MAFF
MAF bZIP transcription factor F
Summary
The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that lacks a transactivation domain. It is known to bind the US-2 DNA element in the promoter of the oxytocin receptor (OTR) gene and most likely heterodimerizes with other leucine zipper-containing proteins to enhance expression of the OTR gene during term pregnancy. The encoded protein can also form homodimers, and since it lacks a transactivation domain, the homodimer may act as a repressor of transcription. This gene may also be involved in the cellular stress response. Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
Known Variants13 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4821764 | 22:38,599,364 | G/A | regulatory region variant | — |
| rs4820323 | 22:38,599,767 | C/T | — | — |
| rs2899298 | 22:38,603,186 | C/G | upstream gene variant | — |
| rs770292607 | 22:38,610,468 | C/A | — | uncertain significance |
| rs1224883840 | 22:38,610,746 | G/T | — | uncertain significance |
| rs1769644375 | 22:38,610,752 | T/C | — | uncertain significance |
| rs899693402 | 22:38,610,760 | G/A | — | uncertain significance |
| rs933865522 | 22:38,610,769 | C/T | — | uncertain significance |
| rs2518246156 | 22:38,610,775 | A/G | — | likely benign |
| rs2091132482 | 22:38,610,814 | T/C | — | uncertain significance |
| rs925672122 | 22:38,610,846 | C/G | — | uncertain significance |
| rs2518246450 | 22:38,610,850 | C/T | — | uncertain significance |
| rs34066050 | 22:38,612,604 | G/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.