TCF7
transcription factor 7
Summary
This gene encodes a member of the T-cell factor/lymphoid enhancer-binding factor family of high mobility group (HMG) box transcriptional activators. This gene is expressed predominantly in T-cells and plays a critical role in natural killer cell and innate lymphoid cell development. The encoded protein forms a complex with beta-catenin and activates transcription through a Wnt/beta-catenin signaling pathway. Mice with a knockout of this gene are viable and fertile, but display a block in T-lymphocyte differentiation. Alternative splicing results in multiple transcript variants. Naturally-occurring isoforms lacking the N-terminal beta-catenin interaction domain may act as dominant negative regulators of Wnt signaling. [provided by RefSeq, Oct 2016]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs756699 | 5:133,446,575 | C/T | regulatory region variant | — |
| rs1321928612 | 5:133,450,611 | A/G | — | uncertain significance |
| rs1237423250 | 5:133,450,634 | G/C | — | uncertain significance |
| rs1048236309 | 5:133,450,655 | C/T | — | uncertain significance |
| rs1212234763 | 5:133,450,722 | C/T | — | uncertain significance |
| rs1052562972 | 5:133,450,809 | T/G | — | uncertain significance |
| rs1458662519 | 5:133,450,812 | C/T | — | uncertain significance |
| rs1405525210 | 5:133,450,814 | G/A | — | uncertain significance |
| rs918278819 | 5:133,450,817 | G/A | — | uncertain significance |
| rs930991690 | 5:133,450,826 | G/A | — | uncertain significance |
| rs757624060 | 5:133,450,829 | G/A | — | uncertain significance |
| rs762174577 | 5:133,451,061 | C/A | — | uncertain significance |
| rs1374992763 | 5:133,451,614 | G/C | — | uncertain significance |
| rs138761950 | 5:133,451,615 | A/C | — | uncertain significance |
| rs760960160 | 5:133,451,618 | G/A | — | uncertain significance |
| rs1755765265 | 5:133,451,642 | C/T | — | uncertain significance |
| rs56210162 | 5:133,451,644 | G/A | — | uncertain significance |
| rs149417339 | 5:133,451,652 | C/T | — | likely benign |
| rs5742913 | 5:133,451,683 | C/G | missense variant | — |
| rs372168965 | 5:133,451,685 | C/T | — | likely benign |
| rs11954596 | 5:133,466,112 | A/G | intron variant | — |
| rs17653687 | 5:133,468,000 | A/G | regulatory region variant | — |
| rs375582645 | 5:133,473,756 | G/A | — | uncertain significance |
| rs144072187 | 5:133,473,766 | C/A | — | uncertain significance |
| rs748400515 | 5:133,473,774 | G/A | — | uncertain significance |
| rs2480735840 | 5:133,473,817 | A/G | — | uncertain significance |
| rs1043782130 | 5:133,474,663 | C/T | — | uncertain significance |
| rs146720876 | 5:133,477,946 | A/T | — | uncertain significance |
| rs149140230 | 5:133,477,956 | C/A | — | uncertain significance |
| rs1241322161 | 5:133,478,515 | G/C | — | uncertain significance |
| rs138493123 | 5:133,478,519 | T/C | — | uncertain significance |
| rs999312759 | 5:133,478,721 | A/G | — | uncertain significance |
| rs1135728 | 5:133,478,773 | G/T | missense variant | — |
| rs1412128558 | 5:133,479,283 | G/A | — | uncertain significance |
| rs1760222597 | 5:133,479,313 | C/T | — | uncertain significance |
| rs746445868 | 5:133,479,325 | A/G | — | uncertain significance |
| rs182000264 | 5:133,481,466 | C/T | — | likely benign |
| rs373896731 | 5:133,481,929 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.