NPC2
entrez
10577
canonical
uniprot
P61916
canonical
ensembl
ENSG00000119655
resolver
ensp
ENSP00000442488
resolver
ensp
ENSP00000451112
resolver
ensp
ENSP00000451206
resolver
enst
ENST00000557510
resolver
genesymbol
NPC2
resolver
genesymbol_syn
HE1
resolver
hgnc
HGNC:14537
resolver
uniprot
A0A024R6C0
resolver
uniprot
B4DQV7
resolver
uniprot
G3V3E8
resolver
uniprot
Q15668
resolver
uniprot
Q29413
resolver
uniprot_entry
A0A024R6C0_HUMAN
resolver
uniprot_entry
G3V3E8_HUMAN
resolver
uniprot_entry
NPC2_HUMAN
resolver
uniprot_sec
B4DQV7
resolver
uniprot_sec
Q15668
resolver
uniprot_sec
Q29413
resolver
amino_acid_sequence
MRFLAATFLLLALSTAAQAEPVQFKDCGSVDGVIKEVNVSPCPTQPCQLSKGQSYSVNVTFTSNIQSKSSKAVVHGILMGVPVPFPIPEPDGCKSGINCPIQKDKTYSYLNKLPVKSEYPSIKLVVEWQLQDDKNQSLFCWEIPVQIVSHL
uniprot
proteins
disease_involvement
DISEASE: Niemann-Pick disease C2 (NPC2) [MIM:607625]: A lysosomal storage disorder that affects the viscera and the central nervous system. It is due to defective intracellular processing and transport of low-density lipoprotein derived cholesterol. It causes accumulation of cholesterol in lysosomes, with delayed induction of cholesterol homeostatic reactions. Niemann-Pick disease type C2 has a highly variable clinical phenotype. Clinical features include variable hepatosplenomegaly and severe progressive neurological dysfunction such as ataxia, dystonia and dementia. The age of onset can vary from infancy to late adulthood. {ECO:0000269|PubMed:11125141, ECO:0000269|PubMed:11567215, ECO:0000269|PubMed:12447927, ECO:0000269|PubMed:12955717, ECO:0000269|PubMed:15937921, ECO:0000269|PubMed:16126423, ECO:0000269|PubMed:18772377}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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: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). {ECO:0000250|UniProtKB:Q9Z0J0, ECO:0000269|PubMed:11125141, ECO:0000269|PubMed:15937921, ECO:0000269|PubMed:17018531, ECO:0000269|PubMed:18772377, ECO:0000269|PubMed:18823126, ECO:0000269|PubMed:27238017, ECO:0000269|PubMed:29580834}.
uniprot
proteins
mass_dalton
16570
uniprot
proteins
protein_family
NPC2 family
uniprot
proteins
pubmed
11125141
uniprot
proteins
pubmed
11567215
uniprot
proteins
pubmed
12447927
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
12955717
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15110773
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15937921
uniprot
proteins
pubmed
16126423
uniprot
proteins
pubmed
16548883
uniprot
proteins
pubmed
17018531
uniprot
proteins
pubmed
18772377
uniprot
proteins
pubmed
18823126
uniprot
proteins
pubmed
18832164
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
19232397
uniprot
proteins
pubmed
19664597
uniprot
proteins
pubmed
19723497
uniprot
proteins
pubmed
20674853
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21315718
uniprot
proteins
pubmed
21412152
uniprot
proteins
pubmed
22095670
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27238017
uniprot
proteins
pubmed
27551080
uniprot
proteins
pubmed
29580834
uniprot
proteins
pubmed
8418812
uniprot
proteins
sequence_length
151
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:11125141, ECO:0000269|PubMed:15937921, ECO:0000269|PubMed:19723497, ECO:0000269|PubMed:21315718}. Endoplasmic reticulum {ECO:0000269|PubMed:19723497}. Lysosome {ECO:0000269|PubMed:15937921, ECO:0000269|PubMed:19723497, ECO:0000305|PubMed:11125141}. Note=Interaction with cell-surface M6PR mediates endocytosis and targeting to lysosomes. {ECO:0000305|PubMed:11125141}.
uniprot
proteins