Version 5.4
Mus musculus Gene: Npc2
Summary
InnateDB Gene IDBG-157076.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Npc2
Gene Name Niemann Pick type C2
Synonyms 2700012J19Rik; AA408070; AU045843; HE1
Species Mus musculus
Ensembl Gene ENSMUSG00000021242
Encoded Proteins
IDBP-157078
Niemann Pick type C2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000119655:
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 12:84754560-84773112
Strand Reverse strand
Band D1
Transcripts
ENSMUST00000021668 ENSMUSP00000021668
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 12 interaction(s) predicted by orthology.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 12 [view]
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:0030301 cholesterol transport
GO:0032366 intracellular sterol transport
GO:0032367 intracellular cholesterol transport
GO:0033344 cholesterol efflux
GO:0042632 cholesterol homeostasis
Cellular Component
GO:0005576 extracellular region
GO:0005764 lysosome
GO:0005783 endoplasmic reticulum
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000119655
View Gene Order
ENSBTAG00000021955
Not yet available
Pathways
NETPATH
REACTOME
KEGG
mmu04142
Lysosome pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
KEGG
hsa04142
Lysosome pathway
INOH
PID NCI
Cross-References
SwissProt Q9Z0J0
TrEMBL
UniProt Splice Variant
Entrez Gene 67963
UniGene Mm.282556
RefSeq NM_023409
OMIM
CCDS CCDS26050
HPRD
IMGT
MGI ID MGI:1915213
MGI Symbol Npc2
EMBL AB021289 AK008603 AK009127 AK151067 AK151133 AK153020 AK153203 AK158624 AK165263 AK167869 AK170327 BC003471 BC007190
GenPept AAH03471 AAH07190 BAA35183 BAB25771 BAB26090 BAE30083 BAE30141 BAE31654 BAE31803 BAE34585 BAE38111 BAE39885 BAE41721
RNA Seq Atlas 67963

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