Gene table of NPC2 : NPC intracellular cholesterol transporter 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with NPC2	OMIM link	Number of associated genes	genes
607625	NIEMANN-PICK DISEASE, TYPE C2	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	NPC2

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
Lysosome	hsa04142	5.78

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
sterol binding	GO:0032934	5.98
cholesterol binding	GO:0015485	6.1
alcohol binding	GO:0043178	5.53
organic cyclic compound binding	GO:0097159	1.05
lipid binding	GO:0008289	3.26
enzyme binding	GO:0019899	2.27
small molecule binding	GO:0036094	1.89
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
steroid binding	GO:0005496	5.24