Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10641
Gene name Gene Name - the full gene name approved by the HGNC.	NPR2 like, GATOR1 complex subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NPRL2
Synonyms (NCBI Gene) Gene synonyms aliases	FFEVF2, NPR2, NPR2L, TUSC4
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3p21.31

Show/Hide all(1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs886037964	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant

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
MIRT2284392	hsa-miR-3908	CLIP-seq
MIRT2582344	hsa-miR-3120-3p	CLIP-seq
MIRT2582345	hsa-miR-3126-5p	CLIP-seq
MIRT2582346	hsa-miR-325	CLIP-seq
MIRT2582347	hsa-miR-3657	CLIP-seq
MIRT2284392	hsa-miR-3908	CLIP-seq
MIRT2582348	hsa-miR-4266	CLIP-seq
MIRT2582349	hsa-miR-4669	CLIP-seq
MIRT2582350	hsa-miR-4695-5p	CLIP-seq
MIRT2582351	hsa-miR-4779	CLIP-seq

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
GO:0005765	Component	Lysosomal membrane	IDA	28199306
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	NAS	23723238
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005774	Component	Vacuolar membrane	IBA
GO:0010508	Process	Positive regulation of autophagy	IBA
GO:0016020	Component	Membrane	IEA
GO:0031669	Process	Cellular response to nutrient levels	IDA	29236692, 29750193, 31601708, 31601764
GO:0033673	Process	Negative regulation of kinase activity	IDA	18616680
GO:0034198	Process	Cellular response to amino acid starvation	IBA
GO:0034198	Process	Cellular response to amino acid starvation	IDA	29590090, 30651352, 35338845
GO:0034198	Process	Cellular response to amino acid starvation	IEA
GO:0034198	Process	Cellular response to amino acid starvation	IMP	23723238
GO:0038202	Process	TORC1 signaling	IDA	12087098, 29750193, 38006878
GO:0045947	Process	Negative regulation of translational initiation	IDA	22578813
GO:0045948	Process	Positive regulation of translational initiation	IDA	1922062, 29750193
GO:0061431	Process	Cellular response to methionine	IDA	38006878
GO:0061462	Process	Protein localization to lysosome	IDA	31601708
GO:1904262	Process	Negative regulation of TORC1 signaling	IBA
GO:1904262	Process	Negative regulation of TORC1 signaling	IDA	29590090, 30651352, 35338845
GO:1904262	Process	Negative regulation of TORC1 signaling	IEA
GO:1904262	Process	Negative regulation of TORC1 signaling	NAS	23723238
GO:1904263	Process	Positive regulation of TORC1 signaling	IDA	29236692, 31601708, 31601764
GO:1990130	Component	GATOR1 complex	IBA
GO:1990130	Component	GATOR1 complex	IDA	29590090, 35338845
GO:1990130	Component	GATOR1 complex	IPI	25263562

MIM	HGNC	e!Ensembl
607072	24969	ENSG00000114388

Protein

UniProt ID

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

MGSGCRIECIFFSEFHPTLGPKITYQVPEDFISRELFDTVQVYIITKPELQNKLITVTAM
EKKLIGCPVCIEHKKYSRNALLFNLGFVCDAQAKTCALEPIVKKLAGYLTTLELESSFVS
MEESKQKLVPIMTILLEELNASGRCTLPIDESNTIHLKVIEQRPDPPVAQEYDVPVFTKD
KEDFFNSQWDLTTQQILPYIDGFRHIQKISAEADVELNLVRIAIQNLLYYGVVTLVSILQ
YSNVYCPTPKVQDLVDDKSLQEACLSYVTKQGHKRASLRDVFQLYCSLSPGTTVRDLIGR
HPQQLQHVDERKLIQFGLMKNLIRRLQKYPVRVTREEQSHPARLYTGCHSYDEICCKTGM
SYHELDERLENDPNIIICWK

Sequence length

380

Interactions

View interactions

	KEGG		Reactome
	mTOR signaling pathway		Amino acids regulate mTORC1

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Epilepsy	epilepsy, familial focal, with variable foci 2	rs886037965, rs886037966, rs1575562076	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
seizure	Seizure	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma	Associate	26112163
Adenoma	Inhibit	24521741
Breast Neoplasms	Associate	22139571
Carcinoma Non Small Cell Lung	Inhibit	20193080
Carcinoma Non Small Cell Lung	Associate	26112163
Carcinoma Renal Cell	Associate	24789683
Carcinoma Squamous Cell	Inhibit	20193080
Colorectal Neoplasms	Associate	24521741, 29519997
Colorectal Neoplasms	Inhibit	26044952
Glioblastoma	Associate	30651352
Kidney Neoplasms	Inhibit	24789683
Lung Neoplasms	Inhibit	20193080
Lung Neoplasms	Associate	26112163
Lymphatic Metastasis	Associate	24789683
Neoplasms	Inhibit	20193080, 22139571, 23321467, 24521741, 24789683, 26044952, 29127423
Nocturnal Paroxysmal Dystonia	Associate	31835056
Osteochondroma	Associate	23321467
Osteosarcoma	Associate	23321467

NPRL2 (NPR2 like, GATOR1 complex subunit)