ALKBH5
alkB homolog 5, RNA demethylase
Summary
Enables mRNA N6-methyladenosine dioxygenase activity and molecular condensate scaffold activity. Involved in membraneless organelle assembly; post-transcriptional regulation of gene expression; and response to hypoxia. Acts upstream of or within regulation of mRNA export from nucleus and regulation of mRNA processing. Located in Golgi apparatus; cytosol; and nuclear speck. Is active in paraspeckles. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants15 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2047121497 | 17:18,087,610 | C/T | — | uncertain significance |
| rs201845081 | 17:18,087,835 | G/A | — | uncertain significance |
| rs374187597 | 17:18,087,858 | G/T | — | uncertain significance |
| rs2545354714 | 17:18,087,882 | G/A | — | uncertain significance |
| rs1220965113 | 17:18,087,892 | C/T | — | uncertain significance |
| rs745633033 | 17:18,087,918 | G/C | — | uncertain significance |
| rs1567672973 | 17:18,087,949 | A/G | — | uncertain significance |
| rs534578100 | 17:18,088,127 | C/T | — | likely benign |
| rs548256972 | 17:18,089,470 | G/T | — | — |
| rs541281046 | 17:18,096,275 | C/T | — | — |
| rs755667731 | 17:18,098,287 | A/C | — | uncertain significance |
| rs71372273 | 17:18,105,168 | T/G | — | — |
| rs377225153 | 17:18,110,194 | A/G | — | uncertain significance |
| rs2545365021 | 17:18,110,203 | A/T | — | uncertain significance |
| rs772033885 | 17:18,110,245 | A/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.