Gene: BABAM2

Alternate names for this Gene: BRCC4|BRCC45|BRE

Gene Summary: 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2p23.2

Description of this Gene: BRISC and BRCA1 A complex member 2

Type of Gene: protein-coding

rs4401177 in BABAM2 gene and Arthritis, Gouty PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

rs7567409 in BABAM2 gene and Bipolar Disorder PMID 31043756 2019 Genome-wide association study identifies 30 loci associated with bipolar disorder.

rs56078812 in BABAM2 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10173528 in BABAM2 gene and Diverticular Diseases PMID 30177863 2018 Genome-wide association analyses identify 39 new susceptibility loci for diverticular disease.

rs4401177 in BABAM2 gene and Gout PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

rs55819434 in BABAM2 gene and Plexiform leiomyoma PMID 31649266 2019 Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis.

rs17006489 in BABAM2 gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs10189434 in BABAM2 gene and Tonometry PMID 30054594 2018 Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.

PMID 29785010 2018 Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.

PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.

rs62140395 in BABAM2 gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

rs55819434 in BABAM2 gene and Uterine Fibroids PMID 31649266 2019 Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis.

rs7601155 in BABAM2 gene and Waist Circumference PMID 23966867 2013 Genome-wide association of body fat distribution in African ancestry populations suggests new loci.