IRF5
interferon regulatory factor 5
Summary
This gene encodes a member of the interferon regulatory factor (IRF) family, a group of transcription factors with diverse roles, including virus-mediated activation of interferon, and modulation of cell growth, differentiation, apoptosis, and immune system activity. Members of the IRF family are characterized by a conserved N-terminal DNA-binding domain containing tryptophan (W) repeats. Alternative promoter use and alternative splicing result in multiple transcript variants, and a 30-nt indel polymorphism (SNP rs60344245) can result in loss of a 10-aa segment. [provided by RefSeq, Dec 2016]
Known Variants53 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3778754 | 7:128,575,552 | C/T | — | — |
| rs3757385 | 7:128,577,304 | T/G | upstream gene variant | — |
| rs6953165 | 7:128,578,210 | C/G | regulatory region variant | — |
| rs41298401 | 7:128,578,307 | C/G | regulatory region variant | — |
| rs752637 | 7:128,579,420 | T/A | — | — |
| rs3823536 | 7:128,579,666 | G/A | — | benign |
| rs3778752 | 7:128,580,047 | G/T | regulatory region variant | — |
| rs3807306 | 7:128,580,680 | G/T | regulatory region variant | — |
| rs11761199 | 7:128,581,835 | A/G | intron variant | — |
| rs148928811 | 7:128,582,151 | C/G | — | uncertain significance |
| rs2128959402 | 7:128,582,179 | T/G | — | uncertain significance |
| rs183734949 | 7:128,582,340 | G/A | — | likely benign |
| rs35000415 | 7:128,585,616 | C/T | intron variant | — |
| rs745693125 | 7:128,585,929 | G/A | — | uncertain significance |
| rs146462268 | 7:128,585,952 | G/A | — | benign |
| rs138098174 | 7:128,586,006 | C/T | — | likely benign |
| rs139688977 | 7:128,586,057 | C/T | — | likely benign |
| rs943756715 | 7:128,586,582 | T/A | — | uncertain significance |
| rs772266449 | 7:128,586,590 | G/A | — | uncertain significance |
| rs201418545 | 7:128,586,616 | G/A | — | benign |
| rs781456978 | 7:128,587,296 | C/T | — | uncertain significance |
| rs1796357991 | 7:128,587,337 | G/A | — | uncertain significance |
| rs374213013 | 7:128,587,343 | T/A | — | uncertain significance |
| rs750603767 | 7:128,587,377 | C/T | — | uncertain significance |
| rs202130620 | 7:128,587,378 | G/A | — | benign |
| rs367880963 | 7:128,587,407 | C/T | — | uncertain significance |
| rs201659973 | 7:128,587,425 | C/T | — | uncertain significance |
| rs556267493 | 7:128,587,452 | C/A | — | uncertain significance |
| rs904357361 | 7:128,587,518 | T/C | — | uncertain significance |
| rs145868185 | 7:128,587,524 | C/T | — | uncertain significance |
| rs778176633 | 7:128,587,531 | G/A | — | likely benign |
| rs538018492 | 7:128,587,819 | G/A | — | uncertain significance |
| rs1796402886 | 7:128,587,824 | C/G | — | uncertain significance |
| rs2535744905 | 7:128,587,858 | G/A | — | uncertain significance |
| rs767924203 | 7:128,587,892 | G/C | — | uncertain significance |
| rs757940206 | 7:128,587,935 | C/T | — | uncertain significance |
| rs1796416756 | 7:128,588,016 | C/A | — | uncertain significance |
| rs767876489 | 7:128,588,042 | C/A | — | uncertain significance |
| rs2230117 | 7:128,588,045 | T/G | — | likely benign |
| rs1796420609 | 7:128,588,085 | G/A | — | uncertain significance |
| rs1412540759 | 7:128,588,104 | A/G | — | uncertain significance |
| rs751082848 | 7:128,588,108 | C/A | — | uncertain significance |
| rs369114262 | 7:128,588,347 | C/T | — | uncertain significance |
| rs201569154 | 7:128,588,348 | G/A | — | uncertain significance |
| rs199556554 | 7:128,588,700 | G/A | — | uncertain significance |
| rs537292247 | 7:128,588,783 | C/T | — | uncertain significance |
| rs145965576 | 7:128,588,831 | G/A | — | likely benign |
| rs2070197 | 7:128,589,000 | T/C | downstream gene variant | risk factor |
| rs10954213 | 7:128,589,427 | G/A | downstream gene variant | risk factor |
| rs11770589 | 7:128,589,488 | G/C | — | — |
| rs10954214 | 7:128,589,633 | C/T | downstream gene variant | — |
| rs10488631 | 7:128,594,183 | T/C | downstream gene variant | — |
| rs2004640 | 7:128,948,029 | G/T | splice region variant | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.