HMBOX1
homeobox containing 1
Summary
Enables double-stranded telomeric DNA binding activity; identical protein binding activity; and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II; telomere maintenance via telomerase; and telomere-telomerase complex assembly. Located in several cellular components, including centrosome; chromosome, telomeric region; and nuclear body. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants11 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2221894 | 8:28,791,159 | G/C | — | — |
| rs186267268 | 8:28,818,333 | C/T | downstream gene variant | — |
| rs1827140072 | 8:28,827,657 | C/T | — | uncertain significance |
| rs777042809 | 8:28,827,691 | G/A | — | uncertain significance |
| rs1329699435 | 8:28,827,768 | A/G | — | uncertain significance |
| rs773540676 | 8:28,827,939 | A/G | — | uncertain significance |
| rs771420296 | 8:28,827,943 | G/T | — | uncertain significance |
| rs1800740581 | 8:28,876,424 | T/C | — | uncertain significance |
| rs1401466945 | 8:28,902,940 | A/G | — | uncertain significance |
| rs1425151611 | 8:28,908,579 | A/T | — | uncertain significance |
| rs939504352 | 8:28,908,608 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.