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    NPC2 NPC intracellular cholesterol transporter 2 [ Pan troglodytes (chimpanzee) ]

    Gene ID: 450192, updated on 3-Dec-2024

    Summary

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    Official Symbol
    NPC2provided by VGNC
    Official Full Name
    NPC intracellular cholesterol transporter 2provided by VGNC
    Primary source
    VGNC:VGNC:10310
    Locus tag
    CK820_G0002889
    See related
    Ensembl:ENSPTRG00000006535
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Pan troglodytes
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Pan
    Also known as
    EPI-1
    Orthologs
    human mouse all
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    Genomic context

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    See NPC2 in Genome Data Viewer
    Location:
    chromosome: 15
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current NHGRI_mPanTro3-v2.0_pri (GCF_028858775.2) 15 NC_072413.2 (72431374..72445073, complement)
    RS_2023_04 previous assembly NHGRI_mPanTro3-v1.1-hic.freeze_pri (GCF_028858775.1) 14 NC_072412.1 (65726775..65740443, complement)

    Chromosome 15 - NC_072413.2Genomic Context describing neighboring genes Neighboring gene small ribosomal subunit protein uS5-like Neighboring gene synapse differentiation inducing 1 like Neighboring gene ras-related protein Rap-1A-like Neighboring gene iron-sulfur cluster assembly 2 Neighboring gene latent transforming growth factor beta binding protein 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Molecular cloning and characterization of EPI-1, the major protein in chimpanzee (Pan troglodytes) cauda epididymal fluid. Fröhlich O, et al. Biol Reprod, 1996 Apr. PMID 8924506
    2. Manual GO annotation of predictive protein signatures: the InterPro approach to GO curation. Burge S, et al. Database (Oxford), 2012. PMID 22301074, Free PMC Article
    3. TreeGrafter: phylogenetic tree-based annotation of proteins with Gene Ontology terms and other annotations. Tang H, et al. Bioinformatics, 2019 Feb 1. PMID 30032202, Free PMC Article

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RefSeq

    Function Evidence Code Pubs
    enables cholesterol binding IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cholesterol efflux IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    involved_in intracellular cholesterol transport IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    NPC intracellular cholesterol transporter 2
    Names
    Niemann-Pick disease, type C2
    epididymal secretory protein E1
    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_001009075.1 → NP_001009075.1  NPC intracellular cholesterol transporter 2 precursor

      See identical proteins and their annotated locations for NP_001009075.1

      Status: PROVISIONAL

      Source sequence(s)
      U25748
      UniProtKB/Swiss-Prot
      P61917
      UniProtKB/TrEMBL
      A0A2J8PJQ1, A0A2J8PJQ2, A0A663D7B6, K7B6K2
      Related
      ENSPTRP00000061458.1, ENSPTRT00000105227.1
      Conserved Domains (1) summary
      cd00916
      Location:24 → 145
      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_028858775.2-RS_2024_02

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

    Reference NHGRI_mPanTro3-v2.0_pri Primary Assembly

    Genomic

    1. NC_072413.2 Reference NHGRI_mPanTro3-v2.0_pri Primary Assembly

      Range
      72431374..72445073 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_009428048.4 → XP_009426323.1  NPC intracellular cholesterol transporter 2 isoform X2

      See identical proteins and their annotated locations for XP_009426323.1

      UniProtKB/Swiss-Prot
      P61917
      UniProtKB/TrEMBL
      A0A2J8PJQ1, A0A2J8PJQ2, A0A663D7B6, K7B6K2
      Conserved Domains (1) summary
      cd00916
      Location:24 → 145
      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. XM_054665675.1 → XP_054521650.1  NPC intracellular cholesterol transporter 2 isoform X2

      UniProtKB/Swiss-Prot
      P61917
      UniProtKB/TrEMBL
      A0A2J8PJQ1, A0A2J8PJQ2, A0A663D7B6, K7B6K2

    3. XM_054665674.1 → XP_054521649.1  NPC intracellular cholesterol transporter 2 isoform X1

      UniProtKB/TrEMBL
      A0A2J8PJQ7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P61917.1 GenPept UniProtKB/Swiss-Prot:P61917

    Gene LinkOut

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