Gene

Gene details

Summary of gene annotations and link-out to annotation databases

Basic gene annotations are collected from Uniprot and displayed with links to original sources. A quick link to explore the genomic context with Uniprot Browser is available.

NPC2 - NPC intracellular cholesterol transporter 2

Function

Intracellular cholesterol transporter which acts in concert with NPC1 and plays an important role in the egress of cholesterol from the lysosomal compartment (PubMed:17018531, PubMed:11125141, PubMed:18772377, PubMed:29580834, PubMed:15937921). Unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes is transferred by NPC2 to the cholesterol-binding pocket in the N-terminal domain of NPC1 (PubMed:17018531, PubMed:18772377, PubMed:27238017). May bind and mobilize cholesterol that is associated with membranes (PubMed:18823126). NPC2 binds cholesterol with a 1:1 stoichiometry (PubMed:17018531). Can bind a variety of sterols, including lathosterol, desmosterol and the plant sterols stigmasterol and beta-sitosterol (PubMed:17018531). The secreted form of NCP2 regulates biliary cholesterol secretion via stimulation of ABCG5/ABCG8-mediated cholesterol transport (By similarity).

Uniprot Browser
Entrez IDEnsEMBL IDPreferred NameUniprot ID
10577 ENSG00000119655 NPC2 P61916

Gene Regulons

List of regulons containing the gene.

A gene can be associated with multiple causal flows as a member of multiple regulons

RegulonProgram# genes# regulators# causal flows
R-108Pr-7119
R-112Pr-71120
R-137Pr-71122
R-207Pr-71144
R-257Pr-71156
R-326Pr-71129
R-350Pr-71195
R-370Pr-71130
R-413Pr-71123
R-93Pr-71117