TFAP2D
transcription factor AP-2 delta
Summary
Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II and regulation of cell population proliferation. Predicted to act upstream of or within inferior colliculus development; negative regulation of neuron apoptotic process; and positive regulation of DNA-templated transcription. Predicted to be located in chromatin. Predicted to be part of transcription regulator complex. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants15 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1405344571 | 6:50,682,890 | C/T | — | uncertain significance |
| rs555489976 | 6:50,683,034 | A/G | — | uncertain significance |
| rs1561929711 | 6:50,683,273 | C/T | — | uncertain significance |
| rs573515296 | 6:50,683,317 | C/G | — | uncertain significance |
| rs372669669 | 6:50,686,861 | G/T | — | uncertain significance |
| rs79756578 | 6:50,696,940 | G/A | — | likely benign |
| rs114178534 | 6:50,712,938 | A/G | — | benign |
| rs767647706 | 6:50,718,947 | A/G | — | uncertain significance |
| rs79608033 | 6:50,725,664 | C/T | intron variant | — |
| rs77303563 | 6:50,730,287 | T/A | intron variant | — |
| rs775222966 | 6:50,740,422 | C/A | — | uncertain significance |
| rs764128609 | 6:50,740,432 | T/G | — | uncertain significance |
| rs376933913 | 6:50,740,480 | C/T | — | uncertain significance |
| rs1024808673 | 6:50,740,504 | A/C | — | uncertain significance |
| rs2533037489 | 6:50,740,515 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.