NFE2L2 Chromosome 2
NFE2 like bZIP transcription factor 2
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What This Gene Does
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 genes encode proteins involved in response to injury and inflammation which includes the production of free radicals. Multiple transcript variants encoding different isoforms have been characterized for this gene. [provided by RefSeq, Sep 2015]
Gene Info
Gene Group
"Basic leucine zipper proteins|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
2q31.2
Ensembl
ENSG00000116044
Associated Conditions (6)
Immunodeficiency
developmental delay
and hypohomocysteinemia
NFE2L2-related disorder
Lung cancer
Colorectal cancer
Key Variants
RS1259029761
Conflicting classifications of pathogenicity
Health Risk
RS199673454
Conflicting classifications of pathogenicity
Immunodeficiency, developmental delay, and hypohomocysteinemia
Health Risk
RS2105455133
Conflicting classifications of pathogenicity
Health Risk
RS2105459482
Conflicting classifications of pathogenicity
Immunodeficiency, developmental delay, and hypohomocysteinemia
Health Risk
RS2468287434
Conflicting classifications of pathogenicity
Health Risk
RS368680070
Conflicting classifications of pathogenicity
Health Risk
RS372577933
Conflicting classifications of pathogenicity
NFE2L2-related disorder, NFE2L2-related disorder
Health Risk
RS376817614
Conflicting classifications of pathogenicity
Health Risk
RS553246610
Conflicting classifications of pathogenicity
Health Risk
RS756983196
Conflicting classifications of pathogenicity
Health Risk
RS772306849
Conflicting classifications of pathogenicity
Health Risk
RS777174159
Conflicting classifications of pathogenicity
Health Risk
All Variants (17)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1259029761 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199673454 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, developmental delay, and hypohomocysteinemia |
| RS2105455133 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2105459482 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, developmental delay, and hypohomocysteinemia |
| RS2468287434 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368680070 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS372577933 | Health Risk | Conflicting classifications of pathogenicity | NFE2L2-related disorder, NFE2L2-related disorder |
| RS376817614 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS553246610 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS756983196 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS772306849 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS777174159 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2105458487 | Health Risk | Likely pathogenic | Lung cancer, Lung cancer |
| RS1057519922 | Health Risk | Pathogenic | Immunodeficiency, developmental delay, and hypohomocysteinemia |
| RS1553487942 | Health Risk | Pathogenic | Immunodeficiency, developmental delay, and hypohomocysteinemia |
| RS1553487947 | Health Risk | Pathogenic | Immunodeficiency, developmental delay, and hypohomocysteinemia |
| RS1553488015 | Health Risk | Pathogenic/Likely pathogenic | Colorectal cancer, Immunodeficiency, developmental delay |