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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:300203 Ensembl IDEnsembl:ENSG00000008086 HGNC IDHGNC:HGNC:11411 PHARMGKB IDPA36218 Map LocationXp22.13 | |||||
GO terms in CDKL5
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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 |
Gene expression in normal tissue: CDKL5
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CDKL5
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2380 | Brain-Derived Neurotrophic Factor (BDNF) signaling pathway |
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Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CDKL5
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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