U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    Npc2 NPC intracellular cholesterol transporter 2 [ Mus musculus (house mouse) ]

    Gene ID: 67963, updated on 9-Dec-2024

    Summary

    Official Symbol
    Npc2provided by MGI
    Official Full Name
    NPC intracellular cholesterol transporter 2provided by MGI
    Primary source
    MGI:MGI:1915213
    See related
    Ensembl:ENSMUSG00000021242 AllianceGenome:MGI:1915213
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    HE1; 2700012J19Rik
    Summary
    Enables cholesterol binding activity. Involved in cholesterol efflux and intracellular cholesterol transport. Acts upstream of or within several processes, including cholesterol storage; sterol metabolic process; and sterol transport. Located in extracellular space. Is active in lysosome. Is expressed in brain; paravertebral ganglion; respiratory system; stomach; and ventral grey horn. Used to study Niemann-Pick disease. Human ortholog(s) of this gene implicated in Niemann-Pick disease and Niemann-Pick disease type C2. Orthologous to human NPC2 (NPC intracellular cholesterol transporter 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in genital fat pad adult (RPKM 400.1), lung adult (RPKM 212.6) and 17 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Npc2 in Genome Data Viewer
    Location:
    12 D1; 12 39.37 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (84801333..84819886, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (84754559..84773112, complement)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene vertebrae development associated Neighboring gene STARR-seq mESC enhancer starr_32749 Neighboring gene synapse differentiation inducing 1 like Neighboring gene STARR-positive B cell enhancer mm9_chr12:86096267-86096568 Neighboring gene iron-sulfur cluster assembly 2 Neighboring gene latent transforming growth factor beta binding protein 2 Neighboring gene STARR-seq mESC enhancer starr_32756 Neighboring gene STARR-seq mESC enhancer starr_32757 Neighboring gene RIKEN cDNA D030025P21 gene Neighboring gene STARR-positive B cell enhancer ABC_E7160

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables cholesterol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cholesterol binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables cholesterol binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables cholesterol binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables cholesterol transfer activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables cholesterol transfer activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables enzyme binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables enzyme binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in cholesterol efflux IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cholesterol efflux IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cholesterol efflux ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cholesterol homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cholesterol homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within cholesterol storage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cholesterol transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cholesterol transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cholesterol transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    acts_upstream_of_or_within gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intracellular cholesterol transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intracellular cholesterol transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within intracellular cholesterol transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in intracellular cholesterol transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in intracellular sterol transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in intracellular sterol transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in response to virus IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within sterol metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within sterol transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular space HDA PubMed 
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in lysosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lysosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lysosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 

    General protein information

    Preferred Names
    NPC intracellular cholesterol transporter 2
    Names
    Niemann-Pick type C2
    epididymal secretory protein E1
    mE1
    niemann Pick type C2 protein homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_023409.4NP_075898.1  NPC intracellular cholesterol transporter 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC122310, AI391386, AK158624, BE952809
      Consensus CDS
      CCDS26050.1
      UniProtKB/Swiss-Prot
      Q3UB23, Q9Z0J0
      UniProtKB/TrEMBL
      Q3TXQ4, Q3U3C2
      Related
      ENSMUSP00000021668.9, ENSMUST00000021668.10
      Conserved Domains (1) summary
      cd00916
      Location:24145
      Npc2_like; Niemann-Pick type C2 (Npc2) is a lysosomal protein in which a mutation in the gene causes a rare form of Niemann-Pick type C disease, an autosomal recessive lipid storage disorder characterized by accumulation of low-density lipoprotein-derived ...

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000078.7 Reference GRCm39 C57BL/6J

      Range
      84801333..84819886 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)