NPRL2 (NPR2 like, GATOR1 complex subunit)

2010-04-01  

Identity

HGNC
NPRL2
LOCATION
3p21.31
LOCUSID
10641
ALIAS
FFEVF2,NPR2,NPR2L,TUSC4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10641
MIM: 607072
HGNC: 24969
Ensembl: ENSG00000114388

Variants:

dbSNP: 10641
ClinVar: 10641
TCGA: ENSG00000114388
COSMIC: NPRL2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000114388ENST00000232501Q8WTW4
ENSG00000114388ENST00000418825F2Z2R8
ENSG00000114388ENST00000429366F2Z3D4
ENSG00000114388ENST00000433381F2Z2R8
ENSG00000114388ENST00000433999F2Z3D4
ENSG00000114388ENST00000448302F2Z2R8
ENSG00000114388ENST00000451194F2Z2R8
ENSG00000114388ENST00000667046A0A590UJY0

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
mTOR signaling pathwayKEGGko04150
mTOR signaling pathwayKEGGhsa04150

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
170186262006The 3p21.3 tumor suppressor NPRL2 plays an important role in cisplatin-induced resistance in human non-small-cell lung cancer cells.29
265058882016Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.27
153749522004Functional characterization of the candidate tumor suppressor gene NPRL2/G21 located in 3p21.3C.26
201930802010Simultaneous down-regulation of tumor suppressor genes RBSP3/CTDSPL, NPRL2/G21 and RASSF1A in primary non-small cell lung cancer.23
271730162016Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.21
191403162008[Down-regulation of RBSP3/CTDSPL, NPRL2/G21, RASSF1A, ITGA9, HYAL1 and HYAL2 genes in non-small cell lung cancer].15
201540272010Npr2, yeast homolog of the human tumor suppressor NPRL2, is a target of Grr1 required for adaptation to growth on diverse nitrogen sources.14
186166802008TUSC4/NPRL2, a novel PDK1-interacting protein, inhibits PDK1 tyrosine phosphorylation and its downstream signaling.13
300937112019The landscape of epilepsy-related GATOR1 variants.11
192746762009The tumor suppressor NPRL2 in hepatocellular carcinoma plays an important role in progression and can be served as an independent prognostic factor.10

Citation

Dessen P

NPRL2 (NPR2 like, GATOR1 complex subunit)

Atlas Genet Cytogenet Oncol Haematol. 2010-04-01

Online version: http://atlasgeneticsoncology.org/gene/51431/nprl2