IRF2BPL Gene Summary [Human]
This gene encodes a transcription factor that may play a role in regulating female reproductive function. [provided by RefSeq, Jun 2012]
Details
| Type | Protein Coding |
| Official Symbol | IRF2BPL |
| Official Name | interferon regulatory factor 2 binding protein like [Source:HGNC Symbol;Acc:HGNC:14282] |
| Ensembl ID | ENSG00000119669 |
| Bio databases IDs | |
| Aliases | interferon regulatory factor 2 binding protein like, enhanced at puberty 1 |
| Synonyms | 6430527G18Rik, C14orf4, EAP1, interferon regulatory factor 2 binding protein-like, NEDAMSS, Pqcp, RGD1310994 |
| 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 IRF2BPL often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ring like zinc finger domain
- ubiquitin protein ligase activity
- RING finger (Really Interesting New Gene) domain and U-box domain superfamily
- Ring finger
- enzyme
- protein binding
- Interferon regulatory factor 2-binding protein zinc finger
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- neurodegenerative disorder
- Alzheimer disease
- major depression
- neurodevelopmental disorder with regression, abnormal movements, loss of speech and seizures
- hereditary disorder
- pervasive developmental disorder
- global developmental delay
- spastic paraplegia
- neurodevelopmental disorder
role in cell
- expression in
- activation in
- transcription in
- polyubiquitination in
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
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human IRF2BPL gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- nervous system development
- development of secondary female sexual characteristics
- positive regulation of transcription from RNA polymerase II promoter
- protein ubiquitination
Cellular Component
Where in the cell the gene product is active
- nucleus
- extracellular space
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding