | GO:0045773 | positive regulation of axon extension |
| BP | ISS | GO:0045773 | positive regulation of axon extension |
| BP | IDA | GO:0046777 | protein autophosphorylation |
| BP | IBA | GO:0050773 | regulation of dendrite development |
| BP | ISS | GO:0050773 | regulation of dendrite development |
| BP | ISS | GO:0050775 | positive regulation of dendrite morphogenesis |
| BP | IEA | GO:0060999 | positive regulation of dendritic spine development |
| BP | IMP | GO:1902017 | regulation of cilium assembly |
Gene expression in normal tissue: CDKL5
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CDKL5
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2380 | Brain-Derived Neurotrophic Factor (BDNF) signaling pathway |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD351 | GW843682X | 3 |
| iGMDRD314 | Tanespimycin | 2 |
| iGMDRD446 | LY 2183240 | 1 |
| iGMDRD634 | SCHEMBL2608041 | 2 |
| iGMDRD123 | Isoevodiamine | 1 |
| iGMDRD280 | CYTOCHALASIN B | 4 |
| iGMDRD1008 | SR-II-138A | 2 |
| iGMDRD512 | nutlin 3 | 2 |
| iGMDRD151 | CHM-1 | 1 |
| iGMDRD405 | PIK-75 | 2 |
| iGMDRD494 | Neopeltolide | 3 |
| iGMDRD345 | Compound 10b [PMID: 11504634] | 3 |
| iGMDRD546 | BMS-754807 | 2 |
| iGMDRD150 | RITA | 5 |
| iGMDRD366 | PI-103 | 1 |
| iGMDRD888 | Compound 44 | 3 |
| iGMDRD188 | Piperlongumine | 7 |
| iGMDRD414 | MST-312 | 2 |
| iGMDRD322 | FK 866 | 3 |
| iGMDRD64 | Parbendazole | 3 |
| iGMDRD640 | CAY10618 | 3 |
| iGMDRD255 | SB225002 | 3 |
| iGMDRD202 | Curcumin | 3 |
| iGMDRD103 | SN-38 | 2 |
| iGMDRD513 | BML-259 | 2 |
| iGMDRD318 | PAC-1 | 2 |
| iGMDRD782 | DC-45-A2 | 2 |
| iGMDRD105 | Triptolide | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CDKL5
CLASSFICATION
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