Nprl2 MGI Mouse Gene Detail - MGI:1914482 - NPR2 like, GATOR1 complex subunit

Symbol

Nprl2
Name

NPR2 like, GATOR1 complex subunit
Synonyms

2810446G01Rik, G21, NPR2L, NPRL2, Tusc4

Feature Type

protein coding gene
IDs

MGI:1914482
NCBI Gene: 56032
Alliance

gene page
Transcription Start Sites

1 TSS

Sequence Map

Chr9:107419425-107422905 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 9, 58.12 cM, cytoband F1
Mapping Data

3 experiments

SNPs within 2kb

142 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1914482	protein coding gene	Chr9:107419405-107422905 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0035255	protein coding gene	Chr9:109417727-109421206 (+)
A/J	MGP_AJ_G0035234	protein coding gene	Chr9:105439222-105442701 (+)
AKR/J	MGP_AKRJ_G0035166	protein coding gene	Chr9:108071352-108074831 (+)
BALB/cJ	MGP_BALBcJ_G0035228	protein coding gene	Chr9:105108489-105111968 (+)
C3H/HeJ	MGP_C3HHeJ_G0034938	protein coding gene	Chr9:108470512-108473991 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0035748	protein coding gene	Chr9:112409223-112412703 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0032646	protein coding gene	Chr9:102868016-102871654 (+)
CAST/EiJ	MGP_CASTEiJ_G0034249	protein coding gene	Chr9:108403151-108406636 (+)
CBA/J	MGP_CBAJ_G0034906	protein coding gene	Chr9:116382284-116385764 (+)
DBA/2J	MGP_DBA2J_G0035067	protein coding gene	Chr9:104892899-104896379 (+)
FVB/NJ	MGP_FVBNJ_G0035015	protein coding gene	Chr9:103657770-103661249 (+)
LP/J	MGP_LPJ_G0035143	protein coding gene	Chr9:109623837-109627357 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0035054	protein coding gene	Chr9:117995368-117998847 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0035769	protein coding gene	Chr9:108342816-108346295 (+)
PWK/PhJ	MGP_PWKPhJ_G0033956	protein coding gene	Chr9:105212298-105216303 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0033791	protein coding gene	Chr9:108398852-108402324 (+)
WSB/EiJ	MGP_WSBEiJ_G0034370	protein coding gene	Chr9:108225952-108229431 (+)

Human Ortholog

NPRL2, NPR2 like, GATOR1 complex subunit

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

NPRL2, NPR2 like, GATOR1 complex subunit
Synonyms

FFEVF2, NPR2, NPR2L, TUSC4
Links

HGNC:24969

NCBI Gene ID: 10641

neXtProt AC: NX_Q8WTW4

UniProt: Q8WTW4
Chr Location

3p21.31; chr3:50347330-50350826 (-) GRCh38

MGI Vertebrate Homology

Nprl2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: NPRL2
Gene Tree

Nprl2

Diseases

1 with human NPRL2 associations

				Human Disease	Mouse Models
				familial focal epilepsy with variable foci 2 IDs familial focal epilepsy with variable foci 2 DOID:0081422 OMIM:617116

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

10 phenotypes from 1 allele in 1 genetic background
13 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

11
Endonuclease-mediated

5
Gene trapped

2
Targeted

4
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

23 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit reduced embryo size, microphthalmia, occaional anophthalmia, pale liver, reduced fetal liver hematopoiesis, impaired erythropoiesis and reduced methionine synthesis.

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All GO Annotations

17
GO References

6

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

709
Tissues

1
cDNA Data

62
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase nprl2

ZFIN nprl2

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All Sequences

51
RefSeq

11
UniProt

2
CCDS

CCDS23492.1

Ensembl

ENSMUSG00000010057 (Evidence)
NCBI Gene

56032

			Length	Strain/Species	Flank
genomic	ENSMUSG00000010057	Ensembl Gene Model \| MGI Sequence Detail	3481	C57BL/6J	± kb
transcript	ENSMUST00000010201	Ensembl \| MGI Sequence Detail	1441	Not Applicable
polypeptide	ENSMUSP00000010201	Ensembl \| MGI Sequence Detail	380	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000016841 GATOR1 complex protein NPRL2

(term hierarchy)
InterPro Domains

IPR009348 Nitrogen permease regulator 2-like

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All nucleic 63

cDNA 62

Primer pair 1

Microarray probesets 3

Summaries

All 40

Developmental Gene Expression 2

Gene Ontology 6

Phenotypes 13
Earliest

J:66052 Lerman MI, et al., The 630-kb lung cancer homozygous deletion region on human chromosome 3p21.3: identification and evaluation of the resident candidate tumor suppressor genes. The International Lung Cancer Chromosome 3p21.3 Tumor Suppressor Gene Consortium [In Process Citation]. Cancer Res. 2000 Nov 1;60(21):6116-33
Latest

J:332370 Jiang C, et al., Ring domains are essential for GATOR2-dependent mTORC1 activation. Mol Cell. 2023 Jan 5;83(1):74-89.e9

TSS for Nprl2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr86982	Chr9:107419417-107419457 (+)	12 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24