UniProt functional annotation for P18089



	UniProt functional annotation for P18089

UniProt code: P18089.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Alpha-2 adrenergic receptors mediate the catecholamine- induced inhibition of adenylate cyclase through the action of G proteins. The rank order of potency for agonists of this receptor is clonidine > norepinephrine > epinephrine = oxymetazoline > dopamine > p-tyramine = phenylephrine > serotonin > p-synephrine / p-octopamine. For antagonists, the rank order is yohimbine > chlorpromazine > phentolamine > mianserine > spiperone > prazosin > alprenolol > propanolol > pindolol. {ECO:0000269|PubMed:23105096}.

Subunit: Interacts with RAB26 (PubMed:23105096). Interacts with PPP1R9B (PubMed:24114805). Interacts with GGA1, GGA2 and GGA3 (PubMed:27901063, PubMed:26811329). {ECO:0000269|PubMed:23105096, ECO:0000269|PubMed:24114805, ECO:0000269|PubMed:26811329, ECO:0000269|PubMed:27901063}.

Subcellular location: Cell membrane {ECO:0000269|PubMed:23105096, ECO:0000269|PubMed:26811329, ECO:0000269|PubMed:27901063}; Multi-pass membrane protein {ECO:0000269|PubMed:23105096}. Note=Interaction with RAB26, GGA1, GGA2 and GGA3 mediates transport from the Golgi to the cell membrane. {ECO:0000269|PubMed:23105096, ECO:0000269|PubMed:26811329, ECO:0000269|PubMed:27901063}.

Polymorphism: A rare polymorphic frameshift in position 451 produces a protein of 545 residues. {ECO:0000269|Ref.6}.

Disease: Epilepsy, familial adult myoclonic, 2 (FAME2) [MIM:607876]: 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. {ECO:0000269|PubMed:24114805}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the G-protein coupled receptor 1 family. Adrenergic receptor subfamily. ADRA2B sub-subfamily. {ECO:0000255|PROSITE-ProRule:PRU00521}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Alpha-2 adrenergic receptors mediate the catecholamine- induced inhibition of adenylate cyclase through the action of G proteins. The rank order of potency for agonists of this receptor is clonidine > norepinephrine > epinephrine = oxymetazoline > dopamine > p-tyramine = phenylephrine > serotonin > p-synephrine / p-octopamine. For antagonists, the rank order is yohimbine > chlorpromazine > phentolamine > mianserine > spiperone > prazosin > alprenolol > propanolol > pindolol. {ECO:0000269\|PubMed:23105096}.


Subunit:		Interacts with RAB26 (PubMed:23105096). Interacts with PPP1R9B (PubMed:24114805). Interacts with GGA1, GGA2 and GGA3 (PubMed:27901063, PubMed:26811329). {ECO:0000269\|PubMed:23105096, ECO:0000269\|PubMed:24114805, ECO:0000269\|PubMed:26811329, ECO:0000269\|PubMed:27901063}.
Subcellular location:		Cell membrane {ECO:0000269\|PubMed:23105096, ECO:0000269\|PubMed:26811329, ECO:0000269\|PubMed:27901063}; Multi-pass membrane protein {ECO:0000269\|PubMed:23105096}. Note=Interaction with RAB26, GGA1, GGA2 and GGA3 mediates transport from the Golgi to the cell membrane. {ECO:0000269\|PubMed:23105096, ECO:0000269\|PubMed:26811329, ECO:0000269\|PubMed:27901063}.
Polymorphism:		A rare polymorphic frameshift in position 451 produces a protein of 545 residues. {ECO:0000269\|Ref.6}.
Disease:		Epilepsy, familial adult myoclonic, 2 (FAME2) [MIM:607876]: 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. {ECO:0000269\|PubMed:24114805}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the G-protein coupled receptor 1 family. Adrenergic receptor subfamily. ADRA2B sub-subfamily. {ECO:0000255\|PROSITE-ProRule:PRU00521}.