RERE Gene Summary [Human]
This gene encodes a member of the atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and its overexpression triggers apoptosis. A similar protein in mouse associates with histone deacetylase and is thought to function as a transcriptional co-repressor during embryonic development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | RERE |
| Official Name | arginine-glutamic acid dipeptide repeats [Source:HGNC Symbol;Acc:HGNC:9965] |
| Ensembl ID | ENSG00000142599 |
| Bio databases IDs | |
| Aliases | arginine-glutamic acid dipeptide repeats, atrophin 2 |
| Synonyms | 1110033A15RIK, AI414665, ARG, arginine-glutamic acid dipeptide repeats, arginine glutamic acid dipeptide (RE) repeats, ARP, ATN1L, Atr2, DNB1, eye<m03Jus>, eyes3, mKIAA0458, NEDBEH |
| 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 RERE often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SANT
- transcription regulator
- SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
- transcription co-activator
- Atrophin-1 family
- transcription co-repressor
- Serine-rich region of AP3B1, clathrin-adaptor complex
- protein binding
- BAH
- BAH domain
- ELM2 domain
- Myb-like DNA-binding domain
- zinc finger binding to DNA consensus sequence [AT]GATA[AG]
- zinc finger domain
- ZnF_GATA
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- abdominal cancer
- cancer
- meningitis
- atopic dermatitis
- schizophrenia
- neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
- neck pain
- allergy
- cardiac fibrosis
- asthma
regulates
role in cell
- migration
- phosphorylation in
- quantity
- morphogenesis
- remodeling
- dipeptide repeat protein sensitivity
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
- invadopodia
- nucleoplasm
- nuclear bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RERE gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cerebellar Purkinje cell layer maturation
- chromatin remodeling
- negative regulation of transcription, DNA-dependent
- positive regulation of transcription, DNA-dependent
- cerebellar granule cell precursor proliferation
- branching morphogenesis of a nerve
- radial glia guided migration of Purkinje cell
- dendrite morphogenesis
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear body
- histone deacetylase complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- transcription coactivator activity
- metal ion binding
- transcription corepressor activity
- sequence-specific DNA binding
- chromatin binding