KCNJ5
This page contains an overview of the genetic variation in the KCNJ5 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:
KCNJ5 gene and transcript details
Gene Name
potassium inwardly-rectifying channel, subfamily J, member 5
Gene Links
Ensembl: ENSG00000120457 -
Locus Reference Genomic: LRG_333
Genomic Location
Chromosome 11 : 128,781,169 - 128,786,626 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (1257 bases) | Protein (419 aa) |
|---|---|---|
 |
ENST00000529694 | ENSP00000433295 |
 |
LRG_333t1 | LRG_333p1 |
 |
NM_000890.3 | |
 |
P48544 |
Summary of KCNJ5 in Cardiomyopathies
KCNJ5 variants in ExAC
Details of the protein-altering KCNJ5 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 | 148 | 0.00215 |
| Truncating | 4 | 0.00004 |
| Missense | 131 | 0.00200 |
| Inframe | 0 | 0.00000 |
| Splice Site | 13 | 0.00011 |