NFE2 Gene Summary [Human]
Enables several functions, including WW domain binding activity; identical protein binding activity; and protein N-terminus binding activity. Contributes to cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including labyrinthine layer blood vessel development; negative regulation of bone mineralization; and negative regulation of syncytium formation by plasma membrane fusion. Part of protein-DNA complex. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | NFE2 |
| Official Name | nuclear factor, erythroid 2 [Source:HGNC Symbol;Acc:HGNC:7780] |
| Ensembl ID | ENSG00000123405 |
| Bio databases IDs | |
| Aliases | nuclear factor, erythroid 2 |
| Synonyms | NF-E2/P45, nuclear factor, erythroid 2, nuclear factor, erythroid derived 2, p45, P45 NF-E2, p45-nf-ec |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NFE2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PXY motif
- activation domain
- transcription regulator
- dimerization domain
- Sumoylation motif
- DNA binding domain
- PPXY motif
- nucleic acid binding
- transcription activation domain
- WW domain binding
- Basic region leucine zipper
- protein binding
- sequence-specific DNA binding
- identical protein binding
- proline tyrosine motif
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- double-stranded DNA binding
- bZIP
- transcription factor activity
- basic region leucin zipper
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- anemia
- neoplasia
- renal cell cancer
- diabetic nephropathy
- polycythemia vera
- primary myelofibrosis
- bleeding
- microcytosis
- myeloproliferative neoplasm
- myeloproliferative disorder
role in cell
- expression in
- proliferation
- survival
- binding
- quantity
- formation
- differentiation
- maturation
- morphology
- colony formation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- nuclear foci
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NFE2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of transcription, DNA-dependent
- nucleosome disassembly
- hemostasis
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- PML body
- cytoplasm
- protein-DNA complex
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- sequence-specific DNA binding transcription factor activity
- identical protein binding
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding
- WW domain binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity