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Nprl2 Gene Detail
Summary
  • Symbol
    Nprl2
  • Name
    nitrogen permease regulator-like 2
  • Synonyms
    2810446G01Rik, G21, NPR2L, NPRL2, Tusc4
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914482
    NCBI Gene: 56032
  • Gene Overview
    MyGene.info: NPRL2
Location & Maps
more
  • Sequence Map
    Chr9:107542226-107545706 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      3481 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 58.12 cM, cytoband F1
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    NPRL2, NPR2-like, GATOR1 complex subunit
  • Vertebrate Orthologs
    10
  • Human Ortholog
    NPRL2, NPR2-like, GATOR1 complex subunit
    Orthology source: HomoloGene, HGNC
  • Synonyms
    FFEVF2, NPR2, NPR2L, TUSC4
  • Links
    NCBI Gene ID: 10641
    neXtProt AC: NX_Q8WTW4

  • Chr Location
    3p21.31; chr3:50347487-50351055 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 4771
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: NPRL2
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human NPRL2 associations

Human Disease Mouse Models
       Epilepsy, Familial Focal, with Variable Foci 2; FFEVF2   OMIM: 617116
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    10 phenotypes from 1 allele in 1 genetic background
    6 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.
  • All Mutations and Alleles
    5
  • Gene trapped
    1
  • Targeted
    4
  • Incidental Mutations
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
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000050748 VEGA Gene Model | MGI Sequence Detail 3481 C57BL/6J ±  kb
transcript OTTMUST00000128609 VEGA | MGI Sequence Detail 1441 Not Applicable  
polypeptide OTTMUSP00000069163 VEGA | MGI Sequence Detail 380 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    52 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 61
    cDNA 61

    Microarray probesets 3
References
more
  • Summaries
    All 29
    Developmental Gene Expression 1
    Gene Ontology 2
    Phenotypes 6
  • 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:224837 Dutchak PA, et al., Regulation of Hematopoiesis and Methionine Homeostasis by mTORC1 Inhibitor NPRL2. Cell Rep. 2015 Jul 21;12(3):371-9

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/22/2016
MGI 6.06
The Jackson Laboratory