Gene: ADGRB2

Alternate names for this Gene: BAI2

Gene Summary: This gene encodes a a seven-span transmembrane protein that is thought to be a member of the secretin receptor family. The encoded protein is a brain-specific inhibitor of angiogenesis. The mature peptide may be further cleaved into additional products (PMID:20367554). Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 1

Location in Chromosome : 1p35.2

Description of this Gene: adhesion G protein-coupled receptor B2

Type of Gene: protein-coding

rs778361520 in ADGRB2 gene and Abnormality of somatosensory evoked potentials PMID 28891236 2017 A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity.

rs778361520 in ADGRB2 gene and Cachexia PMID 28891236 2017 A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity.

rs778361520 in ADGRB2 gene and Fecal Incontinence PMID 28891236 2017 A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity.

rs778361520 in ADGRB2 gene and Gait abnormality PMID 28891236 2017 A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity.

rs778361520 in ADGRB2 gene and Increased CSF protein PMID 28891236 2017 A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity.

rs778361520 in ADGRB2 gene and Nystagmus PMID 28891236 2017 A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity.

rs778361520 in ADGRB2 gene and Progressive spastic paraparesis PMID 28891236 2017 A de novo C-terminal mutation (R1465W) in the adhesion GPCR BAI2 (also known as ADGRB2) was identified in a patient suffering from progressive spastic paraparesis and other neurological symptoms.

rs778361520 in ADGRB2 gene and Urinary Incontinence PMID 28891236 2017 A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity.

rs2050256 in ADGRB2 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.