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

    Gene ID: 67963, updated on 10-Aug-2021

    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
    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; AA408070; AU045843; 2700012J19Rik
    Expression
    Broad expression in genital fat pad adult (RPKM 400.1), lung adult (RPKM 212.6) and 17 other tissues See more
    Orthologs
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    Genomic context

    See Npc2 in Genome Data Viewer
    Location:
    12; 12 D1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109 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)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 12 NC_000078.5 (86095509..86114062, complement)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene vertebrae development associated Neighboring gene synapse differentiation inducing 1 like Neighboring gene iron-sulfur cluster assembly 2 Neighboring gene latent transforming growth factor beta binding protein 2 Neighboring gene RIKEN cDNA D030025P21 gene

    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

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables cholesterol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    enables enzyme binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables sterol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cholesterol efflux IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 
    acts_upstream_of_or_within cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    involved_in intracellular cholesterol transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 sterol transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in intracellular sterol transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    acts_upstream_of_or_within lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within lipid transport IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within steroid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sterol transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular space HDA PubMed 
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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)

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    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

      See identical proteins and their annotated locations for NP_075898.1

      Status: VALIDATED

      Source sequence(s)
      AC122310, AI391386, AK158624, BE952809
      Consensus CDS
      CCDS26050.1
      UniProtKB/Swiss-Prot
      Q9Z0J0
      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: Mus musculus Annotation Release 109 details...Open this link in a new tab

    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)
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