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NPRL2 Gene

protein-coding   GIFtS: 52
GCID: GC03M050384

Nitrogen Permease Regulator-Like 2 (S. Cerevisiae)

(Previous name: tumor suppressor candidate 4)
(Previous symbol: TUSC4)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Nitrogen Permease Regulator-Like 2 (S. Cerevisiae)1 2     NPR2L2 5
Tumor Suppressor Candidate 41 2 3     2810446G01Rik2
TUSC41 2 3     NPR22
Gene 21 Protein2 3     Homologous To Yeast Nitrogen Permease (Candidate Tumor Suppressor)2
G21 Protein2 3     Nitrogen Permease Regulator 2-Like Protein2
NPR2-Like Protein2 3     

External Ids:    HGNC: 249691   Entrez Gene: 106412   Ensembl: ENSG000001143887   OMIM: 6070725   UniProtKB: Q8WTW43   

Export aliases for NPRL2 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for NPRL2 Gene:
NPRL2 (nitrogen permease regulator-like 2 (S. cerevisiae)) is a protein-coding gene. GO annotations related to this gene include GTPase activator activity and protein kinase activity.

UniProtKB/Swiss-Prot: NPRL2_HUMAN, Q8WTW4
Function: Suppresses Src-dependent tyrosine phosphorylation and activation of PDPK1 and its downstream signaling.
Down-regulates PDPK1 kinase activity by interfering with tyrosine phosphorylation at 'Tyr-9', 'Tyr-373' and
'Tyr-376' residues. May act as a tumor suppressor. Suppresses cell growth and enhances sensitivity to various
anticancer drugs. As a component of the GATOR1 complex, inhibitor of the amino acid-sensing branch of the TORC1
pathway. The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC-containing
heterodimers, thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling

summary for NPRL2 Gene:
Natriuretic peptide (NP) receptors are single transmembrane catalytic receptors with intracellular guanylyl
cyclase activity. There are three isoforms of NP receptors; NPR1, NPR2 and NPR3, which have conserved
catalytic and regulatory domains and divergent ligand binding domains. Natruiretic peptide receptors bind
alpha-atrial natriuretic peptide, brain natriuretic peptide and type C-natriuretic peptide with varying
affinity and are found in the brain, vasculature and kidney. The main physiological role of NP receptors is
in homeostasis of body fluid volume.

Gene Wiki entry for NPRL2 (TUSC4) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NT_022517.19  NC_018914.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for NPRL2
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNPRL2 promoter sequence
   Search Chromatin IP Primers for NPRL2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NPRL2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21.3   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p21.3

NPRL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NPRL2 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M050384:  view genomic region     (about GC identifiers)

Start:
50,384,761 bp from pter      End:
50,388,522 bp from pter
Size:
3,762 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: NPRL2_HUMAN, Q8WTW4 (See protein sequence)
Recommended Name: Nitrogen permease regulator 2-like protein  
Size: 380 amino acids; 43658 Da
Subunit: Forms a heterodimer with NPRL3. Interacts with PDPK1. Within the GATOR complex, component of the GATOR1
subcomplex, made of DEPDC5, NPRL2 and NPRL3. GATOR1 mediates the strong interaction of the GATOR complex with
RRAGA/RRAGC and RRAGB/RRAGC heterodimers
Secondary accessions: A8K831 Q6FGS2 Q9Y249 Q9Y497
Alternative splicing: 2 isoforms:  Q8WTW4-1   Q8WTW4-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NPRL2: NX_Q8WTW4

Explore proteomics data for NPRL2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NPRL2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006536.3  
    ENSEMBL proteins: 
     ENSP00000232501   ENSP00000412779   ENSP00000388358   ENSP00000388019   ENSP00000396172  
     ENSP00000415045   ENSP00000389429  

    NPRL2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for NPRL2
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    Novus Biologicals NPRL2 Protein
    Novus Biologicals NPRL2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for NPRL2 

     
    antibodies-online proteins for NPRL2 (5 products) 

     
    antibodies-online peptides for NPRL2

    NPRL2 Antibody Products:

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    antibodies-online antibodies for NPRL2 (40 products) 

    NPRL2 Assay Products:

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    Search eBioscience for ELISAs for NPRL2 
    antibodies-online kits for NPRL2 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR009348 NPR2

    Graphical View of Domain Structure for InterPro Entry Q8WTW4

    ProtoNet protein and cluster: Q8WTW4

    1 Blocks protein domain: IPB009348 Nitrogen permease regulator 2

    UniProtKB/Swiss-Prot: NPRL2_HUMAN, Q8WTW4
    Similarity: Belongs to the NPR2 family


    Find genes that share domains with NPRL2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NPRL2_HUMAN, Q8WTW4
    Function: Suppresses Src-dependent tyrosine phosphorylation and activation of PDPK1 and its downstream signaling.
    Down-regulates PDPK1 kinase activity by interfering with tyrosine phosphorylation at 'Tyr-9', 'Tyr-373' and
    'Tyr-376' residues. May act as a tumor suppressor. Suppresses cell growth and enhances sensitivity to various
    anticancer drugs. As a component of the GATOR1 complex, inhibitor of the amino acid-sensing branch of the TORC1
    pathway. The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC-containing
    heterodimers, thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity IDA18616680
    GO:0005096GTPase activator activity IEA--
    GO:0005515protein binding IPI18616680
         
    Find genes that share ontologies with NPRL2           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for NPRL2

    miRNA
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    miRTarBase miRNAs that target NPRL2:
    hsa-mir-26b-5p (MIRT029030)

    Block miRNA regulation of human, mouse, rat NPRL2 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate NPRL2:
    hsa-miR-203
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    GenScript: all cDNA clones in your preferred vector: NPRL2 (NM_006545)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NPRL2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPRL2
    Addgene plasmids for NPRL2 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPRL2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus2

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----

    Find genes that share ontologies with NPRL2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for NPRL2 (see all 9)
        Sertoli-Sertoli Cell Junction Dynamics
    Relaxin Pathway
    Intracellular Calcium Signaling
    Visual Cycle in Retinal Rods
    CRHR Pathway


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NPRL2
    Interactions:

        Search GeneGlobe Interaction Network for NPRL2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for NPRL2 (Q8WTW41, 2, 3 ENSP000002325014) via UniProtKB, MINT, STRING, and/or I2D (see all 59)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NPRL3Q129801, 3, ENSP000003828344EBI-1043552,EBI-2650314 I2D: score=2 STRING: ENSP00000382834
    PRKAR1AP106441, 3, ENSP000003514104EBI-1043552,EBI-476431 I2D: score=2 STRING: ENSP00000351410
    UBE2MP610811, 3, ENSP000002530234EBI-1043552,EBI-1041660 I2D: score=2 STRING: ENSP00000253023
    ANXA7P200732, 3MINT-8248892 I2D: score=2 
    CDKN1AP389362, 3MINT-8252395 I2D: score=2 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006468protein phosphorylation IDA18616680
    GO:0033673negative regulation of kinase activity IDA18616680

    Find genes that share ontologies with NPRL2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for NPRL2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Brain natriuretic peptide (1-32) (human)Endogenous peptide agonist at ANP receptor A (NPR1)[124584-08-3]
    C-type natriuretic peptide (1-22) (human, rat, swine) Endogenous peptide agonist at NPR2[127869-51-6]
    Atrial natriuretic factor (1-28) (human, porcine) Endogenous peptide regulating blood pressure[91917-63-4]
    Atrial natriuretic factor (1-28) (rat)Endogenous peptide regulating blood pressure[88898-17-3]



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for NPRL2 gene: 
    NM_006545.4  

    Unigene Cluster for NPRL2:

    Nitrogen permease regulator-like 2 (S. cerevisiae)
    Hs.437083  [show with all ESTs]
    Unigene Representative Sequence: BC050412
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000476064 ENST00000487632 ENST00000461020 ENST00000467294 ENST00000232501(uc003daj.1)
    ENST00000429366 ENST00000480296 ENST00000451194 ENST00000493465 ENST00000479512
    ENST00000433381 ENST00000418825 ENST00000433999 ENST00000492805 ENST00000448302
    ENST00000469839 ENST00000493907
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate NPRL2:
    hsa-miR-203
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    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat NPRL2
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    GenScript: all cDNA clones in your preferred vector: NPRL2 (NM_006545)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NPRL2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPRL2
    Addgene plasmids for NPRL2 
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    OriGene qPCR primer pairs and template standards for NPRL2
    OriGene qSTAR qPCR primer pairs in human, mouse for NPRL2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NPRL2
      QuantiTect SYBR Green Assays in human, mouse, rat NPRL2
      QuantiFast Probe-based Assays in human, mouse, rat NPRL2

    Additional mRNA sequence: 

    AF040707.1 AF040708.1 AK098161.1 AK292196.1 AK309658.1 AL833426.1 BC008802.2 BC021984.1 
    BC050412.1 BC056861.1 BC063030.1 CR542035.1 

    22 DOTS entries:

    DT.100884953  DT.85105475  DT.95143047  DT.91842030  DT.316028  DT.101985533  DT.100884949  DT.120873157 
    DT.120872973  DT.120873149  DT.91806556  DT.120873216  DT.91774245  DT.100667977  DT.100884962  DT.95126412 
    DT.120873095  DT.91774242  DT.100884946  DT.100884950  DT.95143005  DT.95143039 

    Selected AceView cDNA sequences (see all 236):

    AI273260 BI914754 CB529321 BG119712 AL535578 AI338001 AW162723 BX281783 
    CA434577 AI264460 AU098734 AI285314 BM474122 AU131935 AI473741 BI766571 
    CB216711 BE549586 AA100151 AU103076 AA463393 AA352547 CR612107 BM992485 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NPRL2 (see all 17)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12
    SP1:                                      -           -           -     -           -                                                                     
    SP2:                                                  -           -     -           -                                                                     
    SP3:                                      -           -     -     -     -           -                                                                     
    SP4:                                                  -                             -                                                                     
    SP5:                                      -           -           -     -           -                                                                     


    ECgene alternative splicing isoforms for NPRL2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NPRL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCTGGATGA
    NPRL2 Expression
    About this image


    NPRL2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    NPRL2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NPRL2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.437083

    UniProtKB/Swiss-Prot: NPRL2_HUMAN, Q8WTW4
    Tissue specificity: Most abundant in skeletal muscle, followed by brain, liver and pancreas, with lower amounts in
    lung, kidney, placenta and heart. Expressed in most lung cancer cell lines tested

        Custom PCR Arrays for NPRL2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPRL2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for NPRL2 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nprl21 , 5 nitrogen permease regulator-like 2 (S. cerevisiae)5
    nitrogen permease regulator-like 21
    89.82(n)1
    98.42(a)1
      9 (58.12 cM)5
    560321  NM_018879.21  NP_061367.11 
     1075422095 
    chicken
    (Gallus gallus)
    Aves NPRL21 nitrogen permease regulator-like 2 (S. cerevisiae) 79.49(n)
    85.16(a)
      425132  XM_422923.3  XP_422923.3 
    lizard
    (Anolis carolinensis)
    Reptilia NPRL26
    nitrogen permease regulator-like 2 (S. cerevisiae)...
    89(a)
    1 ↔ 1
    2(150090887-150107728)
    African clawed frog
    (Xenopus laevis)
    Amphibia nprl2-pending-prov2 nitrogen permase homolog (S. cerevisiae) 76.28(n)    BC041229.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nprl21 nitrogen permease regulator-like 2 (S. cerevisiae) 72.56(n)
    82.32(a)
      559391  NM_001045847.2  NP_001039312.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG91041 CG9104 56.18(n)
    46.51(a)
      32677  NM_132946.3  NP_573174.1 
    worm
    (Caenorhabditis elegans)
    Secernentea nprl-21 nprl-2 43.95(n)
    29.36(a)
      177532  NM_068825.5  NP_501226.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NPR2(YEL062W)4
    NPR21
    Subunit of the conserved Npr2/3 complex that mediates more4
    NPR21
    46.03(n)1
    36.11(a)1
      5(34407-36254)4
    8566471, 4  NP_010852.41  NP_010852.24 


    ENSEMBL Gene Tree for NPRL2 (if available)
    TreeFam Gene Tree for NPRL2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NPRL2 (see all 43)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2000986451,2
    --50385361(+) GGTGAC/TGCCCT 1 -- int10--------
    rs1489533961,2
    C--50385367(+) GCCCTA/GGCCAG 1 -- int10--------
    rs2017279531,2
    --50385525(+) TAACTC/TCCAAA 1 -- int10--------
    rs2022354981,2
    --50385572(+) TGCTGC/TAGCTG 2 L syn10--------
    rs784914791,2
    C--50385603(+) GGTCTC/TGCACG 2 Q R mis11Minor allele frequency- T:0.00NA 4538
    rs340595321,2
    C--50385652(+) ATCCCC/GGAGAC 2 R G mis10--------
    rs1457298381,2
    C--50385700(+) CATCAA/TGTGGC 1 -- int10--------
    rs1417705111,2
    C,F--50385836(+) ACATTG/AGAGTA 2 /S syn11Minor allele frequency- A:0.00NA 4548
    rs22334841,2
    C,H--50385866(-) CAGGCC/ACCTAT 1 -- int19Minor allele frequency- A:0.00NA EA NS 764
    rs1930608641,2
    C--50385919(+) GCCACA/TTGATC 1 -- int10--------

    HapMap Linkage Disequilibrium report for NPRL2 (50384761 - 50388522 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for NPRL2:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv5132n71CNV Loss21882294
    nsv523662CNV Loss19592680
    nsv876770CNV Loss21882294
    dgv5131n71CNV Loss21882294
    nsv876769CNV Loss21882294
    nsv834692CNV Loss17160897
    nsv470561CNV Loss18288195
    nsv834693CNV Loss17160897
    nsv460531CNV Loss19166990

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NPRL2
    DNA2.0 Custom Variant and Variant Library Synthesis for NPRL2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607072    OMIM disorders: --

    UniProtKB/Swiss-Prot: NPRL2_HUMAN, Q8WTW4
  • Note=Inactivating mutations and truncating deletions in the genes encoding GATOR1 proteins, including
    NPRL2, are detected in glioblastoma and ovarian tumors and are associated with loss of heterozygosity events.
    Inactivation of GATOR1 proteins promotes constitutive localization of mTORC1 to the lysosomal membrane and blocks
    mTORC1 inactivation following amino acid withdrawal (PubMed:23723238)


  • Find genes that share disorders with NPRL2           About GenesLikeMe


    Export disorders for NPRL2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NPRL2 gene, integrated from 10 sources (see all 26):
    (articles sorted by number of sources associating them with NPRL2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The 630-kb lung cancer homozygous deletion region on human chromosome 3p21.3: identification and evaluation of the resident candidate tumor suppressor genes. (PubMed id 11085536)1, 2, 3 Lerman M.I. and Minna J.D. (Cancer Res. 2000)
    2. TUSC4/NPRL2, a novel PDK1-interacting protein, inhibits PDK1 tyrosine phosphorylation and its downstream signaling. (PubMed id 18616680)1, 2, 9 Kurata A.... Fujita N. (Cancer Sci. 2008)
    3. A genome-wide screen for regulators of TORC1 in response to amino acid starvation reveals a conserved Npr2/3 complex. (PubMed id 19521502)1, 2 Neklesa T.K. and Davis R.W. (PLoS Genet. 2009)
    4. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)1, 2 Muzny D.M....Gibbs R.A. (Nature 2006)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Expression of several genes in the human chromosome 3p21.3 homozygous deletion region by an adenovirus vector results in tumor suppressor activities in vitro and in vivo. (PubMed id 11980673)1, 2 Ji L....Minna J.D. (Cancer Res. 2002)
    8. Simultaneous down-regulation of tumor suppressor genes RBSP3/CTDSPL, NPRL2/G21 and RASSF1A in primary non-small cell lung cancer. (PubMed id 20193080)1, 9 Senchenko V.N....Zabarovsky E.R. (BMC Cancer 2010)
    9. A Tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1. (PubMed id 23723238)2 Bar-Peled L....Sabatini D.M. (Science 2013)
    10. Quantitative analysis of HSP90-client interactions reveals principles of substrate recognition. (PubMed id 22939624)1 Taipale M....Lindquist S. (Cell 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10641 HGNC: 24969 AceView: TUSC4 Ensembl:ENSG00000114388 euGenes: HUgn10641
    ECgene: NPRL2 H-InvDB: NPRL2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NPRL2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NPRL2 gene:
    Search GeneIP for patents involving NPRL2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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