NPRL2 - NPR2 like, GATOR1 complex subunit Gene

Homo sapiens

Also known as NPR2; NPR2L; TUSC4; FFEVF2

Gene ID: 10641 | Gene type: protein coding

About NPRL2

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:50,347,330-50,350,775 (from NCBI)

This gene has 20 transcripts (splice variants), 200 orthologues and is associated with 2 phenotypes. Ubiquitous expression in lymph node (RPKM 7.6), ovary (RPKM 7.3) and 25 other tissues.

Summary

Enables protein kinase activity. Contributes to GTPase activator activity. Involved in cellular response to amino acid starvation; negative regulation of TOR signaling; and negative regulation of kinase activity. Located in lysosomal membrane. Part of GATOR1 complex. Implicated in focal epilepsy. [provided by Alliance of Genome Resources, Apr 2022]

NPRL2 Products(1)

mRNA	Protein	Name
NM_006545.5	NP_006536.3	GATOR complex protein NPRL2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables GTPase activator activity	IDA IDA: Inferred from direct assay	30651352	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18616680	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cellular response to amino acid starvation	IDA IDA: Inferred from direct assay	29590090	GOA
involved in cellular response to amino acid starvation	IMP IMP: Inferred from mutant phenotype	23723238	GOA
involved in negative regulation of TORC1 signaling	IDA IDA: Inferred from direct assay	29590090	GOA
involved in negative regulation of kinase activity	IDA IDA: Inferred from direct assay	18616680	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of GATOR1 complex	IDA IDA: Inferred from direct assay	29590090	GOA
part of GATOR1 complex	IPI IPI: Inferred from physical interaction	25263562	GOA
is active in lysosomal membrane	IDA IDA: Inferred from direct assay	28199306	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NPRL2 Protein Structure

NPR2

0
100
200
300
380 a.a.

Protein Preferred Names

Protein Names

GATOR complex protein NPRL2

2810446G01Rik

NPRL2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	NPRL2	Q8WTW4	NPRL3	Homo sapiens	Q12980	GMS	28199315
Intra	NPRL2	Q8WTW4	NPRL3	Homo sapiens	Q12980	Anti Tag CoIP	28514442
Intra	NPRL2	Q8WTW4	NPRL3	Homo sapiens	Q12980	Anti Tag CoIP	33961781
Intra	NPRL2	Q8WTW4	NPRL3	Homo sapiens	Q12980	Anti Tag CoIP	19521502
Intra	NPRL2	Q8WTW4	NPRL3	Homo sapiens	Q12980	Density Sedimentation	28199315

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Epilepsy, Familial Focal, With Variable Foci 2

FFEVF2

Epilepsy, Familial Focal, With Variable Foci 1

Ffevf	Familial Focal Epilepsy With Variable Foci
Epilepsy, Partial, With Variable Foci	Familial Partial Epilepsy With Variable Foci
FFEVF1	Fpevf
Partial Epilepsy With Variable Foci	Epilepsy, Familial Focal, With Variable Foci
Epilepsy, Familial Focal, With Variable Foci, Type 1

Newborn Respiratory Distress Syndrome

Hyaline Membrane Disease	Respiratory Distress Syndrome Of Newborn
Neonatal Respiratory Distress	Hmd - Hyaline Membrane Disease
Neonatal Respiratory Distress Syndrome	Pulmonary Hyaline Membrane Disease
Pulmonary Hypoperfusion Syndrome Of Newborn	Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome	Cardiorespiratory Distress Syndrome Of Newborn
Distress Respiratory Syndrome Newborn	Idiopathic Respiratory Distress Syndrome
Idiopathic Respiratory Distress Syndrome Of Newborn	Newborn Idiopathic Respiratory Distress Syndrome
Respiratory Distress Syndrome In Newborn	Rds - [Respiratory Distress Syndrome] Of Newborn
Newborn Cardiorespiratory Distress Syndrome

Focal Epilepsy

Partial Epilepsy	Epilepsies, Partial
Localisation-Related Epilepsy

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Schizophrenia 13

SCZD13	Schizophrenia Susceptibility Locus, Chromosome 15q13-Q14-Related
Schizophrenia, Susceptibility To, 13

Corneal Dystrophy, Fleck

Fleck Corneal Dystrophy	Fcd
CFD	Corneal Fleck Dystrophy
Francois-Neetens Speckled Corneal Dystrophy	Corneal Dystrophy, Francois-Neetens Speckled Or Flecked
Corneal Dystrophy Francois-Neetens Speckled Or Flecked	Dystrophy, Corneal, Fleck

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Adnfle	Autosomal Dominant Sleep-Related Hypermotor Epilepsy
Enfl	Benign Familial Infantile Seizures 6
Benign Familial Infantile Seizures, 6	Nocturnal Frontal Lobe Epilepsy-4
Enfl1	Epilepsy, Nocturnal Frontal Lobe, 1
Epilepsy, Nocturnal Frontal Lobe, Type 1

Lung Cancer

Lung Carcinoma	Non-Small Cell Lung Carcinoma
Lung Cancer, Susceptibility To	Lung Cancer, Protection Against
Adenocarcinoma Of Lung, Somatic	Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In
Nonsmall Cell Lung Cancer	Lung Neoplasm
Carcinoma Of Lung	Lung Non-Small Cell Carcinoma
Non-Small Cell Lung Cancer	Nsclc
Lung Neoplasms	Malignant Neoplasm Of Lung
Alveolar Cell Carcinoma	Nonsmall Cell Lung Cancer, Somatic
Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In	Nonsmall Cell Lung Cancer, Susceptibility To
Lung Cancer, Somatic	Lung Cancer, Resistance To
Cancer Of Lung	Cancer Of Bronchus
Cancer Of The Lung	Lung Malignancies
Lung Malignant Tumors	Malignant Lung Tumor
Malignant Tumor Of Lung	Pulmonary Cancer
Pulmonary Carcinoma	Pulmonary Neoplasms
Respiratory Carcinoma	LNCR
Adenocarcinoma Of Lung	Neoplasm Of Lung
Cancer Lung	Carcinoma Non-Small Cell Lung
Carcinoma, Non-Small-Cell Lung	Lung Cancers
Lung Carcinomas	Cancer, Lung
Cancer, Lung, Non-Small Cell	Primary Malignant Neoplasm Of Lung
Bronchioloalveolar Adenocarcinoma

Stromal Dystrophy

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy	Benign Rolandic Epilepsy
Epilepsy, Rolandic	Bcects
Benign Childhood Epilepsy With Centrotemporal Spike	Sylvan Seizures
Becrs	Bects
Bre	Benign Epilepsy Of Childhood With Centrotemporal Spikes
Benign Familial Epilepsy Of Childhood With Rolandic Spikes	Centrotemporal Epilepsy

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09500	NPRL2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	NPRL2	RGD	RGD:1308927
Mus musculus	NPRL2	MGD	MGI:1914482
Bos taurus	NPRL2	VGNC	VGNC:32214
Macaca mulatta	NPRL2	VGNC	VGNC:75251
Felis catus	NPRL2	VGNC	VGNC:63873
Canis familiaris	NPRL2	VGNC	VGNC:43930

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