Gene table of CDKL5 : cyclin dependent kinase like 5

Gene-disease associations table

Disease IDDisease nameSource of annotation with CDKL5OMIM linkNumber of associated genesgenes
105830ANGELMAN SYNDROMEClinVar link to OMIM 3UBE3A, CDKL5, MECP2
PS308350EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILEClinVar, OMIM, HUMSAVAR link to OMIM 37KCNT1, EEF1A2, SZT2, ALG13, ST3GAL3, WWOX, ITPA, SIK1, SCN1A, ARHGEF9, GNAO1, TBC1D24, DNM1, SLC35A2, GRIN2B, SLC13A5, SLC25A22, HCN1, KCNB1, STXBP1, SCN9A, PNKP, KCNQ2, SPTAN1, KCNA2, SCN2A, PLCB1, AARS, PCDH19, CDKL5, GABRA1, SLC12A5, DOCK7, ARX, SCN8A, NECAP1, PIGA

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Annotation of the gene CDKL5

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
Associated REACTOME pathways
Associated GO terms for Molecular function
GO termGO IDGO IC
purine ribonucleoside triphosphate bindingGO:00356392.22
Rho GTPase bindingGO:00170485.36
small GTPase bindingGO:00312674.13
GTPase bindingGO:00510204.05
bindingGO:00054880.18
cyclin-dependent protein serine/threonine kinase activityGO:00046936.21
heterocyclic compound bindingGO:19013631.06
nucleoside phosphate bindingGO:19012651.96
nucleoside bindingGO:00018822.21
protein serine/threonine kinase activityGO:00046743.64
ribonucleoside bindingGO:00325492.22
nucleotide bindingGO:00001661.96
cyclin-dependent protein kinase activityGO:00974726.21
transferase activityGO:00167401.95
purine nucleoside bindingGO:00018832.22
protein kinase activityGO:00046723.27
purine nucleotide bindingGO:00170762.19
ATP bindingGO:00055242.43
kinase activityGO:00163012.93
Ras GTPase bindingGO:00170164.2
small molecule bindingGO:00360941.89
catalytic activityGO:00038241.05
enzyme bindingGO:00198992.27
adenyl nucleotide bindingGO:00305542.4
phosphotransferase activity, alcohol group as acceptorGO:00167733.08
organic cyclic compound bindingGO:00971591.05
carbohydrate derivative bindingGO:00973672.03
Rac GTPase bindingGO:00483656.05
adenyl ribonucleotide bindingGO:00325592.41
protein bindingGO:00055150.46
transferase activity, transferring phosphorus-containing groupsGO:00167722.77
purine ribonucleotide bindingGO:00325552.2
purine ribonucleoside bindingGO:00325502.22
ribonucleotide bindingGO:00325532.19