NFE2L2 NFE2 like bZIP transcription factor 2

Gene ID: 4780, updated on 17-Nov-2024
Gene type: protein coding
Also known as: NRF2; HEBP1; Nrf-2; IMDDHH

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 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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Immunodeficiency, developmental delay, and hypohomocysteinemia MedGen: C4540293OMIM: 617744GeneReviews: Not available	not available

Genomic context

Location:: 2q31.2

Sequence:: Chromosome: 2; NC_000002.12 (177230303..177264727, complement)

Total number of exons:: 6

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for NFE2L2 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
Variation Viewer
Related Variants

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