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    NPRL2 NPR2 like, GATOR1 complex subunit [ Homo sapiens (human) ]

    Gene ID: 10641, updated on 2-May-2024

    Summary

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    Official Symbol
    NPRL2provided by HGNC
    Official Full Name
    NPR2 like, GATOR1 complex subunitprovided by HGNC
    Primary source
    HGNC:HGNC:24969
    See related
    Ensembl:ENSG00000114388 MIM:607072; AllianceGenome:HGNC:24969
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NPR2; NPR2L; TUSC4; FFEVF2
    Summary
    Enables protein kinase activity. Contributes to GTPase activator activity. Involved in cellular response to amino acid starvation; negative regulation of TOR signaling; and negative regulation of kinase activity. Located in lysosomal membrane. Part of GATOR1 complex. Implicated in focal epilepsy. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in lymph node (RPKM 7.6), ovary (RPKM 7.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NPRL2 in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (50347330..50350775, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (50377054..50380498, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (50384761..50388206, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50374977-50375548 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19903 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr3:50377372-50378195 and GRCh37_chr3:50378196-50379018 Neighboring gene RASSF1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50380164-50380746 Neighboring gene Ras association domain family member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50382474-50383024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50383025-50383575 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19905 Neighboring gene CYB561D2-LOC101928965 Neighboring gene zinc finger MYND-type containing 10 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50396255-50397145 Neighboring gene cytochrome b561 family member D2 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr3:50401999-50402580 and GRCh37_chr3:50402581-50403164 Neighboring gene uncharacterized LOC101928965 Neighboring gene transmembrane protein 115 Neighboring gene calcium voltage-gated channel auxiliary subunit alpha2delta 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Risk signature identification and NPRL2 affects sunitinib sensitivity in clear cell renal cell carcinoma. Du X, et al. Biochem Biophys Res Commun, 2023 Jun 30. PMID 37121122
    2. NPRL2 down-regulation facilitates the growth of hepatocellular carcinoma via the mTOR pathway and autophagy suppression. Wang YC, et al. Hepatol Commun, 2022 Dec. PMID 36321403, Free PMC Article
    3. Nitrogen Permease Regulator Like-2 (NPRL2 ) truncating mutation causes Ohtahara syndrome with incomplete penetrance: expanding the genotype-phenotype correlations. Zhou X, et al. Clin Dysmorphol, 2022 Oct 1. PMID 35731010
    4. A splicing variation in NPRL2 causing familial focal epilepsy with variable foci: additional cases and literature review. Zhang J, et al. J Hum Genet, 2022 Feb. PMID 34376795, Free PMC Article
    5. NPRL2 enhances autophagy and the resistance to Everolimus in castration-resistant prostate cancer. Chen Z, et al. Prostate, 2019 Jan. PMID 30178500

    See all (59) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Seizure features and outcomes in 50 children with GATOR1 variants: A retrospective study, more favorable for epilepsy surgery.
      Title: Seizure features and outcomes in 50 children with GATOR1 variants: A retrospective study, more favorable for epilepsy surgery.
    2. Risk signature identification and NPRL2 affects sunitinib sensitivity in clear cell renal cell carcinoma.
      Title: Risk signature identification and NPRL2 affects sunitinib sensitivity in clear cell renal cell carcinoma.
    3. NPRL2 down-regulation facilitates the growth of hepatocellular carcinoma via the mTOR pathway and autophagy suppression.
      Title: NPRL2 down-regulation facilitates the growth of hepatocellular carcinoma via the mTOR pathway and autophagy suppression.
    4. Nitrogen Permease Regulator Like-2 (NPRL2 ) truncating mutation causes Ohtahara syndrome with incomplete penetrance: expanding the genotype-phenotype correlations.
      Title: Nitrogen Permease Regulator Like-2 (NPRL2 ) truncating mutation causes Ohtahara syndrome with incomplete penetrance: expanding the genotype-phenotype correlations.
    5. A splicing variation in NPRL2 causing familial focal epilepsy with variable foci: additional cases and literature review.
      Title: A splicing variation in NPRL2 causing familial focal epilepsy with variable foci: additional cases and literature review.
    6. FOXO1 inhibits prostate cancer cell proliferation via suppressing E2F1 activated NPRL2 expression.
      Title: FOXO1 inhibits prostate cancer cell proliferation via suppressing E2F1 activated NPRL2 expression.
    7. NPRL2 reduces the niraparib sensitivity of castration-resistant prostate cancer via interacting with UBE2M and enhancing neddylation.
      Title: NPRL2 reduces the niraparib sensitivity of castration-resistant prostate cancer via interacting with UBE2M and enhancing neddylation.
    8. NPRL2 promotes docetaxel chemoresistance in castration resistant prostate cancer cells by regulating autophagy through the mTOR pathway.
      Title: NPRL2 promotes docetaxel chemoresistance in castration resistant prostate cancer cells by regulating autophagy through the mTOR pathway.
    9. these results demonstrate a new role for the NPRL2, distinct from its function in mTORC1 regulation.
      Title: Tumor suppressor NPRL2 induces ROS production and DNA damage response.
    10. Arg-78 of Nprl2 catalyzes GATOR1-stimulated GTP hydrolysis by the Rag GTPases.
      Title: Arg-78 of Nprl2 catalyzes GATOR1-stimulated GTP hydrolysis by the Rag GTPases.
    Submit: New GeneRIF Correction See all GeneRIFs (32)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Epilepsy, familial focal, with variable foci 2
    MedGen: C4310709 OMIM: 617116 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular response to amino acid starvation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of TORC1 signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of TORC1 signaling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of TORC1 signaling NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of GATOR1 complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    is_active_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lysosomal membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in lysosomal membrane TAS
    Traceable Author Statement
    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
    2810446G01Rik
    G21 protein
    GATOR complex protein NPRL2
    NPR2-like protein
    gene 21 protein
    homologous to yeast nitrogen permease (candidate tumor suppressor)
    mutant NPRL2
    nitrogen permease regulator 2-like protein
    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_006545.5 → NP_006536.3  GATOR1 complex protein NPRL2

      See identical proteins and their annotated locations for NP_006536.3

      Status: VALIDATED

      Source sequence(s)
      AC002481, BC008802, BC056861
      Consensus CDS
      CCDS2826.1
      UniProtKB/Swiss-Prot
      A8K831, Q6FGS2, Q8WTW4, Q9Y249, Q9Y497
      Related
      ENSP00000232501.3, ENST00000232501.8
      Conserved Domains (1) summary
      cl24021
      Location:7 → 370
      NPR3; Nitrogen Permease regulator of amino acid transport activity 3

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      50347330..50350775 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047447310.1 → XP_047303266.1  GATOR1 complex protein NPRL2 isoform X1

    2. XM_011533288.4 → XP_011531590.1  GATOR1 complex protein NPRL2 isoform X2

      Related
      ENST00000479512.5
      Conserved Domains (1) summary
      cl24021
      Location:45 → 367
      NPR3; Nitrogen Permease regulator of amino acid transport activity 3

    3. XM_017005556.3 → XP_016861045.1  GATOR1 complex protein NPRL2 isoform X5

      Conserved Domains (1) summary
      cl24021
      Location:3 → 250
      NPR3; Nitrogen Permease regulator of amino acid transport activity 3

    4. XM_047447311.1 → XP_047303267.1  GATOR1 complex protein NPRL2 isoform X3

    5. XM_047447314.1 → XP_047303270.1  GATOR1 complex protein NPRL2 isoform X6

    6. XM_047447312.1 → XP_047303268.1  GATOR1 complex protein NPRL2 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      50377054..50380498 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344961.1 → XP_054200936.1  GATOR1 complex protein NPRL2 isoform X1

    2. XM_054344962.1 → XP_054200937.1  GATOR1 complex protein NPRL2 isoform X2

    3. XM_054344963.1 → XP_054200938.1  GATOR1 complex protein NPRL2 isoform X3

    4. XM_054344965.1 → XP_054200940.1  GATOR1 complex protein NPRL2 isoform X6

    5. XM_054344964.1 → XP_054200939.1  GATOR1 complex protein NPRL2 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WTW4.2 GenPept UniProtKB/Swiss-Prot:Q8WTW4

    Gene LinkOut

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