BACH2 Gene Summary [Human]
Enables sequence-specific double-stranded DNA binding activity. Involved in primary adaptive immune response involving T cells and B cells. Located in cytosol and nucleoplasm. Implicated in immunodeficiency 60. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | BACH2 |
| Official Name | BTB domain and CNC homolog 2 [Source:HGNC Symbol;Acc:HGNC:14078] |
| Ensembl ID | ENSG00000112182 |
| Bio databases IDs | |
| Aliases | BTB domain and CNC homolog 2 |
| Synonyms | BTB and CNC homology, basic leucine zipper transcription factor 2, BTBD25, BTB domain and CNC homolog 2, E030004N02Rik, IMD60, LOC653299, RGD1562865 |
| 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 BACH2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- DNA binding domain
- nucleic acid binding
- BTB_POZ
- cysteine-proline dipeptide repeat motif
- Basic region leucine zipper
- protein binding
- sequence-specific DNA binding
- DNA binding
- bZIP domain
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- Broad-Complex, Tramtrack and Bric a brac
- double-stranded DNA binding
- cytoplasmic localization sequence
- BTB/POZ domain
- bZIP
- transcription factor activity
- basic region leucin zipper
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- ankylosing spondylitis
- rheumatoid arthritis
- COVID-19
- autoimmune disease
- epithelial cancer
- celiac disease
- epithelial basal cell carcinoma
- non-insulin-dependent diabetes mellitus
- tumorigenesis
role in cell
- expression in
- degradation in
- differentiation
- formation
- function
- production in
- killing
- apoptosis
- binding in
- proliferation
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
- Cytoplasm
- cytosol
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BACH2 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
- nuclear import
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytosol
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity