TBX21
T-box transcription factor 21
Summary
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human ortholog of mouse Tbx21/Tbet gene. Studies in mouse show that Tbx21 protein is a Th1 cell-specific transcription factor that controls the expression of the hallmark Th1 cytokine, interferon-gamma (IFNG). Expression of the human ortholog also correlates with IFNG expression in Th1 and natural killer cells, suggesting a role for this gene in initiating Th1 lineage development from naive Th precursor cells. [provided by RefSeq, Jul 2008]
Known Variants47 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4794067 | 17:45,808,828 | T/C | upstream gene variant | pathogenic |
| rs17250932 | 17:45,809,307 | T/C | upstream gene variant | — |
| rs1567918419 | 17:45,810,903 | G/A | — | uncertain significance |
| rs771127193 | 17:45,810,910 | C/A | — | uncertain significance |
| rs2240017 | 17:45,810,919 | C/G | missense variant | benign |
| rs972936207 | 17:45,810,932 | C/T | — | uncertain significance |
| rs530103182 | 17:45,810,933 | C/A | — | uncertain significance |
| rs746017796 | 17:45,810,954 | C/A | — | uncertain significance |
| rs893694445 | 17:45,810,995 | C/T | — | uncertain significance |
| rs550237000 | 17:45,811,010 | G/A | — | uncertain significance |
| rs1339256328 | 17:45,811,038 | G/C | — | uncertain significance |
| rs762834320 | 17:45,811,061 | C/T | — | uncertain significance |
| rs1315836956 | 17:45,811,071 | C/T | — | uncertain significance |
| rs2508851916 | 17:45,811,112 | G/T | — | uncertain significance |
| rs2143417463 | 17:45,811,122 | G/T | — | uncertain significance |
| rs1194520612 | 17:45,811,131 | C/T | — | uncertain significance |
| rs377743321 | 17:45,811,146 | C/G | — | uncertain significance |
| rs758874567 | 17:45,811,152 | C/T | — | uncertain significance |
| rs2032171303 | 17:45,811,178 | G/A | — | uncertain significance |
| rs2074190 | 17:45,811,210 | A/G | synonymous variant | benign |
| rs566234302 | 17:45,811,228 | A/G | — | likely benign |
| rs1292680833 | 17:45,811,252 | C/A | — | uncertain significance |
| rs2508859016 | 17:45,820,097 | G/A | — | uncertain significance |
| rs369295345 | 17:45,820,540 | G/A | — | likely benign |
| rs11079788 | 17:45,820,723 | C/T | intron variant | — |
| rs74476153 | 17:45,821,558 | C/T | — | likely benign |
| rs569147274 | 17:45,821,580 | T/A | — | uncertain significance |
| rs1289233026 | 17:45,821,610 | T/C | — | uncertain significance |
| rs750357580 | 17:45,821,640 | C/A | — | uncertain significance |
| rs144813252 | 17:45,821,695 | C/T | — | likely benign |
| rs775445949 | 17:45,821,842 | C/G | — | likely benign |
| rs11650354 | 17:45,822,092 | C/A | — | — |
| rs1202556633 | 17:45,822,179 | G/A | — | uncertain significance |
| rs759136182 | 17:45,822,187 | T/C | — | uncertain significance |
| rs751786712 | 17:45,822,190 | T/C | — | uncertain significance |
| rs757416045 | 17:45,822,194 | C/A | — | uncertain significance |
| rs764888861 | 17:45,822,227 | G/A | — | uncertain significance |
| rs751981250 | 17:45,822,281 | G/T | — | uncertain significance |
| rs778987598 | 17:45,822,295 | C/T | — | uncertain significance |
| rs931201501 | 17:45,822,335 | T/C | — | uncertain significance |
| rs2032313569 | 17:45,822,373 | A/G | — | uncertain significance |
| rs750645061 | 17:45,822,396 | G/T | — | uncertain significance |
| rs201143567 | 17:45,822,472 | C/G | — | uncertain significance |
| rs772631559 | 17:45,822,544 | C/G | — | uncertain significance |
| rs371795833 | 17:45,822,563 | T/C | — | uncertain significance |
| rs151279999 | 17:45,822,633 | C/T | — | benign |
| rs17244587 | 17:45,823,035 | G/A | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.