NPC2 (Gene)

Organism:

Homo sapiens

Synonyms:EDDM1, ENTREZ:10577, HE1, HGNC:14537, MIM:601015, NM_001363688, NM_001375440, NM_006432, NPC intracellular cholesterol transporter 2, NPC2, NP_001350617, NP_001362369, NP_006423

Omim:OMIM:601015

Id:ENSG00000119655

Hgnc:HGNC:14537

Entrez:10577

Ensembl:ENSG00000119655

Description:NPC intracellular cholesterol transporter 2

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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CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View NPC2's neighborhood in the knowledge graph.

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Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with NPC2.

CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using NPC2.

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GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for NPC2.

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Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with NPC2.

Results found

Linked to

	Label	Description
	GSE216043 7 V 9 CISPLATIN HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE216273,GSE216292 14 V 6 PALBOCICLIB HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE220806 progesterone fibroblast 1 v 3 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE205729,GSE205731 2 V 3 TAZEMETOSTAT HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE202434 GSE202438 talazoparib 6 v 11 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE226249 pirfenidone HL 0 v 7 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE216273 GSE216292 palbociclib 14 v 1 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE48812 sulforaphane 4 v 10 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE48812 sulforaphane 8 v 1 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE164874 5 V 10 PREDNISOLONE HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS

GSE216043 7 V 9 CISPLATIN HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE216273,GSE216292 14 V 6 PALBOCICLIB HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE220806 progesterone fibroblast 1 v 3 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE205729,GSE205731 2 V 3 TAZEMETOSTAT HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE202434 GSE202438 talazoparib 6 v 11 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE226249 pirfenidone HL 0 v 7 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE216273 GSE216292 palbociclib 14 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE48812 sulforaphane 4 v 10 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE48812 sulforaphane 8 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE164874 5 V 10 PREDNISOLONE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

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@CFDE Workbench 2026

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

Consortium

Community

Resources

CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

This repository is under review for potential modification in compliance with Administration directives.