Gene Gene information from NCBI Gene database.
Entrez ID 4780
Gene name NFE2 like bZIP transcription factor 2
Gene symbol NFE2L2
Synonyms (NCBI Gene)
HEBP1IMDDHHNRF2Nrf-2
Chromosome 2
Chromosome location 2q31.2
Summary This gene encodes a transcription factor which is a member of a small family of basic leucine zipper (bZIP) proteins. The encoded transcription factor regulates genes which contain antioxidant response elements (ARE) in their promoters; many of these gene
SNPs SNP information provided by dbSNP.
8
SNP ID Visualize variation Clinical significance Consequence
rs1057519920 C>A,G,T Likely-pathogenic 5 prime UTR variant, missense variant, coding sequence variant
rs1057519921 T>C Likely-pathogenic 5 prime UTR variant, missense variant, coding sequence variant
rs1057519922 C>G,T Likely-pathogenic, pathogenic Synonymous variant, missense variant, coding sequence variant, intron variant
rs1057519923 T>A Likely-pathogenic Missense variant, coding sequence variant, stop gained, intron variant
rs1057519924 C>A Likely-pathogenic Missense variant, coding sequence variant, intron variant
miRNA miRNA information provided by mirtarbase database.
445
miRTarBase ID miRNA Experiments Reference
MIRT007310 hsa-miR-144-3p Luciferase reporter assay 23236440
MIRT007310 hsa-miR-144-3p Luciferase reporter assay 23236440
MIRT007311 hsa-miR-153-3p Luciferase reporter assay 23236440
MIRT007312 hsa-miR-142-5p Luciferase reporter assay 23236440
MIRT007313 hsa-miR-27a-3p Luciferase reporter assay 23236440
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
116
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IEA
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IDA 17015834, 20452972
GO:0000976 Function Transcription cis-regulatory region binding IEA
GO:0000976 Function Transcription cis-regulatory region binding TAS 24252804
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600492 7782 ENSG00000116044
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16236
Protein name Nuclear factor erythroid 2-related factor 2 (NF-E2-related factor 2) (NFE2-related factor 2) (Nrf-2) (Nuclear factor, erythroid derived 2, like 2)
Protein function Transcription factor that plays a key role in the response to oxidative stress: binds to antioxidant response (ARE) elements present in the promoter region of many cytoprotective genes, such as phase 2 detoxifying enzymes, and promotes their exp
PDB 2FLU , 2LZ1 , 3ZGC , 4IFL , 5WFV , 6T7V , 7K28 , 7K29 , 7K2A , 7K2B , 7K2C , 7K2D , 7K2E , 7K2K , 7O7B , 7X5E , 7X5F , 7X5G , 8EJR , 8EJS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03131 bZIP_Maf 468 561 bZIP Maf transcription factor Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Highest expression in adult muscle, kidney, lung, liver and in fetal muscle. {ECO:0000269|PubMed:7937919}.
Sequence
MMDLELPPPGLPSQQDMDLIDILWRQDIDLGVSREVFDFSQRRKEYELEKQKKLEKERQE
QLQKEQEKAFFAQLQLDEETGEFLPIQPAQHIQSETSGSANYSQVAHIPKSDALYFDDCM
QLLAQTFPFVDDNEVSSATFQSLVPDIPGHIESPVFIATNQAQSPETSVAQVAPVDLDGM
QQDIEQVWEELLSIPELQCLNIENDKLVETTMVPSPEAKLTEVDNYHFYSSIPSMEKEVG
NCSPHFLNAFEDSFSSILSTEDPNQLTVNSLNSDATVNTDFGDEFYSAFIAEPSISNSMP
SPATLSHSLSELLNGPIDVSDLSLCKAFNQNHPESTAEFNDSDSGISLNTSPSVASPEHS
VESSSYGDTLLGLSDSEVEELDSAPGSVKQNGPKTPVHSSGDMVQPLSPSQGQSTHVHDA
QCENTPEKELPVSPGHRKTPFTKDKHSSRLEAHLTRDELRAKALHIPFPVEKIINLPVVD
FNEMMSKEQFNEAQLALIRDIRRRGKNKVAAQNCRKRKLENIVELEQDLDHLKDEKEKLL
KEKGENDKSLHLLKKQLSTLY
LEVFSMLRDEDGKPYSPSEYSLQQTRDGNVFLVPKSKKP
DVKKN
Sequence length 605
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Protein processing in endoplasmic reticulum
Parkinson disease
Pathways in cancer
Chemical carcinogenesis - reactive oxygen species
Hepatocellular carcinoma
Lipid and atherosclerosis
Fluid shear stress and atherosclerosis
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
70
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Colorectal cancer Likely pathogenic; Pathogenic rs1553488015 RCV000626453
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunodeficiency, developmental delay, and hypohomocysteinemia Pathogenic; Likely pathogenic rs1057519922, rs1553487947, rs1553487942, rs1553488015 RCV000513666
RCV000513667
RCV000513668
RCV000513670
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer Likely pathogenic rs2105458487 RCV001807877
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANEMIA, SICKLE CELL CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BILIARY CIRRHOSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ABLEPHARON-MACROSTOMIA SYNDROME Ablepharon macrostomia syndrome BEFREE 23722164
★☆☆☆☆
Found in Text Mining only
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 29046485
★☆☆☆☆
Found in Text Mining only
Acute Kidney Insufficiency Acute Kidney Insufficiency CTD_human_DG 24958931
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 25323587, 28505160, 30623427
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 29854090, 29870787, 30174606, 30798137, 31127077, 31781326
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 15657364, 25003661, 29597191, 31032633
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 20347035, 20534738, 21489257, 24040073, 27567474, 28049629, 28849259, 30333878, 31628914
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 20347035, 24040073, 26078725, 26385919, 26923328, 28104435, 28604754, 28967920, 29050246, 29486183, 29526543, 30333878, 30411339, 30556750, 30756407
View all (5 more)
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CLINVAR_DG 26619011
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 18074351, 30597358
★☆☆☆☆
Found in Text Mining only