NPRL2 - NPR2 like, GATOR1 complex subunit Gene

中文名称：NPR2 样，GATOR1 复合亚基

种属: Homo sapiens

同用名: NPR2; NPR2L; TUSC4; FFEVF2

基因 ID: 10641 | 基因类型: protein coding

关于 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.

功能概要

启用蛋白激酶活性。有助于 GTPase 激活剂活性。参与细胞对氨基酸饥饿的反应； TOR 信号的负调节；和激酶活性的负调节。位于溶酶体膜。 GATOR1 复合体的一部分。与局灶性癫痫有关。 [由基因组资源联盟提供，2022 年 4 月]

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 基因产物(1)

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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables GTPase activator activity	IDA IDA: 通过直接分析推断	30651352	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	18616680	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cellular response to amino acid starvation	IDA IDA: 通过直接分析推断	29590090	GOA
involved in cellular response to amino acid starvation	IMP IMP: 通过突变表型推断	23723238	GOA
involved in negative regulation of TORC1 signaling	IDA IDA: 通过直接分析推断	29590090	GOA
involved in negative regulation of kinase activity	IDA IDA: 通过直接分析推断	18616680	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of GATOR1 complex	IDA IDA: 通过直接分析推断	29590090	GOA
part of GATOR1 complex	IPI IPI: 通过物理相互作用推断	25263562	GOA
is active in lysosomal membrane	IDA IDA: 通过直接分析推断	28199306	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

NPRL2 蛋白结构

NPR2

0
100
200
300
380 a.a.

蛋白主名

其他名称

GATOR complex protein NPRL2

2810446G01Rik

NPRL2 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	NPRL2	Q8WTW4	NPRL3	Homo sapiens	Q12980	GMS	28199315
种属内	NPRL2	Q8WTW4	NPRL3	Homo sapiens	Q12980	Anti Tag CoIP	28514442
种属内	NPRL2	Q8WTW4	NPRL3	Homo sapiens	Q12980	Anti Tag CoIP	33961781
种属内	NPRL2	Q8WTW4	NPRL3	Homo sapiens	Q12980	Anti Tag CoIP	19521502
种属内	NPRL2	Q8WTW4	NPRL3	Homo sapiens	Q12980	Density Sedimentation	28199315

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS09500	NPRL2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

NPRL2 - NPR2 like, GATOR1 complex subunit Gene

关于 NPRL2

功能概要

NPRL2 基因产物(1)

NPRL2 蛋白结构

NPRL2 蛋白互作信息

关联疾病

直系同源

热门区域

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NPRL2 - NPR2 like, GATOR1 complex subunit Gene

关于 NPRL2

功能概要

NPRL2 基因产物(1)

NPRL2 蛋白结构

NPRL2 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

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Z