Entity Details

Primary name ADRA2B
Entity type gene
Source Source Link

Details

PrimaryID151
RefseqGeneNG_032950
SymbolADRA2B
Nameadrenoceptor alpha 2B
Chromosome2
Location2q11.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-07-27
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsADA2B_HUMAN

GO terms

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GOName
GO:0000187 obsolete activation of MAPK activity
GO:0003056 regulation of vascular associated smooth muscle contraction
GO:0004930 G protein-coupled receptor activity
GO:0004938 alpha2-adrenergic receptor activity
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0007186 G protein-coupled receptor signaling pathway
GO:0007267 cell-cell signaling
GO:0007565 female pregnancy
GO:0009986 cell surface
GO:0010700 negative regulation of norepinephrine secretion
GO:0030168 platelet activation
GO:0032148 activation of protein kinase B activity
GO:0032811 negative regulation of epinephrine secretion
GO:0035624 receptor transactivation
GO:0043231 intracellular membrane-bounded organelle
GO:0043410 positive regulation of MAPK cascade
GO:0045666 positive regulation of neuron differentiation
GO:0045777 positive regulation of blood pressure
GO:0051379 epinephrine binding
GO:0070474 positive regulation of uterine smooth muscle contraction
GO:0071875 adrenergic receptor signaling pathway
GO:0071880 adenylate cyclase-activating adrenergic receptor signaling pathway

Diseases

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Disease IDSourceNameDescription
607876 OMIMEpilepsy, familial adult myoclonic, 2 (FAME2)A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME2 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.