ASIC4
acid sensing ion channel subunit family member 4
Summary
This gene belongs to the superfamily of acid-sensing ion channels, which are proton-gated, amiloride-sensitive sodium channels. These channels have been implicated in synaptic transmission, pain perception as well as mechanoperception. This gene is predominantly expressed in the pituitary gland, and was considered a candidate for paroxysmal dystonic choreoathetosis (PDC), a movement disorder, however, no correlation was found between mutations in this gene and PDC. [provided by RefSeq, Feb 2012]
Known Variants9 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs116598338 | 2:220,379,544 | T/C | — | likely benign |
| rs3731909 | 2:220,379,560 | C/G | synonymous variant | — |
| rs35780339 | 2:220,379,785 | G/A | — | benign |
| rs36089490 | 2:220,379,827 | A/G | — | benign |
| rs758520189 | 2:220,396,730 | G/A | — | likely benign |
| rs113299906 | 2:220,397,073 | G/A | — | benign |
| rs111598906 | 2:220,399,921 | G/A | — | likely benign |
| rs148622543 | 2:220,402,377 | G/T | — | benign |
| rs11695248 | 2:220,402,680 | T/A | missense variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.