Gene table of PLCE1 : phospholipase C epsilon 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with PLCE1	OMIM link	Number of associated genes	genes
PS256300	NEPHROTIC SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	14	LAMB2, NUP93, NUP205, NPHS1, OPA1, NPHS2, ADCK4, NUP107, WT1, ARHGDIA, PTPRO, PLCE1, EMP2, DGKE

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
Inositol phosphate metabolism	hsa00562	6.72
Proteoglycans in cancer	hsa05205	5.02
Metabolic pathways	hsa01100	2.49
cAMP signaling pathway	hsa04024	5.05
Phosphatidylinositol signaling system	hsa04070	6.38
Rap1 signaling pathway	hsa04015	4.97
Ras signaling pathway	hsa04014	4.9
Thyroid hormone signaling pathway	hsa04919	5.82
Calcium signaling pathway	hsa04020	5.22

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Inositol phosphate metabolism	R-HSA-1483249	7.52
Metabolism	R-HSA-1430728	2.34
Synthesis of IP3 and IP4 in the cytosol	R-HSA-1855204	8.34

Associated GO terms for Molecular function

GO term	GO ID	GO IC
hydrolase activity	GO:0016787	1.9
phosphatidylinositol phospholipase C activity	GO:0004435	6.41
protein binding	GO:0005515	0.46
catalytic activity	GO:0003824	1.05
receptor signaling protein activity	GO:0005057	4.76
phosphoric diester hydrolase activity	GO:0008081	5.23
guanyl-nucleotide exchange factor activity	GO:0005085	4.02
enzyme binding	GO:0019899	2.27
Ras GTPase binding	GO:0017016	4.2
hydrolase activity, acting on ester bonds	GO:0016788	3.1
small GTPase binding	GO:0031267	4.13
GTPase binding	GO:0051020	4.05
phospholipase C activity	GO:0004629	6.3
binding	GO:0005488	0.18
signal transducer activity	GO:0004871	2.28
phosphoric ester hydrolase activity	GO:0042578	3.82
phospholipase activity	GO:0004620	5.16
molecular function regulator	GO:0098772	2.51
lipase activity	GO:0016298	4.96