Gene table of TBCK : TBC1 domain containing kinase

Gene-disease associations table

Disease IDDisease nameSource of annotation with TBCKOMIM linkNumber of associated genesgenes
PS615419HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIESClinVar, OMIM link to OMIM 3UNC80, TBCK, NALCN

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Annotation of the gene TBCK

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
enzyme bindingGO:00198992.27
small GTPase bindingGO:00312674.13
GTPase bindingGO:00510204.05
enzyme activator activityGO:00080473.56
molecular function regulatorGO:00987722.51
heterocyclic compound bindingGO:19013631.06
purine nucleoside bindingGO:00018832.22
nucleoside bindingGO:00018822.21
ribonucleoside bindingGO:00325492.22
nucleotide bindingGO:00001661.96
transferase activityGO:00167401.95
nucleoside phosphate bindingGO:19012651.96
protein kinase activityGO:00046723.27
purine nucleotide bindingGO:00170762.19
ATP bindingGO:00055242.43
enzyme regulator activityGO:00302342.85
kinase activityGO:00163012.93
GTPase activator activityGO:00050964.11
Rab GTPase bindingGO:00171374.96
Ras GTPase bindingGO:00170164.2
small molecule bindingGO:00360941.89
GTPase regulator activityGO:00306954.01
nucleoside-triphosphatase regulator activityGO:00605893.92
adenyl nucleotide bindingGO:00305542.4
carbohydrate derivative bindingGO:00973672.03
organic cyclic compound bindingGO:00971591.05
catalytic activityGO:00038241.05
phosphotransferase activity, alcohol group as acceptorGO:00167733.08
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
bindingGO:00054880.18