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Nprl2 Gene Detail
Summary
  • 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
Location &
Maps
more
  • 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
Strain
Comparison
more
  • SNPs within 2kb
    52 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
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 (+)



Homology
more
  • 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
    NCBI Gene ID: 10641
    neXtProt AC: NX_Q8WTW4
    UniProt: Q8WTW4

  • Chr Location
    3p21.31; chr3:50347330-50350826 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human NPRL2 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    10 phenotypes from 1 allele in 1 genetic background
    13 phenotype references
Phenotype Overview

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.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    18
  • GO References
    5
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

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
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    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  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 63
      cDNA 62
      Primer pair 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 39
      Developmental Gene Expression 2
      Gene Ontology 5
      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
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory