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
371211222023Risk signature identification and NPRL2 affects sunitinib sensitivity in clear cell renal cell carcinoma.0
372597682023Seizure features and outcomes in 50 children with GATOR1 variants: A retrospective study, more favorable for epilepsy surgery.2
371211222023Risk signature identification and NPRL2 affects sunitinib sensitivity in clear cell renal cell carcinoma.0
372597682023Seizure features and outcomes in 50 children with GATOR1 variants: A retrospective study, more favorable for epilepsy surgery.2
343767952022A splicing variation in NPRL2 causing familial focal epilepsy with variable foci: additional cases and literature review.3
357310102022Nitrogen Permease Regulator Like-2 (NPRL2 ) truncating mutation causes Ohtahara syndrome with incomplete penetrance: expanding the genotype-phenotype correlations.0
363214032022NPRL2 down-regulation facilitates the growth of hepatocellular carcinoma via the mTOR pathway and autophagy suppression.2
343767952022A splicing variation in NPRL2 causing familial focal epilepsy with variable foci: additional cases and literature review.3
357310102022Nitrogen Permease Regulator Like-2 (NPRL2 ) truncating mutation causes Ohtahara syndrome with incomplete penetrance: expanding the genotype-phenotype correlations.0
363214032022NPRL2 down-regulation facilitates the growth of hepatocellular carcinoma via the mTOR pathway and autophagy suppression.2
339056712021NPRL2 reduces the niraparib sensitivity of castration-resistant prostate cancer via interacting with UBE2M and enhancing neddylation.4
344590632021FOXO1 inhibits prostate cancer cell proliferation via suppressing E2F1 activated NPRL2 expression.7
339056712021NPRL2 reduces the niraparib sensitivity of castration-resistant prostate cancer via interacting with UBE2M and enhancing neddylation.4
344590632021FOXO1 inhibits prostate cancer cell proliferation via suppressing E2F1 activated NPRL2 expression.7
322343752020NPRL2 promotes docetaxel chemoresistance in castration resistant prostate cancer cells by regulating autophagy through the mTOR pathway.9

Citation

Dessen P

NPRL2 (NPR2 like, GATOR1 complex subunit)

Atlas Genet Cytogenet Oncol Haematol. 2010-04-01

Online version: http://atlasgeneticsoncology.org/gene/51431/favicon/js/_common.js