Gene table of PCLO : piccolo presynaptic cytomatrix protein

Gene-disease associations table

Disease ID	Disease name	Source of annotation with PCLO	OMIM link	Number of associated genes	genes
PS607596	PONTOCEREBELLAR HYPOPLASIA	ClinVar, OMIM	link to OMIM	13	AMPD2, EXOSC3, CLP1, SEPSECS, TSEN34, TSEN2, PCLO, VPS53, TSEN54, KCNT1, RARS2, VRK1, CHMP1A

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
Insulin secretion	hsa04911	6.18

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cation binding	GO:0043169	1.4
phospholipid binding	GO:0005543	3.91
calcium-dependent phospholipid binding	GO:0005544	5.71
lipid binding	GO:0008289	3.26
ion binding	GO:0043167	1.36
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
profilin binding	GO:0005522	7.54
metal ion binding	GO:0046872	1.41
calcium ion binding	GO:0005509	3.17