FOLR2
folate receptor beta
Summary
The protein encoded by this gene is a member of the folate receptor (FOLR) family, and these genes exist in a cluster on chromosome 11. Members of this gene family have a high affinity for folic acid and for several reduced folic acid derivatives, and they mediate delivery of 5-methyltetrahydrofolate to the interior of cells. This protein has a 68% and 79% sequence homology with the FOLR1 and FOLR3 proteins, respectively. Although this protein was originally thought to be specific to placenta, it can also exist in other tissues, and it may play a role in the transport of methotrexate in synovial macrophages in rheumatoid arthritis patients. Multiple transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants19 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs651933 | 11:71,926,660 | G/A | upstream gene variant | — |
| rs536192362 | 11:71,929,010 | G/A | — | — |
| rs769489407 | 11:71,929,665 | G/A | — | uncertain significance |
| rs140402102 | 11:71,929,684 | G/A | — | uncertain significance |
| rs766926768 | 11:71,929,695 | G/A | — | uncertain significance |
| rs765590759 | 11:71,929,710 | C/T | — | uncertain significance |
| rs13908 | 11:71,929,731 | A/G | missense variant | — |
| rs778131035 | 11:71,931,950 | A/G | — | uncertain significance |
| rs74853303 | 11:71,932,013 | G/A | — | benign |
| rs751813033 | 11:71,932,020 | T/C | — | uncertain significance |
| rs116699117 | 11:71,932,021 | G/A | — | benign |
| rs765983993 | 11:71,932,058 | T/A | — | uncertain significance |
| rs1233634291 | 11:71,932,232 | T/G | — | uncertain significance |
| rs143308196 | 11:71,932,277 | T/C | — | uncertain significance |
| rs1474833012 | 11:71,932,567 | C/G | — | uncertain significance |
| rs201476659 | 11:71,932,639 | G/A | — | uncertain significance |
| rs748420995 | 11:71,932,693 | G/A | — | uncertain significance |
| rs747114829 | 11:71,932,720 | C/A | — | uncertain significance |
| rs762646223 | 11:71,932,766 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.