Entity Details

Primary name NPC2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP61916
EntryNameNPC2_HUMAN
FullNameNPC intracellular cholesterol transporter 2
TaxID9606
Evidenceevidence at protein level
Length151
SequenceStatuscomplete
DateCreated2004-06-07
DateModified2021-06-02

Ontological Relatives

GenesNPC2

GO terms

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GOName
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005764 lysosome
GO:0005783 endoplasmic reticulum
GO:0008203 cholesterol metabolic process
GO:0009615 response to virus
GO:0015485 cholesterol binding
GO:0015914 phospholipid transport
GO:0015918 sterol transport
GO:0019747 regulation of isoprenoid metabolic process
GO:0019899 enzyme binding
GO:0030301 cholesterol transport
GO:0032366 intracellular sterol transport
GO:0032367 intracellular cholesterol transport
GO:0032934 sterol binding
GO:0033344 cholesterol efflux
GO:0034383 low-density lipoprotein particle clearance
GO:0035578 azurophil granule lumen
GO:0042632 cholesterol homeostasis
GO:0043202 lysosomal lumen
GO:0043312 neutrophil degranulation
GO:0046836 glycolipid transport
GO:0070062 extracellular exosome
GO:0120020 cholesterol transfer activity

Subcellular Location

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Subcellular Location
Endoplasmic reticulum
Lysosome
Secreted

Domains

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DomainNameCategoryType
IPR003172 MD-2-related lipid-recognition domainDomainDomain
IPR014756 Immunoglobulin E-setFamilyHomologous superfamily
IPR033916 Npc2 like, ML domainDomainDomain
IPR039670 Sterol transport protein NPC2-likeFamilyFamily

Diseases

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Disease IDSourceNameDescription
607625 OMIMNiemann-Pick disease C2 (NPC2)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. The disease is caused by variants affecting the gene represented in this entry.