ADGRB2 Chromosome 1
Adhesion G protein-coupled receptor B2
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What This Gene Does
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. [provided by RefSeq, Jun 2014]
Gene Info
Gene Group
"Adhesion G protein-coupled receptors, subfamily B|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
1p35.2
Ensembl
ENSG00000121753
Associated Conditions (1)
Progressive spastic paraparesis
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199894607 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS751030662 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS778361520 | Health Risk | Likely pathogenic | Progressive spastic paraparesis, Progressive spastic paraparesis |