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    NPC2 NPC intracellular cholesterol transporter 2 [ Bubalus bubalis (water buffalo) ]

    Gene ID: 102413123, updated on 10-Mar-2024

    Summary

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    Gene symbol
    NPC2
    Gene description
    NPC intracellular cholesterol transporter 2
    Gene type
    protein coding
    RefSeq status
    MODEL
    Organism
    Bubalus bubalis
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bubalus
    Orthologs
    human mouse all
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    Genomic context

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    Location:
    chromosome: 11
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    103 current NDDB_SH_1 (GCF_019923935.1) 11 NC_059167.1 (17509952..17518803)
    102 previous assembly NDDB_DH_1 (GCF_019923925.1) 11 NC_058353.1 (17432996..17441847)

    Chromosome 11 - NC_059167.1Genomic Context describing neighboring genes Neighboring gene latent transforming growth factor beta binding protein 2 Neighboring gene U2 spliceosomal RNA Neighboring gene iron-sulfur cluster assembly 2 Neighboring gene synapse differentiation inducing 1 like Neighboring gene vertebrae development associated

    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. De Novo Transcriptome Assembly of the Chinese Swamp Buffalo by RNA Sequencing and SSR Marker Discovery. Deng T, et al. PLoS One, 2016. PMID 26766209, Free PMC Article

    GeneRIFs: Gene References Into Functions

    General gene information

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    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

    NCBI Reference Sequences (RefSeq)

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    RefSeqs of Annotated Genomes: Bubalus bubalis Annotation Release 103 details...Open this link in a new tab

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

    Reference NDDB_SH_1 Primary Assembly

    Genomic

    1. NC_059167.1 Reference NDDB_SH_1 Primary Assembly

      Range
      17509952..17518803
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006053868.3 → XP_006053930.1  NPC intracellular cholesterol transporter 2

      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 ...
    Nucleotide Protein
    Heading Accession and Version

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