LongevityMap Gene
Gene details
- HGNC symbol
- BABAM2
- Aliases
- BRE; BRCC4; BRCC45
- Common name
- BRISC and BRCA1 A complex member 2
- Description
- 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]
- Cytogenetic Location
- 2p23.2
- UCSC Genome Browser
- View 2p23.2 on the UCSC genome browser
- OMIM
- 610497
- Ensembl
- ENSG00000158019
- UniProt/Swiss-Prot
- BRE_HUMAN
- Entrez Gene
- 9577
- UniGene
- 258314
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
Studies (1)
Significant/Non-significant: 1/0
- Longevity Association
- Significant
- Population
- American (Caucasian)
- Study Design
- Genome-wide association study in 801 centenarians and 914 healthy controls
- Conclusions
- 281 SNPs were found to discriminate between cases and controls
- Indentifier
- rs6732163
- Reference