ADRA2A

Chr 10

adrenoceptor alpha 2A

Also known as: ADRA2, ADRA2R, ADRAR, ALPHA2AAR, FPLD8

Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. The alpha-2-adrenergic receptors are a type of adrenergic receptors (for adrenaline or epinephrine), which inhibit adenylate cyclase. These receptors include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. They are involved in regulating the release of neurotransmitter molecules from sympathetic nerves and from adrenergic neurons in the central nervous system. The sympathetic nervous system regulates cardiovascular function by activating adrenergic receptors in the heart, blood vessels and kidney. Studies in mouse revealed that both the alpha2A and alpha2C receptor subtypes were required for presynaptic transmitter release from the sympathetic nervous system in the heart and from central noradrenergic neurons. The alpha-2-adrenergic receptors are also involved in catecholamine signaling by extracellular regulated protein kinase 1 and 2 (ERK1/2) pathways. A clear association between the alpha-2-adrenergic receptor and disease has not been yet established. [provided by RefSeq, Sep 2019]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLipodystrophy, familial partial, 8
1
Active trials
46
Pubs (1 yr)
P/LP submissions
P/LP missense
1.23
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — ADRA2A
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.23LOEUF
pLI 0.001
Z-score 1.08
OE 0.62 (0.341.23)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.80Z-score
OE missense 0.68 (0.600.77)
172 obs / 252.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.62 (0.341.23)
00.351.4
Missense OE?0.68 (0.600.77)
00.61.4
Synonymous OE?0.86
01.21.6
LoF obs/exp: 6 / 9.6Missense obs/exp: 172 / 252.5Syn Z: 1.27

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ADRA2A · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.