Gene table of PIKFYVE : phosphoinositide kinase, FYVE-type zinc finger containing

Gene-disease associations table

Disease ID	Disease name	Source of annotation with PIKFYVE	OMIM link	Number of associated genes	genes
121850	CORNEAL DYSTROPHY, FLECK	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	PIKFYVE

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Annotation of the gene PIKFYVE

Associated genes in ENSEMBL

ENSG00000115020

Associated proteins - SwissProt Accession ID

Q9Y2I7

Associated PDB IDs

Cytogenetic Band

2q34

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Inositol phosphate metabolism	hsa00562	6.72
Regulation of actin cytoskeleton	hsa04810	4.9
Phagosome	hsa04145	5.27
Phosphatidylinositol signaling system	hsa04070	6.38

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Synthesis of PIPs at the Golgi membrane	R-HSA-1660514	8.81
Synthesis of PIPs at the early endosome membrane	R-HSA-1660516	9.28
Synthesis of PIPs at the late endosome membrane	R-HSA-1660517	9.66
Phospholipid metabolism	R-HSA-1483257	5.83
PI Metabolism	R-HSA-1483255	7.31
Metabolism	R-HSA-1430728	2.34
Metabolism of lipids and lipoproteins	R-HSA-556833	3.79

Associated GO terms for Molecular function

GO term	GO ID	GO IC
phosphatase activity	GO:0016791	4.11
purine ribonucleoside triphosphate binding	GO:0035639	2.22
phosphoric ester hydrolase activity	GO:0042578	3.82
binding	GO:0005488	0.18
phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity	GO:0043813	8.35
ion binding	GO:0043167	1.36
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
cation binding	GO:0043169	1.4
transition metal ion binding	GO:0046914	2.48
1-phosphatidylinositol-3-phosphate 5-kinase activity	GO:0000285	8.64
nucleotide binding	GO:0000166	1.96
transferase activity	GO:0016740	1.95
purine nucleoside binding	GO:0001883	2.22
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
metal ion binding	GO:0046872	1.41
ATP binding	GO:0005524	2.43
hydrolase activity	GO:0016787	1.9
1-phosphatidylinositol-4-phosphate 5-kinase activity	GO:0016308	7.66
phosphatidylinositol phosphate phosphatase activity	GO:0052866	6.34
kinase activity	GO:0016301	2.93
phosphatidylinositol phosphate kinase activity	GO:0016307	6.97
hydrolase activity, acting on ester bonds	GO:0016788	3.1
phosphatidylinositol bisphosphate phosphatase activity	GO:0034593	6.44
catalytic activity	GO:0003824	1.05
phosphatidylinositol phosphate 5-phosphatase activity	GO:0034595	7.17
small molecule binding	GO:0036094	1.89
adenyl nucleotide binding	GO:0030554	2.4
phosphotransferase activity, alcohol group as acceptor	GO:0016773	3.08
organic cyclic compound binding	GO:0097159	1.05
carbohydrate derivative binding	GO:0097367	2.03
adenyl ribonucleotide binding	GO:0032559	2.41
protein binding	GO:0005515	0.46
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19
zinc ion binding	GO:0008270	2.66