NFATC2
nuclear factor of activated T cells 2
Summary
This gene is a member of the nuclear factor of activated T cells (NFAT) family. The product of this gene is a DNA-binding protein with a REL-homology region (RHR) and an NFAT-homology region (NHR). This protein is present in the cytosol and only translocates to the nucleus upon T cell receptor (TCR) stimulation, where it becomes a member of the nuclear factors of activated T cells transcription complex. This complex plays a central role in inducing gene transcription during the immune response. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Apr 2012]
Known Variants76 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs201617985 | 20:50,007,937 | G/A | — | uncertain significance |
| rs377609235 | 20:50,007,962 | A/C | — | likely pathogenic |
| rs763306998 | 20:50,007,976 | A/G | — | uncertain significance |
| rs2515957125 | 20:50,007,981 | T/C | — | likely benign |
| rs2426295 | 20:50,015,299 | A/C | intron variant | — |
| rs575511792 | 20:50,035,494 | A/G | — | — |
| rs6021191 | 20:50,036,237 | A/T | regulatory region variant | — |
| rs6021193 | 20:50,036,709 | A/T | — | — |
| rs2515671142 | 20:50,048,688 | G/C | — | uncertain significance |
| rs753841433 | 20:50,048,690 | G/A | — | uncertain significance |
| rs75923936 | 20:50,048,695 | G/A | — | benign |
| rs145231526 | 20:50,048,783 | G/A | — | likely benign |
| rs376673351 | 20:50,048,789 | G/A | — | uncertain significance |
| rs149166265 | 20:50,048,814 | C/G | — | uncertain significance |
| rs376022750 | 20:50,048,826 | A/G | — | uncertain significance |
| rs1446128292 | 20:50,048,888 | T/C | — | uncertain significance |
| rs758646655 | 20:50,048,913 | G/T | — | uncertain significance |
| rs1419581591 | 20:50,048,952 | C/T | — | uncertain significance |
| rs201657371 | 20:50,049,042 | G/C | — | uncertain significance |
| rs1568969021 | 20:50,049,078 | C/T | — | uncertain significance |
| rs145906106 | 20:50,049,079 | G/A | — | benign |
| rs78964722 | 20:50,049,105 | G/C | — | uncertain significance |
| rs758439316 | 20:50,049,108 | C/T | — | uncertain significance |
| rs2515674675 | 20:50,049,146 | G/A | — | uncertain significance |
| rs1371374764 | 20:50,049,153 | T/C | — | uncertain significance |
| rs200734364 | 20:50,049,162 | C/G | — | uncertain significance |
| rs766401507 | 20:50,049,191 | G/A | — | uncertain significance |
| rs770496466 | 20:50,049,233 | G/A | — | uncertain significance |
| rs746411120 | 20:50,049,259 | A/G | — | likely benign |
| rs906480327 | 20:50,049,269 | G/A | — | uncertain significance |
| rs2515675849 | 20:50,049,281 | T/C | — | uncertain significance |
| rs752700803 | 20:50,051,757 | C/T | — | uncertain significance |
| rs528371807 | 20:50,051,781 | T/C | — | uncertain significance |
| rs148347040 | 20:50,051,805 | C/T | — | uncertain significance |
| rs769925564 | 20:50,051,820 | C/T | — | uncertain significance |
| rs2515760705 | 20:50,071,201 | G/C | — | uncertain significance |
| rs1986208674 | 20:50,071,219 | C/T | — | uncertain significance |
| rs747655558 | 20:50,090,643 | G/T | — | uncertain significance |
| rs1174454437 | 20:50,092,025 | G/A | — | uncertain significance |
| rs368332100 | 20:50,092,043 | G/A | — | uncertain significance |
| rs181122021 | 20:50,092,077 | T/A | — | likely benign |
| rs936934373 | 20:50,092,152 | T/G | — | uncertain significance |
| rs12479626 | 20:50,092,193 | T/C | — | benign |
| rs4809847 | 20:50,108,320 | G/T | intron variant | — |
| rs6021247 | 20:50,108,980 | G/A | regulatory region variant | — |
| rs150589717 | 20:50,109,268 | G/A | regulatory region variant | — |
| rs6123045 | 20:50,118,842 | C/G | — | — |
| rs41307211 | 20:50,133,431 | G/A | — | likely benign |
| rs766011176 | 20:50,133,447 | C/T | — | uncertain significance |
| rs2076360432 | 20:50,133,472 | G/A | — | uncertain significance |
| rs2076432782 | 20:50,137,366 | A/T | — | — |
| rs2516115660 | 20:50,139,629 | G/C | — | uncertain significance |
| rs1375635328 | 20:50,139,649 | C/T | — | likely benign |
| rs115260036 | 20:50,139,691 | C/T | — | benign |
| rs145325613 | 20:50,139,803 | C/T | — | uncertain significance |
| rs757996175 | 20:50,139,821 | G/C | — | uncertain significance |
| rs2076485039 | 20:50,139,962 | C/T | — | uncertain significance |
| rs1271064510 | 20:50,139,992 | A/G | — | likely benign |
| rs2516121390 | 20:50,140,007 | T/C | — | likely benign |
| rs752447034 | 20:50,140,021 | C/T | — | likely benign |
| rs758870046 | 20:50,140,058 | G/A | — | uncertain significance |
| rs2516122687 | 20:50,140,089 | A/G | — | uncertain significance |
| rs1476291246 | 20:50,140,098 | C/T | — | uncertain significance |
| rs2516122970 | 20:50,140,107 | T/C | — | uncertain significance |
| rs377414796 | 20:50,140,187 | G/T | — | uncertain significance |
| rs1390884615 | 20:50,140,194 | C/T | — | uncertain significance |
| rs761097460 | 20:50,140,455 | G/T | — | uncertain significance |
| rs2076498532 | 20:50,140,463 | G/T | — | uncertain significance |
| rs745445841 | 20:50,140,503 | C/T | — | uncertain significance |
| rs556060763 | 20:50,140,514 | G/T | — | uncertain significance |
| rs2516127395 | 20:50,140,515 | G/A | — | uncertain significance |
| rs780486972 | 20:50,140,544 | G/A | — | uncertain significance |
| rs140836558 | 20:50,140,629 | C/G | — | benign |
| rs6021270 | 20:50,141,264 | T/C | intron variant | — |
| rs778213583 | 20:50,158,999 | C/G | — | uncertain significance |
| rs2516229924 | 20:50,159,008 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.