Aliases for NPRL2 Gene
Aliases for NPRL2 Gene
External Ids for NPRL2 Gene
- HGNC: 24969
- Entrez Gene: 10641
- Ensembl: ENSG00000114388
- OMIM: 607072
- UniProtKB: Q8WTW4
Previous HGNC Symbols for NPRL2 Gene
- TUSC4
Summaries for NPRL2 Gene
GeneCards Summary for NPRL2 Gene
NPRL2 (NPR2 Like, GATOR1 Complex Subunit) is a Protein Coding gene. Diseases associated with NPRL2 include Epilepsy, Familial Focal, With Variable Foci 2 and Epilepsy, Familial Focal, With Variable Foci 1. Among its related pathways are PI3K / Akt Signaling and mTOR signaling pathway (KEGG). Gene Ontology (GO) annotations related to this gene include protein kinase activity and GTPase activator activity.
UniProtKB/Swiss-Prot for NPRL2 Gene
-
As a component of the GATOR1 complex functions as an 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. The GATOR1 complex is negatively regulated by GATOR2 the other GATOR subcomplex in this amino acid-sensing branch of the TORC1 pathway.
-
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.
Additional gene information for NPRL2 Gene
- Monarch Initiative
- Search for NPRL2 at DataMed
- Search for NPRL2 at HumanCyc
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NPRL2 Gene
Genomics for NPRL2 Gene
GeneHancer (GH) Regulatory Elements for NPRL2 Gene
Promoters and enhancers for NPRL2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around NPRL2 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for NPRL2 Gene
Genomic Locations for NPRL2 Gene
- chr3:50,347,330-50,351,091
- (GRCh38/hg38)
- Size:
- 3,762 bases
- Orientation:
- Minus strand
- chr3:50,384,761-50,388,522
- (GRCh37/hg19)
Genomic View for NPRL2 Gene
Genes around NPRL2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3p21.31 by Ensembl
- 3p21.31 by Entrez Gene
- 3p21.31 by HGNC
NPRL2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for NPRL2 Gene
Proteins for NPRL2 Gene
-
Protein details for NPRL2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8WTW4-NPRL2_HUMAN
- Recommended name:
- GATOR complex protein NPRL2
- Protein Accession:
- Q8WTW4
- A8K831
- Q6FGS2
- Q9Y249
- Q9Y497
Protein attributes for NPRL2 Gene
- Size:
- 380 amino acids
- Molecular mass:
- 43658 Da
- Quaternary structure:
-
- 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.
Protein Expression for NPRL2 Gene
Post-translational modifications for NPRL2 Gene
No Post-translational modifications
Other Protein References for NPRL2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Cell Signaling Technology (CST) Antibodies for NPRL2 (NPRL2)
- Novus Biologicals Antibodies for NPRL2
-
Abcam antibodies for NPRL2
- Invitrogen Antibodies for NPRL2
- Search GeneTex for Antibodies for NPRL2
-
Santa Cruz Biotechnology (SCBT) Antibodies for NPRL2
Protein Products
-
OriGene Purified Proteins for NPRL2
- Search Origene for MassSpec and Protein Over-expression Lysates for NPRL2
- Origene Custom Protein Services for NPRL2
- antibodies-online: Search results for 4 available NPRL2 Proteins ranked by validation data
- Compare Top NPRL2 Proteins
-
Quality Products:
- Search GeneTex for Proteins for NPRL2
-
Abcam proteins for NPRL2
Assay Products
No data available for DME Specific Peptides for NPRL2 Gene
Domains & Families for NPRL2 Gene
Gene Families for NPRL2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for NPRL2 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for NPRL2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8WTW4- Family:
-
- Belongs to the NPR2 family.
Function for NPRL2 Gene
Molecular function for NPRL2 Gene
- UniProtKB/Swiss-Prot Function:
- As a component of the GATOR1 complex functions as an 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. The GATOR1 complex is negatively regulated by GATOR2 the other GATOR subcomplex in this amino acid-sensing branch of the TORC1 pathway.
- UniProtKB/Swiss-Prot 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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004672 | protein kinase activity | IDA | 18616680 |
| GO:0005096 | contributes_to GTPase activator activity | IDA | 23723238 |
| GO:0005515 | protein binding | IPI | 18616680 |
Phenotypes for NPRL2 Gene
- MGI mutant phenotypes for NPRL2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for NPRL2:
Animal Models for NPRL2 Gene
- MGI Knock Outs for NPRL2:
-
- Nprl2 tm1.2Bpt
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for NPRL2
-
-
ViGene Biosciences lentiviral particle packaged cDNA for NPRL2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for NPRL2 gene
- Search ViGene Biosciences for NPRL2
CRISPR Products
-
OriGene CRISPR knockouts for NPRL2
- genomics-online: gRNA clones - Search results for 112 available NPRL2 gene related products
- Overview of 112 available NPRL2 gene related products
- Applied Biological Materials CRISPR for NPRL2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for NPRL2
- GenScript: Design CRISPR guide RNA sequences for NPRL2
miRNA for NPRL2 Gene
- miRTarBase miRNAs that target NPRL2
miRNA Products
- Search ViGene Biosciences for NPRL2
Inhibitory RNA Products
- Origene shrna, RNAi, and sirna products in human, mouse, rat for NPRL2
- Browse OriGene Inhibitory RNA Products For NPRL2
- genomics-online: shRNA clones - Search results for 112 available NPRL2 gene related products
- Overview of 112 available NPRL2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for NPRL2 gene
Clone Products
- Sino Biological Human cDNA Clone for NPRL2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for NPRL2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for NPRL2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for NPRL2
- Applied Biological Materials Clones for NPRL2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for NPRL2
-
ViGene Biosciences adenoviral particle packaged cDNA for NPRL2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for NPRL2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for NPRL2 gene
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for NPRL2 Gene
Localization for NPRL2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for NPRL2 Gene
- Lysosome membrane. Note=Localization to lysosomes is amino acid-independent. {ECO:0000269 PubMed:28199306}.
| Compartment | Confidence |
|---|---|
| lysosome | 5 |
| cytosol | 4 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| nucleus | 2 |
- Cytosol (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005764 | lysosome | IEA | -- |
| GO:0005765 | lysosomal membrane | IEA,IDA | 28199306 |
| GO:0016020 | membrane | IEA | -- |
| GO:1990130 | GATOR1 complex | IDA | 23723238 |
Pathways & Interactions for NPRL2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | mTOR signaling pathway (KEGG) | ||
| 2 | PI3K / Akt Signaling | ||
Pathways by source for NPRL2 Gene
1 Cell Signaling Technology pathway for NPRL2 Gene
1 KEGG pathway for NPRL2 Gene
Interacting Proteins for NPRL2 Gene
Selected Interacting proteins:
Q8WTW4-NPRL2_HUMAN
ENSP00000232501
for NPRL2 Gene via
MINT
IID
STRING
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006468 | protein phosphorylation | IEA | -- |
| GO:0006995 | cellular response to nitrogen starvation | IBA | -- |
| GO:0010508 | positive regulation of autophagy | IBA | -- |
| GO:0032007 | negative regulation of TOR signaling | IMP | 23723238 |
| GO:0033673 | negative regulation of kinase activity | IDA | 18616680 |
No data available for SIGNOR curated interactions for NPRL2 Gene
Transcripts for NPRL2 Gene
mRNA/cDNA for NPRL2 Gene
- (5) REFSEQ mRNAs :
- (12) Additional mRNA sequences :
- (236) Selected AceView cDNA sequences:
- (17) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for NPRL2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for NPRL2
- genomics-online: gRNA clones - Search results for 112 available NPRL2 gene related products
- Overview of 112 available NPRL2 gene related products
- Applied Biological Materials CRISPR for NPRL2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for NPRL2
- GenScript: Design CRISPR guide RNA sequences for NPRL2
miRNA Products
- Search ViGene Biosciences for NPRL2
Inhibitory RNA Products
- Origene shrna, RNAi, and sirna products in human, mouse, rat for NPRL2
- Browse OriGene Inhibitory RNA Products For NPRL2
- genomics-online: shRNA clones - Search results for 112 available NPRL2 gene related products
- Overview of 112 available NPRL2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for NPRL2 gene
Clone Products
- Sino Biological Human cDNA Clone for NPRL2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for NPRL2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for NPRL2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for NPRL2
- Applied Biological Materials Clones for NPRL2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
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| SP10: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
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| SP13: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP16: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP17: |
Expression for NPRL2 Gene
This gene is overexpressed in Placenta (15.0), Frontal cortex (13.5), Blymphocyte (12.9), Testis (9.7), and Ovary (6.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NPRL2 Gene
NURSA nuclear receptor signaling pathways regulating expression of NPRL2 Gene:
NPRL2SOURCE GeneReport for Unigene cluster for NPRL2 Gene:
Hs.437083mRNA Expression by UniProt/SwissProt for NPRL2 Gene:
Q8WTW4-NPRL2_HUMAN
Tissue specificity:
Most abundant in skeletal muscle, followed by brain, liver and pancreas, with lower amounts in lung, kidney, placenta and heart. Expressed in the frontal lobe cortex as well as in the temporal, parietal, and occipital lobes (PubMed:27173016, PubMed:26505888). Expressed in most lung cancer cell lines tested.
Evidence on tissue expression from TISSUES for NPRL2 Gene
- Intestine(4.4)
- Kidney(4.2)
- Skin(4.2)
- Nervous system(4)
Primer Products
-
OriGene qPCR primer pairs and template standards for NPRL2
-
OriGene qPCR primer pairs for NPRL2
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NPRL2 Gene
Orthologs for NPRL2 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | NPRL2 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | NPRL2 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | NPRL2 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | NPRL2 33 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | NPRL2 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Nprl2 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Nprl2 33 |
|
||
| chicken (Gallus gallus) |
Aves | NPRL2 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | NPRL2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | nprl2 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | nprl2-pending-prov 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | nprl2 33 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG9104 33 34 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000438 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | nprl-2 33 34 |
|
||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_ACR009W 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | NPR2 33 34 36 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D01067g 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne | |
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | npr2 33 |
|
- Species where no ortholog for NPRL2 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for NPRL2 Gene
No data available for Paralogs for NPRL2 Gene
Variants for NPRL2 Gene
| SNP ID | Clin | Chr 03 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs149128231 | Epilepsy, familial focal, with variable foci 2 (FFEVF2) [MIM:617116] | 50,348,728(-) | C/G | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs745518585 | Epilepsy, familial focal, with variable foci 2 (FFEVF2) [MIM:617116] | 50,348,775(-) | G/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs886037963 | pathogenic, Epilepsy, familial focal, with variable foci 2 | 50,350,001(-) | G/A | 5_prime_UTR_variant, coding_sequence_variant, non_coding_transcript_variant, stop_gained, synonymous_variant | |
| rs886037964 | pathogenic, Epilepsy, familial focal, with variable foci 2 | 50,348,173(-) | G/A | coding_sequence_variant, non_coding_transcript_variant, stop_gained | |
| rs886037965 | pathogenic, Epilepsy, familial focal, with variable foci 2, Epilepsy, familial focal, with variable foci 2 (FFEVF2) [MIM:617116] | 50,349,690(-) | A/G | 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv8317n54 | CNV | loss | 21841781 |
| esv3584502 | CNV | gain | 24956385 |
| nsv460531 | CNV | loss | 19166990 |
| nsv470561 | CNV | loss | 18288195 |
| nsv473620 | CNV | novel sequence insertion | 20440878 |
| nsv523662 | CNV | loss | 19592680 |
| nsv590255 | CNV | loss | 21841781 |
| nsv834692 | CNV | loss | 17160897 |
| nsv834693 | CNV | loss | 17160897 |
| nsv954855 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
15.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.43;
9.50% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for NPRL2 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NPRL2 Gene
Disorders for NPRL2 Gene
(4) MalaCards diseases for NPRL2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| epilepsy, familial focal, with variable foci 2 |
|
|
| epilepsy, familial focal, with variable foci 1 |
|
|
| focal epilepsy |
|
|
| lung cancer |
|
|
Search NPRL2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
NPRL2_HUMAN- Epilepsy, familial focal, with variable foci 2 (FFEVF2) [MIM:617116]: An autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy, frontal lobe epilepsy, and nocturnal frontal lobe epilepsy. Some patients may have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. A subset of patients have structural brain abnormalities. Penetrance of the disorder is incomplete. {ECO:0000269 PubMed:26505888, ECO:0000269 PubMed:27173016}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- 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). {ECO:0000269 PubMed:23723238}.
Additional Disease Information for NPRL2
No data available for Genatlas for NPRL2 Gene
Publications for NPRL2 Gene
- TUSC4/NPRL2, a novel PDK1-interacting protein, inhibits PDK1 tyrosine phosphorylation and its downstream signaling. (PMID: 18616680) Kurata A … Fujita N (Cancer science 2008) 2 3 4 22 58
- A Tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1. (PMID: 23723238) Bar-Peled L … Sabatini DM (Science (New York, N.Y.) 2013) 2 3 4 58
- KICSTOR recruits GATOR1 to the lysosome and is necessary for nutrients to regulate mTORC1. (PMID: 28199306) Wolfson RL … Sabatini DM (Nature 2017) 3 4 58
- Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. (PMID: 26505888) Ricos MG … Dibbens LM (Annals of neurology 2016) 3 4 58
- Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia. (PMID: 27173016) Weckhuysen S … Baulac S (Epilepsia 2016) 3 4 58
Products for NPRL2 Gene
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- Novus Biologicals Antibodies for NPRL2
- Novus Biologicals lysates and proteins for NPRL2
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- Novus Biologicals Tissue Microarrays
- Abcam antibodies for NPRL2
- Abcam proteins for NPRL2
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- Cloud-Clone Corp. disease models service
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- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for NPRL2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Cyagen custom Knockout/knockin (KOKI) mouse models for NPRL2
- VectorBuilder custom plasmid, inducible vectors for NPRL2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for NPRL2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for NPRL2
- antibodies-online: Search results for 81 available NPRL2 Antibodies ranked by validation data
- Compare Top NPRL2 Antibodies
- antibodies-online: Search results for available NPRL2 related products ranked by validation data
- antibodies-online: Search results for 4 available NPRL2 Proteins ranked by validation data
- Compare Top NPRL2 Proteins
- Quality Products:
- Search GeneTex for Antibodies for NPRL2
- Search GeneTex for Proteins for NPRL2
- ViGene Biosciences adenoviral particle packaged cDNA for NPRL2 gene
- ViGene Biosciences lentiviral particle packaged cDNA for NPRL2 gene
- ViGene Biosciences ready-to-package AAV shRNAs for NPRL2 gene
- Search ViGene Biosciences for NPRL2
- Santa Cruz Biotechnology (SCBT) Antibodies for NPRL2
- Search Santa Cruz Biotechnology (SCBT) for NPRL2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for NPRL2
- Horizon Cell Lines for NPRL2
- genomics-online: cdna clones - Search results for 112 available NPRL2 gene related products
- Overview of 112 available NPRL2 gene related products
- orf clones - Search results for 112 available NPRL2 gene related products
- Overview of 112 available NPRL2 gene related products
- genomics-online: gRNA clones - Search results for 112 available NPRL2 gene related products
- Overview of 112 available NPRL2 gene related products
- genomics-online: primer clones - Search results for 112 available NPRL2 gene related products
- Overview of 112 available NPRL2 gene related products
- genomics-online: shRNA clones - Search results for 112 available NPRL2 gene related products
- Overview of 112 available NPRL2 gene related products
Sources for NPRL2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew