Gene table of CASK : calcium/calmodulin dependent serine protein kinase

Gene-disease associations table

Disease ID	Disease name	Source of annotation with CASK	OMIM link	Number of associated genes	genes
300422	FG SYNDROME 4	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	CASK
PS309510	MENTAL RETARDATION, X-LINKED SYNDROMIC	ClinVar, OMIM, HUMSAVAR	link to OMIM	27	AP1S2, PRPS1, IGBP1, RBMX, HUWE1, RAB40AL, HSD17B10, ATP6AP2, PHF8, CLIC2, CASK, TAF1, FGD1, CUL4B, PQBP1, ZDHHC9, NONO, UPF3B, SMS, HDAC8, UBE2A, MECP2, KDM5C, ARX, SLC9A6, GRIA3, PHF6

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

KEGG pathway	KEGG ID	KEGG IC
Tight junction	hsa04530	5.53

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Cell-Cell communication	R-HSA-1500931	5.87
Neuronal System	R-HSA-112316	4.82
Dopamine Neurotransmitter Release Cycle	R-HSA-212676	8.46
Extracellular matrix organization	R-HSA-1474244	4.91
Neurotransmitter Release Cycle	R-HSA-112310	7.34
Syndecan interactions	R-HSA-3000170	8.23
Non-integrin membrane-ECM interactions	R-HSA-3000171	7.1
Transmission across Chemical Synapses	R-HSA-112315	5.28
Nephrin interactions	R-HSA-373753	8.46

Associated GO terms for Molecular function

GO term	GO ID	GO IC
nucleotide kinase activity	GO:0019201	6.52
nucleobase-containing compound kinase activity	GO:0019205	5.85
purine ribonucleoside triphosphate binding	GO:0035639	2.22
binding	GO:0005488	0.18
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
nucleotide binding	GO:0000166	1.96
protein serine/threonine kinase activity	GO:0004674	3.64
transferase activity	GO:0016740	1.95
nucleoside phosphate binding	GO:1901265	1.96
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
protein kinase activity	GO:0004672	3.27
ATP binding	GO:0005524	2.43
neurexin family protein binding	GO:0042043	7.1
kinase activity	GO:0016301	2.93
guanylate kinase activity	GO:0004385	7.25
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
phosphotransferase activity, phosphate group as acceptor	GO:0016776	6.02
phosphotransferase activity, alcohol group as acceptor	GO:0016773	3.08
adenyl ribonucleotide binding	GO:0032559	2.41
calmodulin binding	GO:0005516	4.55
protein binding	GO:0005515	0.46
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
purine ribonucleotide binding	GO:0032555	2.2
receptor binding	GO:0005102	2.43
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19