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
	T60-Adrenal Consensus Gene Set (Entity type)	A Gene Set from MoTrPAC
	T61-Colon Consensus Gene Set (Entity type)	A Gene Set from MoTrPAC
	GSE179112 GSE179113 hydroxyl Hutt45 4 v 3 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE118548 trametinib T84 1 v 2 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE226525 GSE226527 HNRNPH2 knockout 4 v 8 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE254526 GSE254528 MI-1 Kasumi-1 0 v 1 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE214505 AKR1B1 knockdown A-549 3 v 2 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE193993 SSTR2 knockout 0 v 2 human up Gene Set (Entity type)	A Gene Set from LINCS
	Ataxia Phenotype (Entity type)	Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of el...
	GSE199859 A-7 HCA7 1 v 2 human up Gene Set (Entity type)	A Gene Set from LINCS

T60-Adrenal Consensus

Gene Set (Entity type)

A Gene Set from MoTrPAC

T61-Colon Consensus

Gene Set (Entity type)

A Gene Set from MoTrPAC

GSE179112 GSE179113 hydroxyl Hutt45 4 v 3 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE118548 trametinib T84 1 v 2 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE226525 GSE226527 HNRNPH2 knockout 4 v 8 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE254526 GSE254528 MI-1 Kasumi-1 0 v 1 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE214505 AKR1B1 knockdown A-549 3 v 2 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE193993 SSTR2 knockout 0 v 2 human up

Gene Set (Entity type)

A Gene Set from LINCS

Ataxia

Phenotype (Entity type)

Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of el...

GSE199859 A-7 HCA7 1 v 2 human up

Gene Set (Entity type)

A Gene Set from LINCS

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Community

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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.