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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)

See related diseases
at

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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. Diseases associated with NPRL2 include nephrotic syndrome, and lung cancer. 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:

NC_000003.12 NT_022517.19 NC_018914.2

Regulatory elements:

Search for regulatory transcription factor binding sites for NPRL2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NPRL2 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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:

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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.

NPRL2 Antibody Products:

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	LSBio Antibodies in human, mouse, rat for NPRL2

NPRL2 Assay Products:

	Browse Kits and Assays available from EMD Millipore
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	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs at Cloud-Clone Corp. Browse CLIAs at Cloud-Clone Corp.

(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

NPRL2 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, 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 ID	Qualified GO term	Evidence	PubMed IDs
GO:0004672	protein kinase activity	IDA	18616680
GO:0005096	GTPase activator activity	IEA	--
GO:0005515	protein binding	IPI	18616680

NPRL2 for ontologies About GeneDecksing

Animal Models:

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NPRL2

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NPRL2

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NPRL2

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NPRL2

miRNA Products:		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

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for NPRL2
		Predesigned siRNA for gene silencing in human, mouse, rat NPRL2

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for NPRL2

Clone Products:		OriGene clones in human, mouse for NPRL2 (see all 8) OriGene ORF clones in mouse, rat for NPRL2 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		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

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for NPRL2
		Browse ESI BIO Cell Lines and PureStem Progenitors for NPRL2

In Situ Assay
Products:

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:

Compartment	Confidence
cytosol	4
nucleus	2

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	--	--

NPRL2 for ontologies About GeneDecksing

(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 (Q8WTW4^{1, 2, 3} ENSP00000232501⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 59)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NPRL3	Q12980¹^,³, ENSP00000382834⁴	EBI-1043552,EBI-2650314 I2D: score=2 STRING: ENSP00000382834
PRKAR1A	P10644¹^,³, ENSP00000351410⁴	EBI-1043552,EBI-476431 I2D: score=2 STRING: ENSP00000351410
UBE2M	P61081¹^,³, ENSP00000253023⁴	EBI-1043552,EBI-1041660 I2D: score=2 STRING: ENSP00000253023
ANXA7	P20073²^,³	MINT-8248892 I2D: score=2
CDKN1A	P38936²^,³	MINT-8252395 I2D: score=2

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006468	protein phosphorylation	IDA	18616680
GO:0033673	negative regulation of kinase activity	IDA	18616680

NPRL2 for ontologies About GeneDecksing

(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

Compound	Action	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,
Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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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 Products:		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

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for NPRL2
		Predesigned siRNA for gene silencing in human, mouse, rat NPRL2

Clone Products:		OriGene clones in human, mouse for NPRL2 (see all 8) OriGene ORF clones in mouse, rat for NPRL2 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		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

Primer Products:		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

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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		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

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	Nprl2^{1 , 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 856647^{1, 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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SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs200098645^1,2		--	50385361(+)	`GGTGAC/TGCCCT`	1	--	int¹		0	--	--	--	--
rs148953396^1,2	C	--	50385367(+)	`GCCCTA/GGCCAG`	1	--	int¹		0	--	--	--	--
rs201727953^1,2		--	50385525(+)	`TAACTC/TCCAAA`	1	--	int¹		0	--	--	--	--
rs202235498^1,2		--	50385572(+)	`TGCTGC/TAGCTG`	2	L	syn¹		0	--	--	--	--
rs78491479^1,2	C	--	50385603(+)	`GGTCTC/TGCACG`	2	Q R	mis¹		1		NA	4538
rs34059532^1,2	C	--	50385652(+)	`ATCCCC/GGAGAC`	2	R G	mis¹		0	--	--	--	--
rs145729838^1,2	C	--	50385700(+)	`CATCAA/TGTGGC`	1	--	int¹		0	--	--	--	--
rs141770511^1,2	C,F	--	50385836(+)	`ACATTG/AGAGTA`	2	/S	syn¹		1		NA	4548
rs2233484^1,2	C,H	--	50385866(-)	`CAGGCC/ACCTAT`	1	--	int¹		9		NA EA NS	764
rs193060864^1,2	C	--	50385919(+)	`GCCACA/TTGATC`	1	--	int¹		0	--	--	--	--

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

Structural Variations
Database of Genomic Variants (DGV) 9 variations for NPRL2: About this table

Variant ID	Type	Subtype	PubMed ID
dgv5132n71	CNV	Loss	21882294
nsv523662	CNV	Loss	19592680
nsv876770	CNV	Loss	21882294
dgv5131n71	CNV	Loss	21882294
nsv876769	CNV	Loss	21882294
nsv834692	CNV	Loss	17160897
nsv470561	CNV	Loss	18288195
nsv834693	CNV	Loss	17160897
nsv460531	CNV	Loss	19166990

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, 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)

6 diseases for NPRL2:
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nephrotic syndrome lung cancer schizophrenia osteosarcoma

malaria hepatocellular carcinoma

NPRL2 for disorders About GeneDecksing

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)

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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)
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)
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)
The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)^{1, 2} Muzny D.M....Gibbs R.A. (Nature 2006)
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)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
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)
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)
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)
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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		AND	OR
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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Name	Description
PharmGKB entry for NPRL2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for NPRL2 gene
(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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NPRL2 Gene

Nitrogen Permease Regulator-Like 2 (S. Cerevisiae)

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NPRL2 Gene

Nitrogen Permease Regulator-Like 2 (S. Cerevisiae)

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