ADRA2B

Chr 2

adrenoceptor alpha 2B

Also known as: ADRA2L1, ADRA2RL1, ADRARL1, ALPHA2BAR, FAME2, alpha-2BAR

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]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtEpilepsy, familial adult myoclonic, 2

Clinical highlights

Gene-disease validity (ClinGen)
epilepsy · ADRefutedevidence has disproved this relationship
0
Active trials
5
Pubs (1 yr)
P/LP submissions
P/LP missense
1.22
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.22LOEUF
pLI 0.000
Z-score 0.97
OE 0.72 (0.441.22)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.37Z-score
OE missense 0.94 (0.851.04)
270 obs / 287.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.72 (0.441.22)
00.351.4
Missense OE?0.94 (0.851.04)
00.61.4
Synonymous OE?0.88
01.21.6
LoF obs/exp: 10 / 13.9Missense obs/exp: 270 / 287.4Syn Z: 1.07

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ADRA2B · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →