ORMDL3
ORMDL sphingolipid biosynthesis regulator 3
Summary
Involved in ceramide metabolic process. Acts upstream of or within several processes, including negative regulation of B cell apoptotic process; negative regulation of ceramide biosynthetic process; and positive regulation of protein localization to nucleus. Located in endoplasmic reticulum. Part of serine palmitoyltransferase complex. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants14 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3169572 | 17:38,077,412 | G/A | upstream gene variant | — |
| rs1978305333 | 17:38,078,916 | T/G | — | uncertain significance |
| rs767069778 | 17:38,079,378 | T/A | — | uncertain significance |
| rs762701073 | 17:38,080,335 | G/A | — | uncertain significance |
| rs1200430585 | 17:38,080,351 | C/T | — | uncertain significance |
| rs758784137 | 17:38,080,383 | G/A | — | uncertain significance |
| rs2144746568 | 17:38,080,384 | A/G | — | uncertain significance |
| rs374865650 | 17:38,080,396 | C/T | — | uncertain significance |
| rs765427187 | 17:38,080,432 | C/T | — | uncertain significance |
| rs4065275 | 17:38,080,865 | A/T | — | — |
| rs8076131 | 17:38,080,912 | G/A | regulatory region variant | — |
| rs12603332 | 17:38,082,807 | T/C | regulatory region variant | — |
| rs17608925 | 17:38,082,831 | T/C | regulatory region variant | — |
| rs3744246 | 17:38,084,350 | T/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.