NPRL2 (NPR2 like, GATOR1 complex subunit)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 10641
Gene name NPR2 like, GATOR1 complex subunit
Gene symbol NPRL2
Synonyms (NCBI Gene)
FFEVF2NPR2NPR2LTUSC4
Chromosome 3
Chromosome location 3p21.31
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs886037964 G>A Pathogenic Stop gained, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
15
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (15)
miRTarBase ID miRNA Experiments Reference
MIRT029030 hsa-miR-26b-5p Microarray 19088304
MIRT2055398 hsa-miR-144 CLIP-seq
MIRT2055399 hsa-miR-425 CLIP-seq
MIRT2055400 hsa-miR-4305 CLIP-seq
MIRT2055401 hsa-miR-4645-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (31)
GO ID Ontology Definition Evidence Reference
GO:0002181 Process Cytoplasmic translation IDA 8706699, 34314702
GO:0005096 Function GTPase activator activity IDA 30651352, 35338845
GO:0005096 Function GTPase activator activity IEA
GO:0005515 Function Protein binding IPI 18616680, 19521502, 28199315, 28514442, 33961781
GO:0005764 Component Lysosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607072 24969 ENSG00000114388
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WTW4
Protein name GATOR1 complex protein NPRL2 (Gene 21 protein) (G21 protein) (Nitrogen permease regulator 2-like protein) (NPR2-like protein) (Tumor suppressor candidate 4)
Protein function Catalytic component of the GATOR1 complex, a multiprotein complex that functions as an inhibitor of the amino acid-sensing branch of the mTORC1 pathway (PubMed:23723238, PubMed:29590090, PubMed:35338845, PubMed:38006878). In response to amino ac
PDB 6CES , 6CET , 7T3A , 7T3B , 7T3C , 8FW5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06218 NPR2 5 → 279 Nitrogen permease regulator 2 Family
PF06218 NPR2 269 → 373 Nitrogen permease regulator 2 Family
Tissue specificity 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:265
Sequence
Sequence length 380
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  mTOR signaling pathway   Amino acids regulate mTORC1
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Epilepsy, familial focal, with variable foci 2 Likely pathogenic; Pathogenic rs2109364484, rs2109370013, rs2109365845, rs886037964, rs886037965, rs886037966, rs1559857717, rs1575562076, rs1703652698, rs1703621639 RCV001724745
RCV003994384
RCV002266638
RCV000241491
RCV000241152
View all (5 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial focal epilepsy with variable foci Likely pathogenic rs2470932402 RCV003154831
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neonatal respiratory distress Likely pathogenic rs2109368530 RCV001526644
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NPRL2-related disorder Likely pathogenic rs2470936665 RCV003921634
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (7)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
EPILEPSIES, PARTIAL — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EPILEPSY, PARTIAL, WITH VARIABLE FOCI — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FOCAL EPILEPSY — ClinGen, GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (135)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Achondroplasia Achondroplasia BEFREE 22645228
★★★★★
★☆☆☆☆
Found in Text Mining only
Acromesomelic dysplasia Acromesomelic dysplasia Pubtator 22691581, 29322508, 34565054, 35455946 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Acromesomelic dysplasia Hunter-Thompson type Acromesomelic dysplasia BEFREE 15146390, 18945719, 22691581, 24259409, 24471569, 25196103, 26567084, 26926249, 29322508, 30016695, 30359775
★★★★★
★☆☆☆☆
Found in Text Mining only
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE Acromesomelic dysplasia UNIPROT_DG 15146390, 17652215, 26980729
★★★★★
★☆☆☆☆
Found in Text Mining only
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE Acromesomelic dysplasia ORPHANET_DG 15146390, 22691581
★★★★★
★☆☆☆☆
Found in Text Mining only
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE Acromesomelic dysplasia CLINVAR_DG 15146390, 23065701
★★★★★
★☆☆☆☆
Found in Text Mining only
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE Acromesomelic dysplasia BEFREE 16384845, 23065701, 25959430, 30359775, 31077548
★★★★★
★☆☆☆☆
Found in Text Mining only
Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia Orphanet
★★★★★
★☆☆☆☆
Found in Text Mining only
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE Acromesomelic dysplasia GENOMICS_ENGLAND_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE Acromesomelic dysplasia CTD_human_DG
★★★★★
★☆☆☆☆
Found in Text Mining only