BHMT2
betaine--homocysteine S-methyltransferase 2
Summary
Homocysteine is a sulfur-containing amino acid that plays a crucial role in methylation reactions. Transfer of the methyl group from betaine to homocysteine creates methionine, which donates the methyl group to methylate DNA, proteins, lipids, and other intracellular metabolites. The protein encoded by this gene is one of two methyl transferases that can catalyze the transfer of the methyl group from betaine to homocysteine. Anomalies in homocysteine metabolism have been implicated in disorders ranging from vascular disease to neural tube birth defects such as spina bifida. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
Known Variants39 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs555715126 | 5:78,365,467 | A/G | regulatory region variant | — |
| rs750536578 | 5:78,365,625 | C/T | — | uncertain significance |
| rs673752 | 5:78,367,092 | T/C | upstream gene variant | — |
| rs626105 | 5:78,369,901 | A/G | upstream gene variant | — |
| rs6453429 | 5:78,371,861 | T/G | — | — |
| rs145187884 | 5:78,373,308 | T/G | — | uncertain significance |
| rs534723307 | 5:78,373,316 | G/A | — | uncertain significance |
| rs2530845350 | 5:78,373,321 | G/A | — | uncertain significance |
| rs2530845464 | 5:78,373,393 | G/C | — | uncertain significance |
| rs1755696767 | 5:78,373,418 | T/C | — | uncertain significance |
| rs141648685 | 5:78,375,194 | C/T | — | uncertain significance |
| rs774337484 | 5:78,375,199 | A/G | — | likely benign |
| rs1755738971 | 5:78,375,201 | T/G | — | uncertain significance |
| rs2530848547 | 5:78,375,214 | C/G | — | uncertain significance |
| rs60158007 | 5:78,375,222 | C/T | — | benign |
| rs770007608 | 5:78,376,583 | G/T | — | uncertain significance |
| rs746816858 | 5:78,376,613 | A/G | — | uncertain significance |
| rs2530850805 | 5:78,376,628 | C/G | — | uncertain significance |
| rs745650152 | 5:78,378,657 | T/C | — | uncertain significance |
| rs773684741 | 5:78,378,687 | A/G | — | likely benign |
| rs201898332 | 5:78,378,708 | T/C | — | uncertain significance |
| rs781258660 | 5:78,378,728 | G/C | — | uncertain significance |
| rs145234986 | 5:78,378,749 | G/A | — | uncertain significance |
| rs41272270 | 5:78,378,824 | C/T | intron variant | — |
| rs770134001 | 5:78,379,042 | G/A | — | uncertain significance |
| rs370259397 | 5:78,379,081 | T/C | — | uncertain significance |
| rs1215238410 | 5:78,379,114 | C/T | — | uncertain significance |
| rs761971562 | 5:78,379,147 | C/T | — | uncertain significance |
| rs141370708 | 5:78,379,180 | T/A | — | uncertain significance |
| rs1317084891 | 5:78,379,463 | G/T | — | uncertain significance |
| rs182593094 | 5:78,379,475 | G/C | — | uncertain significance |
| rs2530855742 | 5:78,379,499 | G/A | — | uncertain significance |
| rs750110300 | 5:78,379,511 | A/G | — | uncertain significance |
| rs376104626 | 5:78,379,637 | G/A | — | uncertain significance |
| rs190650867 | 5:78,380,316 | C/T | intron variant | — |
| rs625879 | 5:78,381,689 | A/C | intron variant | — |
| rs595653 | 5:78,383,862 | G/T | — | — |
| rs750578244 | 5:78,384,362 | C/A | — | uncertain significance |
| rs10944 | 5:78,385,845 | T/G | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.