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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:601015 Ensembl IDEnsembl:ENSG00000119655 HGNC IDHGNC:HGNC:14537 PHARMGKB IDPA31700 Map Location14q24.3 | |||||
Gene Categories:
TRANSPORTERGO terms in NPC2
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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 |
Gene expression in normal tissue: NPC2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in NPC2
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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 |
Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 2 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in NPC2
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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