NPC2


Summary: This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy. [provided by RefSeq, Jul 2008].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
NPC intracellular cholesterol transporter 2MIM:601015Ensembl:ENSG00000119655HGNC:HGNC:14537PA3170014q24.3

Gene Categories:

TRANSPORTER

GO terms in NPC2


Term TypeEvidence TypeGO Term IDGO Des.
MFIPIGO:0005515protein binding
MFIDAGO:0015485cholesterol binding
MFIDAGO:0017127cholesterol transporter activity
MFIPIGO:0019899enzyme binding
CCTASGO:0005576extracellular region
CCIDAGO:0005764lysosome
CCIEAGO:0005783endoplasmic reticulum
CCTASGO:0035578azurophil granule lumen
CCTASGO:0043202lysosomal lumen
CCHDAGO:0070062extracellular exosome
BPIEAGO:0008203cholesterol metabolic process
BPIEPGO:0009615response to virus
BPTASGO:0015914phospholipid transport
BPTASGO:0019747regulation of isoprenoid metabolic process
BPIDAGO:0030301cholesterol transport
BPIDAGO:0032366intracellular sterol transport
BPIDAGO:0032367intracellular cholesterol transport
BPIGIGO:0032367intracellular cholesterol transport
BPIDAGO:0033344cholesterol efflux
BPTASGO:0034383low-density lipoprotein particle clearance
BPIDAGO:0042632cholesterol homeostasis
BPTASGO:0043312neutrophil degranulation
BPTASGO:0046836glycolipid transport

Gene expression in normal tissue: NPC2

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in NPC2


DatabasePathway IDPathway Des.
reactomeR-HSA-168249Innate Immune System
reactomeR-HSA-168256Immune System
reactomeR-HSA-174824Plasma lipoprotein assembly, remodeling, and clearance
reactomeR-HSA-382551Transport of small molecules
reactomeR-HSA-6798695Neutrophil degranulation
reactomeR-HSA-8964038LDL clearance
reactomeR-HSA-8964043Plasma lipoprotein clearance
kegghsa04142Lysosome - Homo sapiens (human)
kegghsa04979Cholesterol metabolism - Homo sapiens (human)
wikipathwaysWP3945TYROBP Causal Network
wikipathwaysWP4180Ebola Virus Pathway on Host
wikipathwaysWP4217Ebola Virus Pathway on Host

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD353PD03259012

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in NPC2

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