EGR2 Gene Summary [Human]
The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
Details
| Type | Processed Transcript |
| Official Symbol | EGR2 |
| Official Name | early growth response 2 [Source:HGNC Symbol;Acc:HGNC:3239] |
| Ensembl ID | ENSG00000122877 |
| Bio databases IDs | |
| Aliases | early growth response 2, Krox-20 homolog, Drosophila |
| Synonyms | AC153379.6, AT591, CMT1D, CMT4E, early growth response 2, KROX20, M24377, NGF1-B, Zfp-25, Zfp-6 |
| 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 EGR2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Zinc finger, C2H2 type
- SUMO ligase
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- ubiquitin protein ligase binding
- activation domain
- transcription regulator
- DNA binding domain
- PPXY motif
- nucleic acid binding
- transcription factor binding
- chromatin binding
- protein domain specific binding
- protein binding
- sequence-specific DNA binding
- C2H2-type zinc finger
- DNA binding
- phosphorylation site
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- Early growth response N-terminal domain
- double-stranded DNA binding
- Zinc-finger double domain
- transcription factor activity
Pathways
Biological processes and signaling networks where the EGR2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- atopic dermatitis
- weight loss
- diabetic nephropathy
- experimental autoimmune encephalomyelitis
- Charcot-Marie-Tooth disease axonal type 1d
- Huntington disease
- breast cancer
- autoimmune disease
- osteoporosis
- systemic lupus erythematosus
role in cell
- production in
- activation in
- binding in
- expression in
- accumulation
- phosphorylation in
- migration
- quantity
- proliferation
- number
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
- intracellular membrane-bounded organelle
- Cytoplasm
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EGR2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- motor axon guidance
- protein sumoylation
- rhombomere 3 structural organization
- brain segmentation
- positive regulation of Schwann cell differentiation
- facial nerve structural organization
- myelination
- fat cell differentiation
- positive regulation of transcription from RNA polymerase II promoter
- learning or memory
- response to insulin stimulus
- rhombomere 3 formation
- skeletal muscle cell differentiation
- positive regulation of transcription, DNA-dependent
- regulation of neuronal synaptic plasticity
- Schwann cell differentiation
- rhombomere 5 structural organization
- rhombomere 5 formation
- peripheral nervous system development
- brain development
- protein export from nucleus
- regulation of transcription from RNA polymerase II promoter
- rhythmic behavior
- aorta development
- gene expression
- regulation of ossification
- positive regulation of myelination
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- intracellular membrane-bounded organelle
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- HMG box domain binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- ubiquitin protein ligase binding
- metal ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding
- chromatin binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity