BCL9 Gene Summary [Human]
BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation in B-cell malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic significance in B-cell malignancies. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | BCL9 |
| Official Name | BCL9 transcription coactivator [Source:HGNC Symbol;Acc:HGNC:1008] |
| Ensembl ID | ENSG00000116128 |
| Bio databases IDs | |
| Aliases | BCL9 transcription coactivator |
| Synonyms | 2610202E01RIK, 8030475K17Rik, A330041G23Rik, B cell CLL/lymphoma 9, BCL9 transcription coactivator, BCL9, transcription coactivator, Gm130, LGS |
| 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 BCL9 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- BCL9 homology domain
- beta-catenin binding
- B-cell lymphoma 9 protein
- protein binding
- HD2 domain
Pathways
Biological processes and signaling networks where the BCL9 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- metastasis
- schizophrenia
- congenital hypothyroidism
- chronic obstructive pulmonary disease
- hand-foot syndrome
- congenital heart disease
- intellectual disability and developmental delay
- infection by HIV-1
role in cell
- proliferation
- cellular infiltration by
- invasion
- migration
- differentiation
- binding 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
- Cytoplasm
- perinuclear Golgi regions
- Golgi Apparatus
- sarcoplasm
- cis Golgi networks
- nucleoplasm
- cis Golgi cisternae
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BCL9 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- myotube differentiation involved in skeletal muscle regeneration
- skeletal muscle cell differentiation
- somatic stem cell maintenance
- myoblast differentiation
- canonical Wnt receptor signaling pathway
- transcription from RNA polymerase II promoter
- regulation of transforming growth factor beta receptor signaling pathway
- positive regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- cis-Golgi network
- sarcoplasm
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- transcription coactivator activity
- beta-catenin binding