ADRA2B
This page contains an overview of the genetic variation in the ADRA2B gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:
ADRA2B gene and transcript details
Gene Name
adrenoceptor alpha 2B
Gene Links
Ensembl: ENSG00000222040 -
Locus Reference Genomic:
Genomic Location
Chromosome 2 : 96,780,545 - 96,781,888 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (1341 bases) | Protein (447 aa) |
|---|---|---|
 |
ENST00000409345 | ENSP00000387281 |
 |
||
 |
NM_000682.5 | |
 |
Summary of ADRA2B in Cardiomyopathies
ADRA2B variants in ExAC
Details of the protein-altering ADRA2B variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.
| Total Variants | Combined frequency of rare variants | |
|---|---|---|
| All Variants | 189 | 0.00327 |
| Truncating | 18 | 0.00031 |
| Missense | 164 | 0.00289 |
| Inframe | 7 | 0.00007 |
| Splice Site | 0 | 0.00000 |