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    NPC2 NPC intracellular cholesterol transporter 2 [ Homo sapiens (human) ]

    Gene ID: 10577, updated on 8-Jul-2021

    Summary

    Official Symbol
    NPC2provided by HGNC
    Official Full Name
    NPC intracellular cholesterol transporter 2provided by HGNC
    Primary source
    HGNC:HGNC:14537
    See related
    Ensembl:ENSG00000119655 MIM:601015
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HE1; EDDM1
    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]
    Expression
    Ubiquitous expression in lung (RPKM 202.8), thyroid (RPKM 113.6) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See NPC2 in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (74479935..74493512, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (74946638..74960215, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ribosomal protein S2 pseudogene 2 Neighboring gene synapse differentiation inducing 1 like Neighboring gene microRNA 4709 Neighboring gene RAP1A, member of RAS oncogene family pseudogene Neighboring gene iron-sulfur cluster assembly 2 Neighboring gene latent transforming growth factor beta binding protein 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag NPC2-deficient cells exhibit Gag accumulation in late endosomal/lysosomal (LE/L) compartments of these cells as well as decreased NPC1 expression after HIV infection PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC1333

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cholesterol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables cholesterol binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cholesterol transfer activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cholesterol homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cholesterol homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cholesterol transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in glycolipid transport TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in intermembrane lipid transfer IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular cholesterol transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in intracellular cholesterol transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within intracellular cholesterol transport IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in intracellular cholesterol transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intracellular sterol transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in phospholipid transport TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of isoprenoid metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in response to virus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in sterol transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in azurophil granule lumen TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in lysosomal lumen TAS
    Traceable Author Statement
    more info
     
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    NPC intracellular cholesterol transporter 2
    Names
    Niemann-Pick disease type C2 protein
    epididymal protein 1
    epididymis secretory sperm binding protein
    human epididymis-specific protein 1
    tissue-specific secretory protein

    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.

    Genomic

    1. NG_007117.1 RefSeqGene

      Range
      4870..18447
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001363688.1NP_001350617.1  NPC intracellular cholesterol transporter 2 isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC005479, CB265591
      Consensus CDS
      CCDS86413.1
      Related
      ENSP00000451206.1, ENST00000557510.5
      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 ...
    2. NM_001375440.1NP_001362369.1  NPC intracellular cholesterol transporter 2 isoform 3 precursor

      Status: REVIEWED

      Source sequence(s)
      AK298975, GQ891387
      Related
      ENSP00000442488.1, ENST00000541064.5
      Conserved Domains (1) summary
      cd00916
      Location:24123
      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 ...
    3. NM_006432.5NP_006423.1  NPC intracellular cholesterol transporter 2 isoform 2 precursor

      See identical proteins and their annotated locations for NP_006423.1

      Status: REVIEWED

      Source sequence(s)
      GQ891387
      Consensus CDS
      CCDS32121.1
      UniProtKB/Swiss-Prot
      P61916
      UniProtKB/TrEMBL
      A0A024R6C0
      Related
      ENSP00000451112.2, ENST00000555619.6
      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: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

      Range
      74479935..74493512 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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