Version 5.4
Homo sapiens Gene: NPC2
Summary
InnateDB Gene IDBG-12155.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NPC2
Gene Name Niemann-Pick disease, type C2
Synonyms EDDM1; HE1
Species Homo sapiens
Ensembl Gene ENSG00000119655
Encoded Proteins
IDBP-12157
Niemann-Pick disease, type C2
IDBP-374253
Niemann-Pick disease, type C2
IDBP-599856
Niemann-Pick disease, type C2
IDBP-601869
Niemann-Pick disease, type C2
IDBP-600032
Niemann-Pick disease, type C2
IDBP-596589
Niemann-Pick disease, type C2
IDBP-598152
Niemann-Pick disease, type C2
IDBP-588951
Niemann-Pick disease, type C2
IDBP-594671
Niemann-Pick disease, type C2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 14:74476192-74494177
Strand Reverse strand
Band q24.3
Transcripts
ENST00000238633 ENSP00000238633
ENST00000434013 ENSP00000412103
ENST00000541064 ENSP00000442488
ENST00000555619 ENSP00000451112
ENST00000554482 ENSP00000451314
ENST00000553490 ENSP00000451180
ENST00000556009 ENSP00000450502
ENST00000557510 ENSP00000451206
ENST00000555592 ENSP00000450887
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
Experimentally validated
Total 14 [view]
Protein-Protein 14 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0015485 cholesterol binding
GO:0019899 enzyme binding
Biological Process
GO:0008203 cholesterol metabolic process
GO:0009615 response to virus
GO:0015914 phospholipid transport
GO:0019747 regulation of isoprenoid metabolic process
GO:0030301 cholesterol transport
GO:0032366 intracellular sterol transport
GO:0032367 intracellular cholesterol transport
GO:0033344 cholesterol efflux
GO:0042632 cholesterol homeostasis
GO:0046836 glycolipid transport
Cellular Component
GO:0005764 lysosome
GO:0005783 endoplasmic reticulum
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000021242
View Gene Order
ENSBTAG00000021955
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa04142
Lysosome pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 10577
UniGene Hs.433222
RefSeq NM_006432 XM_006720004
HUGO HGNC:14537
OMIM 601015
CCDS CCDS32121
HPRD 03008
IMGT
EMBL
GenPept
RNA Seq Atlas 10577

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca