BEND3 Gene Summary [Human]
Enables rDNA binding activity. Involved in several processes, including histone modification; negative regulation of macromolecule metabolic process; and protein homooligomerization. Located in heterochromatin; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | BEND3 |
| Official Name | BEN domain containing 3 [Source:HGNC Symbol;Acc:HGNC:23040] |
| Ensembl ID | ENSG00000178409 |
| Bio databases IDs | |
| Aliases | BEN domain containing 3 |
| Synonyms | BEN domain containing 3, KIAA1553, mKIAA1553 |
| 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 BEND3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- The BEN domain is found in diverse animal proteins
- BEN domain
- protein binding
- ribosomal DNA (rDNA) binding protein
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- metabolic syndrome X
- non-insulin-dependent diabetes mellitus
- androgenic alopecia
regulated by
- KMT2D
- Langerhans cells
regulates
- DNA endogenous promoter
- histone H3
- DNA promoter
- RNA polymerase II
- 45S rRNA
- rDNA
role in cell
- methylation in
- trimethylation 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
- heterochromatin
- nucleoplasm
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BEND3 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
- chromatin silencing at rDNA
- protein homooligomerization
- methylation-dependent chromatin silencing
Cellular Component
Where in the cell the gene product is active
- heterochromatin
- nucleolus
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- rDNA binding