NFATC4
nuclear factor of activated T cells 4
Summary
This gene encodes a member of the nuclear factor of activated T cells (NFAT) protein family. The encoded protein is part of a DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor stimulation and an inducible nuclear component. NFAT proteins are activated by the calmodulin-dependent phosphatase, calcineurin. The encoded protein plays a role in the inducible expression of cytokine genes in T cells, especially in the induction of interleukin-2 and interleukin-4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Known Variants51 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs768901573 | 14:24,837,619 | C/G | — | uncertain significance |
| rs2139272387 | 14:24,837,623 | T/C | — | uncertain significance |
| rs199738451 | 14:24,837,629 | C/G | — | uncertain significance |
| rs756375882 | 14:24,838,738 | G/A | — | uncertain significance |
| rs776369397 | 14:24,838,776 | C/A | — | uncertain significance |
| rs753131154 | 14:24,838,815 | A/G | — | uncertain significance |
| rs771991273 | 14:24,838,848 | C/T | — | uncertain significance |
| rs375847212 | 14:24,838,872 | G/T | — | uncertain significance |
| rs114908477 | 14:24,838,928 | C/T | — | benign |
| rs202021040 | 14:24,838,935 | C/T | — | uncertain significance |
| rs771660688 | 14:24,838,938 | G/C | — | uncertain significance |
| rs561709903 | 14:24,838,940 | G/A | — | likely benign |
| rs547488128 | 14:24,838,978 | C/T | — | uncertain significance |
| rs374076962 | 14:24,838,983 | C/A | — | uncertain significance |
| rs1430857355 | 14:24,839,022 | G/T | — | uncertain significance |
| rs1197996279 | 14:24,839,062 | G/C | — | uncertain significance |
| rs374228196 | 14:24,839,091 | G/T | — | uncertain significance |
| rs778868358 | 14:24,839,118 | G/T | — | uncertain significance |
| rs2502270963 | 14:24,839,319 | G/A | — | uncertain significance |
| rs781008744 | 14:24,839,383 | C/A | — | uncertain significance |
| rs1185829799 | 14:24,839,496 | C/T | — | uncertain significance |
| rs201320818 | 14:24,839,545 | C/G | — | uncertain significance |
| rs146803212 | 14:24,839,569 | C/T | — | uncertain significance |
| rs200197248 | 14:24,839,639 | G/C | — | uncertain significance |
| rs1267632572 | 14:24,839,772 | C/T | — | uncertain significance |
| rs765805909 | 14:24,839,775 | A/G | — | uncertain significance |
| rs368162484 | 14:24,841,695 | G/C | — | uncertain significance |
| rs745424813 | 14:24,841,713 | C/G | — | uncertain significance |
| rs2502290240 | 14:24,841,739 | G/A | — | uncertain significance |
| rs138954014 | 14:24,841,801 | G/A | — | uncertain significance |
| rs377224735 | 14:24,842,404 | A/G | — | uncertain significance |
| rs149390527 | 14:24,842,498 | C/T | — | uncertain significance |
| rs142749204 | 14:24,842,963 | C/T | — | uncertain significance |
| rs142518531 | 14:24,843,615 | C/A | — | uncertain significance |
| rs1483072740 | 14:24,843,629 | C/A | — | uncertain significance |
| rs139623648 | 14:24,843,658 | T/C | — | uncertain significance |
| rs10141896 | 14:24,845,402 | G/A | — | — |
| rs149129975 | 14:24,845,538 | C/T | — | uncertain significance |
| rs2502325428 | 14:24,845,622 | C/T | — | uncertain significance |
| rs984131194 | 14:24,845,629 | A/G | — | uncertain significance |
| rs2042620650 | 14:24,845,635 | C/T | — | uncertain significance |
| rs2502325991 | 14:24,845,671 | A/C | — | uncertain significance |
| rs187429426 | 14:24,845,731 | G/A | — | uncertain significance |
| rs751912577 | 14:24,845,776 | C/A | — | uncertain significance |
| rs374275387 | 14:24,845,799 | C/G | — | uncertain significance |
| rs202137246 | 14:24,845,804 | C/A | — | uncertain significance |
| rs1231078377 | 14:24,845,808 | A/C | — | uncertain significance |
| rs200885279 | 14:24,845,863 | C/T | — | uncertain significance |
| rs777337327 | 14:24,845,907 | C/T | — | uncertain significance |
| rs142208294 | 14:24,845,980 | G/T | — | uncertain significance |
| rs758997767 | 14:24,846,862 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.