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    Npc2b Niemann-Pick type C-2b [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 41710, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Npc2bprovided by FlyBase
    Official Full Name
    Niemann-Pick type C-2bprovided by FlyBase
    Primary source
    FLYBASE:FBgn0038198
    Locus tag
    Dmel_CG3153
    See related
    AllianceGenome:FB:FBgn0038198
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Drosophila melanogaster
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
    Also known as
    CG3153; CT10556; Dmel\CG3153; DmML2; NPC2; npc2b; NPC2b
    Summary
    Predicted to enable sterol binding activity. Involved in sterol transport. Located in extracellular space. Is expressed in several structures, including adult head; adult heart; dorsal epidermis primordium; embryonic hypopharynx; and epithelium. 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]
    Orthologs
    all
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    Genomic context

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    See Npc2b in Genome Data Viewer
    Location:
    88A8-88A8; 3-54 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 3R NT_033777.3 (14089517..14092425)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 3R NT_033777.2 (9915239..9918147)

    Chromosome 3R - NT_033777.3Genomic Context describing neighboring genes Neighboring gene transfer RNA:Serine-GCT 2-2 Neighboring gene forkhead box, sub-group O Neighboring gene CCHamide-1 Neighboring gene uncharacterized protein

    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. Understanding and Treating Niemann-Pick Type C Disease: Models Matter. Pallottini V, et al. Int J Mol Sci, 2020 Nov 26. PMID 33256121, Free PMC Article
    2. ML -- a conserved domain involved in innate immunity and lipid metabolism. Inohara N, et al. Trends Biochem Sci, 2002 May. PMID 12076526
    3. The acetate switch of an intestinal pathogen disrupts host insulin signaling and lipid metabolism. Hang S, et al. Cell Host Microbe, 2014 Nov 12. PMID 25525791, Free PMC Article
    4. The Effect of Common Inversion Polymorphisms In(2L)t and In(3R)Mo on Patterns of Transcriptional Variation in Drosophila melanogaster. Lavington E, et al. G3 (Bethesda), 2017 Nov 6. PMID 28916647, Free PMC Article
    5. The Fruit Fly Drosophila melanogaster as a Model System to Study Cholesterol Metabolism and Homeostasis. Niwa R, et al. Cholesterol, 2011. PMID 21512589, Free PMC Article

    See all (48) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Homology

    Gene Ontology Provided by FlyBase

    Function Evidence Code Pubs
    enables sterol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables sterol binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables sterol binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of ecdysteroid biosynthetic process IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in intracellular cholesterol transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sexual reproduction HEP PubMed 
    involved_in sterol transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sterol transport IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular space HDA PubMed 

    General protein information

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    Preferred Names
    Niemann-Pick type C-2b
    Names
    CG3153-PA
    CG3153-PB
    Npc2b-PA
    Npc2b-PB

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

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

    Reference assembly

    Genomic

    1. NT_033777.3 Reference assembly

      Range
      14089517..14092425
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_142074.4 → NP_650331.1  Niemann-Pick type C-2b, isoform B [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_650331.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q9VFN7
      Related
      FBpp0082349
      Conserved Domains (1) summary
      cd00916
      Location:23 → 155
      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_169568.3 → NP_731880.1  Niemann-Pick type C-2b, isoform A [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_731880.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q9VFN7
      Related
      FBpp0082350
      Conserved Domains (1) summary
      cd00916
      Location:23 → 155
      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
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9VFN7 Q9VFN7

    Gene LinkOut

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