RHBDL2
rhomboid like 2
Summary
The protein encoded by this gene is a member of the rhomboid family of integral membrane proteins. This family contains proteins that are related to Drosophila rhomboid protein. Members of this family are found in both prokaryotes and eukaryotes and are thought to function as intramembrane serine proteases. The encoded protein is thought to release soluble growth factors by proteolytic cleavage of certain membrane-bound substrates, including ephrin B2 and ephrin B3. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]
Known Variants24 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2544900642 | 1:39,352,195 | A/G | — | uncertain significance |
| rs552643259 | 1:39,352,234 | T/G | — | uncertain significance |
| rs146033566 | 1:39,352,337 | T/C | — | likely benign |
| rs1642807475 | 1:39,353,651 | G/A | — | uncertain significance |
| rs559162886 | 1:39,361,708 | C/G | — | uncertain significance |
| rs12047907 | 1:39,370,304 | A/T | — | — |
| rs9439092 | 1:39,375,157 | T/A | — | — |
| rs9438990 | 1:39,375,406 | T/A | intron variant | — |
| rs775117865 | 1:39,377,030 | G/A | — | uncertain significance |
| rs1643139392 | 1:39,377,068 | A/G | — | uncertain significance |
| rs4246511 | 1:39,380,385 | T/A | — | — |
| rs750892626 | 1:39,381,297 | A/C | — | uncertain significance |
| rs758715535 | 1:39,381,304 | G/A | — | uncertain significance |
| rs2521003134 | 1:39,381,319 | C/T | — | uncertain significance |
| rs147870493 | 1:39,381,328 | A/T | — | uncertain significance |
| rs766720539 | 1:39,381,379 | C/T | — | uncertain significance |
| rs72938840 | 1:39,384,709 | C/T | missense variant | — |
| rs760049850 | 1:39,384,719 | C/T | — | uncertain significance |
| rs2521036009 | 1:39,384,802 | T/G | — | uncertain significance |
| rs2521036158 | 1:39,384,816 | C/A | — | uncertain significance |
| rs148931378 | 1:39,384,860 | T/A | — | uncertain significance |
| rs768855794 | 1:39,384,871 | T/C | — | uncertain significance |
| rs10789520 | 1:39,389,244 | T/C | upstream gene variant | — |
| rs6600279 | 1:39,409,238 | G/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.