ADRA2B

adrenoceptor alpha 2B, the group of Adrenoceptors

Basic information

Region (hg38): 2:96112876-96116571

Previous symbols: [ "ADRA2L1", "ADRA2RL1" ]

Links

ENSG00000274286

∙ NCBI:151 ∙ OMIM:104260 ∙ HGNC:282 ∙ Uniprot:P18089 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

benign adult familial myoclonic epilepsy (Supportive), mode of inheritance: AD
epilepsy, familial adult myoclonic, 2 (Limited), mode of inheritance: Unknown
neurodevelopmental disorder (Limited), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Epilepsy, myoclonic, familial adult, 2	AD	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Neurologic	24114805
As with many disorders involving seizures, appropriate interventions may be beneficial

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ADRA2B gene.

not_specified (32 variants)
not_provided (24 variants)
ADRA2B-related_disorder (7 variants)
Epilepsy,_familial_adult_myoclonic,_2 (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADRA2B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000682.7. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				8 clinvar	2 clinvar	10
missense		1 clinvar	40 clinvar	4 clinvar		45
nonsense		1 clinvar	2 clinvar			3
start loss						0
frameshift			2 clinvar			2
splice donor/acceptor (+/-2bp)						0
Total	0	2	44	12	2

Highest pathogenic variant AF is 0.0000065695253

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: 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}.;
Disease: DISEASE: Epilepsy, familial adult myoclonic, 2 (FAME2) [MIM:607876]: A form of cortical myoclonic tremor with epilepsy, a syndrome characterized by cortical myoclonus and variable occurrence of epileptic seizures. 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; both complex partial as well as generalized tonic clonic seizures are described. Some patients exhibit mild cognitive impairment. {ECO:0000269|PubMed:24114805}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Pathway: Neuroactive ligand-receptor interaction - Homo sapiens (human);cGMP-PKG signaling pathway - Homo sapiens (human);Sympathetic Nerve Pathway (Neuroeffector Junction);GPCRs, Class A Rhodopsin-like;Monoamine GPCRs;Signaling by GPCR;Signal Transduction;Adrenoceptors;Amine ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;Adrenaline signalling through Alpha-2 adrenergic receptor;Platelet Aggregation (Plug Formation);Platelet activation, signaling and aggregation;Hemostasis;G alpha (i) signalling events;G alpha (z) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

pRec: 0.111

Intolerance Scores

loftool: 0.761
rvis_EVS: -0.25
rvis_percentile_EVS: 35.99

Haploinsufficiency Scores

pHI
hipred: N
hipred_score: 0.238
ghis

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.450

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Adra2b
Phenotype: respiratory system phenotype; embryo phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); cellular phenotype; homeostasis/metabolism phenotype; growth/size/body region phenotype; muscle phenotype;

Gene ontology

Biological process: activation of MAPK activity;regulation of vascular smooth muscle contraction;G protein-coupled receptor signaling pathway;adenylate cyclase-modulating G protein-coupled receptor signaling pathway;cell-cell signaling;female pregnancy;negative regulation of norepinephrine secretion;platelet activation;activation of protein kinase B activity;negative regulation of epinephrine secretion;receptor transactivation;positive regulation of MAPK cascade;positive regulation of neuron differentiation;positive regulation of blood pressure;positive regulation of uterine smooth muscle contraction;adrenergic receptor signaling pathway;adenylate cyclase-activating adrenergic receptor signaling pathway
Cellular component: plasma membrane;integral component of plasma membrane;cell surface
Molecular function: adrenergic receptor activity;alpha2-adrenergic receptor activity;protein binding;epinephrine binding