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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| NPC intracellular cholesterol transporter 2 | MIM:601015 | Ensembl:ENSG00000119655 | HGNC:HGNC:14537 | PA31700 | 14q24.3 |
Gene Categories:
TRANSPORTERGO terms in NPC2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0015485 | cholesterol binding |
| MF | IDA | GO:0017127 | cholesterol transporter activity |
| MF | IPI | GO:0019899 | enzyme binding |
| CC | TAS | GO:0005576 | extracellular region |
| CC | IDA | GO:0005764 | lysosome |
| CC | IEA | GO:0005783 | endoplasmic reticulum |
| CC | TAS | GO:0035578 | azurophil granule lumen |
| CC | TAS | GO:0043202 | lysosomal lumen |
| CC | HDA | GO:0070062 | extracellular exosome |
| BP | IEA | GO:0008203 | cholesterol metabolic process |
| BP | IEP | GO:0009615 | response to virus |
| BP | TAS | GO:0015914 | phospholipid transport |
| BP | TAS | GO:0019747 | regulation of isoprenoid metabolic process |
| BP | IDA | GO:0030301 | cholesterol transport |
| BP | IDA | GO:0032366 | intracellular sterol transport |
| BP | IDA | GO:0032367 | intracellular cholesterol transport |
| BP | IGI | GO:0032367 | intracellular cholesterol transport |
| BP | IDA | GO:0033344 | cholesterol efflux |
| BP | TAS | GO:0034383 | low-density lipoprotein particle clearance |
| BP | IDA | GO:0042632 | cholesterol homeostasis |
| BP | TAS | GO:0043312 | neutrophil degranulation |
| BP | TAS | GO:0046836 | glycolipid transport |
Gene expression in normal tissue: NPC2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in NPC2
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-174824 | Plasma lipoprotein assembly, remodeling, and clearance |
| reactome | R-HSA-382551 | Transport of small molecules |
| reactome | R-HSA-6798695 | Neutrophil degranulation |
| reactome | R-HSA-8964038 | LDL clearance |
| reactome | R-HSA-8964043 | Plasma lipoprotein clearance |
| kegg | hsa04142 | Lysosome - Homo sapiens (human) |
| kegg | hsa04979 | Cholesterol metabolism - Homo sapiens (human) |
| wikipathways | WP3945 | TYROBP Causal Network |
| wikipathways | WP4180 | Ebola Virus Pathway on Host |
| wikipathways | WP4217 | Ebola Virus Pathway on Host |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in NPC2
CLASSFICATION
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