The KCNJ2 gene homepage
| General information |
| Gene symbol |
KCNJ2 |
| Gene name |
potassium inwardly-rectifying channel, subfamily J, member 2 |
| Chromosome |
17 |
| Chromosomal band |
q24.3 |
| Imprinted |
- |
| Genomic reference |
NG_008798.1 |
| Transcript reference |
NM_000891.2 |
| Associated with diseases |
WD |
| Citation reference(s) |
Pan M et al, 2011
Zhang T et al, 2010 |
| Refseq URL |
Coding DNA reference sequence |
| Curators (0) |
- |
| Total number of public variants reported |
94 |
| Unique public DNA variants reported |
65 |
| Individuals with public variants |
0 |
| Hidden variants |
- |
| Notes |
Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. [provided by RefSeq, Jul 2008]
Also known as: IRK1; LQT7; SQT3; ATFB9; HHIRK1; KIR2.1; HHBIRK1 |
| Date created |
April 21, 2013 |
Active transcripts
| Copyright & disclaimer |
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