BABAM2 Gene Summary [Human]
This gene encodes an anti-apoptotic, death receptor-associated protein that interacts with tumor necrosis factor-receptor-1. The encoded protein acts as an adapter in several protein complexes, including the BRCA1-A complex and the BRISC complex. The BRCA1-A complex possesses ubiquitinase activity and targets sites of double strand DNA breaks, while the BRISC complex exhibits deubiquitinase activity and is involved in mitotic spindle assembly. This gene is upregulated in several types of cancer. [provided by RefSeq, Jun 2016]
Details
| Type | Protein Coding |
| Official Symbol | BABAM2 |
| Official Name | BRISC and BRCA1 A complex member 2 [Source:HGNC Symbol;Acc:HGNC:1106] |
| Ensembl ID | ENSG00000158019 |
| Bio databases IDs | |
| Aliases | BRISC and BRCA1 A complex member 2, BRCA1/BRCA2-containing complex, subunit 4 |
| Synonyms | 6030405P19Rik, AI429776, B830038C02Rik, BRCC4, BRCC45, BRE, BRISC and BRCA1 A complex member 2 |
| 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 BABAM2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- peroxisome targeting sequence binding
- BRCA1-A and BRISC complex subunit BRE and related proteins
- tumor necrosis factor receptor binding
- Brain and reproductive organ-expressed protein (BRE)
- protein binding
Pathways
Biological processes and signaling networks where the BABAM2 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
- osteoarthritis
- leiomyomatosis
- primary genetic hyperlipidemia
- bipolar I disorder
- inflammatory bowel disease
- psoriasis
- male pattern hair loss
- bipolar disorder
- open-angle glaucoma
- ulcerative colitis
role in cell
- apoptosis
- expression in
- proliferation
- formation
- cell death
- G2/M phase
- response by
- resorption by
- transactivation in
- replicative senescence
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Nucleus
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BABAM2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of DNA repair
- mitotic cell cycle G2/M transition DNA damage checkpoint
- signal transduction
- regulation of DNA repair
- chromatin organization
- response to DNA damage stimulus
- double-strand break repair
- cell division
- negative regulation of apoptotic process
- apoptotic process
- cellular response to ionizing radiation
- regulation of DNA damage checkpoint
- response to ionizing radiation
- protein K63-linked deubiquitination
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear ubiquitin ligase complex
- BRISC complex
- cytoplasm
- cytosol
- BRCA1-A complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- polyubiquitin binding
- tumor necrosis factor receptor binding
- peroxisome targeting sequence binding