NFE2 (nuclear factor, erythroid 2)

2003-02-01  

Identity

HGNC
NFE2
LOCATION
12q13.13
LOCUSID
4778
ALIAS
NF-E2,p45
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4778
MIM: 601490
HGNC: 7780
Ensembl: ENSG00000123405

Variants:

dbSNP: 4778
ClinVar: 4778
TCGA: ENSG00000123405
COSMIC: NFE2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000123405ENST00000312156Q16621
ENSG00000123405ENST00000312156A8K3E0
ENSG00000123405ENST00000435572Q16621
ENSG00000123405ENST00000435572A8K3E0
ENSG00000123405ENST00000540264Q16621
ENSG00000123405ENST00000540264A8K3E0
ENSG00000123405ENST00000553070Q16621
ENSG00000123405ENST00000553070A8K3E0
ENSG00000123405ENST00000553198F8W1N9

Expression (GTEx)

0
50
100
150
200
250
300
350
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
HemostasisREACTOMER-HSA-109582
Factors involved in megakaryocyte development and platelet productionREACTOMER-HSA-983231

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
339456192021Impact of NFE2 mutations on AML transformation and overall survival in patients with myeloproliferative neoplasms.14
345592052021In a multi-institutional cohort of myeloid sarcomas, NFE2 mutation prevalence is lower than previously reported.0
339456192021Impact of NFE2 mutations on AML transformation and overall survival in patients with myeloproliferative neoplasms.14
345592052021In a multi-institutional cohort of myeloid sarcomas, NFE2 mutation prevalence is lower than previously reported.0
316597822020Characteristics and clinical correlates of NFE2 mutations in chronic Myeloproliferative neoplasms.5
325932312020Nuclear factor erythroid 2 (NF-E2) p45-related factor 2 interferes with homeodomain-interacting protein kinase 2/p53 activity to impair solid tumors chemosensitivity.7
325936722020The transcription factor NFE2 enhances expression of the hematopoietic master regulators SCL/TAL1 and GATA2.3
316597822020Characteristics and clinical correlates of NFE2 mutations in chronic Myeloproliferative neoplasms.5
325932312020Nuclear factor erythroid 2 (NF-E2) p45-related factor 2 interferes with homeodomain-interacting protein kinase 2/p53 activity to impair solid tumors chemosensitivity.7
325936722020The transcription factor NFE2 enhances expression of the hematopoietic master regulators SCL/TAL1 and GATA2.3
307554192019Altered NFE2 activity predisposes to leukemic transformation and myelosarcoma with AML-specific aberrations.14
314552132019NFE2/miR-423-5p/TFF1 axis regulates high glucose-induced apoptosis in retinal pigment epithelial cells.15
307554192019Altered NFE2 activity predisposes to leukemic transformation and myelosarcoma with AML-specific aberrations.14
314552132019NFE2/miR-423-5p/TFF1 axis regulates high glucose-induced apoptosis in retinal pigment epithelial cells.15
294760752018The cytoprotective role of DJ-1 and p45 NFE2 against human primary alveolar type II cell injury and emphysema.11

Citation

Dessen P

NFE2 (nuclear factor, erythroid 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41529