ADRA2B Chromosome 2

Adrenoceptor alpha 2B
2 variants 2 Health Risk

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What This Gene Does
This intronless gene encodes a seven-pass transmembrane protein. This protein is a member of a subfamily of G protein-coupled receptors that regulate neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. [provided by RefSeq, Apr 2014]
Gene Info
Gene Group
Adrenoceptors
Locus Type
gene with protein product
Location
2q11.2
Ensembl
ENSG00000274286
Associated Conditions (3)
Epilepsy
familial adult myoclonic
2
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS786205528 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial adult myoclonic, 2
RS1307026683 Health Risk Likely pathogenic
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