ADGRB3 Chromosome 6
Adhesion G protein-coupled receptor B3
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What This Gene Does
This p53-target gene encodes a brain-specific angiogenesis inhibitor, a seven-span transmembrane protein, and is thought to be a member of the secretin receptor family. Brain-specific angiogenesis proteins BAI2 and BAI3 are similar to BAI1 in structure, have similar tissue specificities, and may also play a role in angiogenesis. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Adhesion G protein-coupled receptors, subfamily B
Locus Type
gene with protein product
Location
6q12-q13
Ensembl
ENSG00000135298
Associated Conditions (1)
Short stature
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1562005199 | Health Risk | Likely pathogenic | Short stature, Short stature |
| RS1562137453 | Health Risk | Likely pathogenic | Short stature, Short stature |