HLF
HLF transcription factor, PAR bZIP family member
Summary
This gene encodes a member of the proline and acidic-rich (PAR) protein family, a subset of the bZIP transcription factors. The encoded protein forms homodimers or heterodimers with other PAR family members and binds sequence-specific promoter elements to activate transcription. Chromosomal translocations fusing portions of this gene with the E2A gene cause a subset of childhood B-lineage acute lymphoid leukemias. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Known Variants20 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs745782196 | 17:53,342,901 | A/G | — | uncertain significance |
| rs140492413 | 17:53,342,920 | A/G | — | benign |
| rs2509925195 | 17:53,342,931 | C/T | — | uncertain significance |
| rs200223981 | 17:53,342,948 | C/T | — | uncertain significance |
| rs945568063 | 17:53,345,129 | G/A | — | uncertain significance |
| rs200291249 | 17:53,345,254 | G/T | — | uncertain significance |
| rs373604103 | 17:53,345,331 | G/T | — | uncertain significance |
| rs757474218 | 17:53,345,381 | C/T | — | uncertain significance |
| rs977072851 | 17:53,345,444 | C/G | — | uncertain significance |
| rs7224610 | 17:53,364,788 | C/T | — | — |
| rs884303 | 17:53,367,300 | A/G | intron variant | — |
| rs884302 | 17:53,367,458 | T/A | — | — |
| rs10445344 | 17:53,367,788 | T/A | intron variant | — |
| rs6504958 | 17:53,371,843 | T/C | — | — |
| rs1040249035 | 17:53,392,608 | C/T | — | uncertain significance |
| rs1222425771 | 17:53,392,664 | G/C | — | uncertain significance |
| rs756544740 | 17:53,392,729 | G/A | — | uncertain significance |
| rs2509187899 | 17:53,392,767 | A/T | — | uncertain significance |
| rs779581406 | 17:53,392,769 | C/G | — | uncertain significance |
| rs1329585725 | 17:53,398,080 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.