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    Nprl2 NPR2 like, GATOR1 complex subunit [ Mus musculus (house mouse) ]

    Gene ID: 56032, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Nprl2provided by MGI
    Official Full Name
    NPR2 like, GATOR1 complex subunitprovided by MGI
    Primary source
    MGI:MGI:1914482
    See related
    Ensembl:ENSMUSG00000010057 AllianceGenome:MGI:1914482
    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
    G21; NPR2L; Tusc4; 2810446G01Rik
    Summary
    Predicted to contribute to GTPase activator activity. Involved in cellular response to amino acid starvation and negative regulation of TORC1 signaling. Predicted to be part of GATOR1 complex. Predicted to be active in lysosomal membrane. Is expressed in liver. Human ortholog(s) of this gene implicated in familial focal epilepsy with variable foci 2. Orthologous to human NPRL2 (NPR2 like, GATOR1 complex subunit). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in CNS E18 (RPKM 22.0), whole brain E14.5 (RPKM 21.6) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Nprl2 in Genome Data Viewer
    Location:
    9 F1; 9 58.12 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (107419405..107422905)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (107542177..107545706)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E10583 Neighboring gene transmembrane protein 115 Neighboring gene cytochrome b-561 domain containing 2 Neighboring gene STARR-positive B cell enhancer ABC_E10584 Neighboring gene STARR-positive B cell enhancer ABC_E3857 Neighboring gene zinc finger, MYND domain containing 10 Neighboring gene predicted gene, 34106 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:107453431-107453584 Neighboring gene Ras association (RalGDS/AF-6) domain family member 1 Neighboring gene STARR-positive B cell enhancer ABC_E9335 Neighboring gene predicted gene 9917

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data 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

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    Related articles in PubMed

    1. Loss of a Negative Regulator of mTORC1 Induces Aerobic Glycolysis and Altered Fiber Composition in Skeletal Muscle. Dutchak PA, et al. Cell Rep, 2018 May 15. PMID 29768191, Free PMC Article
    2. NPRL2 Inhibition of mTORC1 Controls Sodium Channel Expression and Brain Amino Acid Homeostasis. Hui JB, et al. eNeuro, 2022 Mar-Apr. PMID 35165201, Free PMC Article
    3. Increased glycine contributes to synaptic dysfunction and early mortality in Nprl2 seizure model. Dentel B, et al. iScience, 2022 May 20. PMID 35602938, Free PMC Article
    4. Sgpl1 deletion elevates S1P levels, contributing to NPR2 inactivity and p21 expression that block germ cell development. Yuan F, et al. Cell Death Dis, 2021 Jun 3. PMID 34083520, Free PMC Article
    5. Dorsal telencephalon-specific Nprl2- and Nprl3-knockout mice: novel mouse models for GATORopathy. Ishida S, et al. Hum Mol Genet, 2022 May 4. PMID 34965576, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Dorsal telencephalon-specific Nprl2- and Nprl3-knockout mice: novel mouse models for GATORopathy.
      Title: Dorsal telencephalon-specific Nprl2- and Nprl3-knockout mice: novel mouse models for GATORopathy.
    2. Sgpl1 deletion elevates S1P levels, contributing to NPR2 inactivity and p21 expression that block germ cell development.
      Title: Sgpl1 deletion elevates S1P levels, contributing to NPR2 inactivity and p21 expression that block germ cell development.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    contributes_to GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activator activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables GTPase activator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in cellular response to amino acid starvation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cellular response to amino acid starvation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to amino acid starvation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of TORC1 signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of TORC1 signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of TORC1 signaling ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of kinase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of autophagy IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of GATOR1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of GATOR1 complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of GATOR1 complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in lysosomal membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in lysosomal membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in vacuolar membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    GATOR1 complex protein NPRL2
    Names
    GATOR complex protein NPRL2
    NPR2-like protein
    gene 21 protein
    nitrogen permase homolog
    nitrogen permease regulator 2-like protein
    nitrogen permease regulator-like 2
    tumor suppressor candidate 4

    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_018879.2 → NP_061367.1  GATOR1 complex protein NPRL2

      See identical proteins and their annotated locations for NP_061367.1

      Status: VALIDATED

      Source sequence(s)
      AI843290, AK010331, BY131176
      Consensus CDS
      CCDS23492.1
      UniProtKB/Swiss-Prot
      Q9WUE4
      Related
      ENSMUSP00000010201.4, ENSMUST00000010201.9
      Conserved Domains (1) summary
      cl24021
      Location:7 → 370
      NPR3; Nitrogen Permease regulator of amino acid transport activity 3

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000075.7 Reference GRCm39 C57BL/6J

      Range
      107419405..107422905
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006511768.3 → XP_006511831.1  GATOR1 complex protein NPRL2 isoform X1

      Conserved Domains (1) summary
      cl24021
      Location:7 → 311
      NPR3; Nitrogen Permease regulator of amino acid transport activity 3

    2. XM_036155141.1 → XP_036011034.1  GATOR1 complex protein NPRL2 isoform X2

      Conserved Domains (1) summary
      cl24021
      Location:7 → 240
      NPR3; Nitrogen Permease regulator of amino acid transport activity 3

    3. XM_006511769.5 → XP_006511832.1  GATOR1 complex protein NPRL2 isoform X3

      Conserved Domains (1) summary
      cl24021
      Location:7 → 222
      NPR3; Nitrogen Permease regulator of amino acid transport activity 3

    RNA

    1. XR_379769.3 RNA Sequence

    2. XR_004935491.1 RNA Sequence

      Related
      ENSMUST00000193628.6

    3. XR_003947955.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9WUE4.1 GenPept UniProtKB/Swiss-Prot:Q9WUE4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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