NPRL2 - NPR2 like, GATOR1 complex subunit Gene

Also Known as NPR2; NPR2L; TUSC4; FFEVF2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10641

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS09500	NPRL2 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	NPRL2	NCBI