NPC2

Chr 14q24.3

NPC intracellular cholesterol transporter 2

Aliases:: HE1, NP-C2, EDDM1
MANE:: ENST00000555619.6

OMIM: 601015 ↗NCBI: 10577 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

NPC2 · P61916

v62025-08-01

Predicted Aligned Error matrix for NPC2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

92.9/ 100

Very high

151 residues

Confidence breakdown

Very high(≥ 90)85%
Confident(70–90)3%
Low(50–70)9%
Very low(< 50)2%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Adult onset neurodegenerative disorder
BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomal
Cholestasis
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia
BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

Niemann-Pick disease, type C2
0.79
Niemann-Pick disease type C
0.76
hereditary disease
0.49
Niemann-Pick disease
0.46
open-angle glaucoma
0.42
glaucoma
0.41
Niemann-Pick disease, type C1
0.41
Dystonia
0.37
Niemann-Pick disease type C, juvenile neurologic onset
0.37
Niemann-Pick disease type C, severe early infantile neurologic onset
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

NPC intracellular cholesterol transporter 2

Intracellular cholesterol transporter which acts in concert with NPC1 and plays an important role in the egress of cholesterol from the lysosomal compartment (PubMed:11125141, PubMed:15937921, PubMed:17018531, PubMed:18772377, PubMed:29580834). 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)