BBX Gene Summary [Human]
Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within bone development. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | BBX |
| Official Name | BBX high mobility group box domain containing [Source:HGNC Symbol;Acc:HGNC:14422] |
| Ensembl ID | ENSG00000114439 |
| Bio databases IDs | |
| Aliases | BBX high mobility group box domain containing, x 001 protein |
| Synonyms | 5530401J07RIK, 5730403O13Rik, ARTC1, BBX high mobility group box domain containing, bobby sox HMG box containing, HBP2, HSPC339, LOC100912484, MDS001 |
| 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 BBX often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- double-stranded DNA binding
- high mobility group (HMG)-box domain superfamily
- HMG (high mobility group) box
- HMG-box domain
- high mobility group
- protein binding
- sequence-specific DNA binding
- Domain of unknown function (DUF2028)
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- schizophrenia
- monomorphic epitheliotropic intestinal T-cell lymphoma
- T-cell non-Hodgkin disease
- mature T-cell neoplasia
- neuroticism
- type I enteropathy-associated T-cell lymphoma
- small cell lung carcinoma
- small cell lung cancer
- male pattern hair loss
- osteoarthropathy
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
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BBX gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of transcription from RNA polymerase II promoter
- bone development
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- RNA polymerase II regulatory region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity