RCAN2
regulator of calcineurin 2
Summary
This gene encodes a member of the regulator of calcineurin (RCAN) protein family. These proteins play a role in many physiological processes by binding to the catalytic domain of calcineurin A, inhibiting calcineurin-mediated nuclear translocation of the transcription factor NFATC1. Expression of this gene in skin fibroblasts is upregulated by thyroid hormone, and the encoded protein may also play a role in endothelial cell function and angiogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]
Known Variants21 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs200220116 | 6:46,191,014 | C/G | — | uncertain significance |
| rs189116829 | 6:46,211,865 | C/T | intron variant | — |
| rs1766531161 | 6:46,214,595 | T/C | — | uncertain significance |
| rs1236704700 | 6:46,214,611 | G/C | — | uncertain significance |
| rs769540909 | 6:46,214,642 | C/G | — | uncertain significance |
| rs188576062 | 6:46,216,242 | T/G | intron variant | — |
| rs1766610834 | 6:46,216,586 | G/T | — | uncertain significance |
| rs78393153 | 6:46,237,610 | G/T | intron variant | — |
| rs142193401 | 6:46,238,648 | C/T | intron variant | — |
| rs191351187 | 6:46,243,322 | T/C | intron variant | — |
| rs147719862 | 6:46,259,000 | A/G | intron variant | — |
| rs115846209 | 6:46,280,355 | C/T | intron variant | — |
| rs184022128 | 6:46,287,730 | G/T | intron variant | — |
| rs779804047 | 6:46,293,165 | C/T | — | uncertain significance |
| rs748654645 | 6:46,342,453 | G/T | — | — |
| rs10498767 | 6:46,363,557 | C/G | intron variant | — |
| rs184252776 | 6:46,369,643 | T/A | intron variant | — |
| rs191756237 | 6:46,424,702 | T/G | — | benign |
| rs184357418 | 6:46,440,433 | A/G | intron variant | — |
| rs1538993 | 6:46,441,428 | A/G | intron variant | — |
| rs145210751 | 6:46,446,292 | C/T | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.