BHMT2, Official Symbol BHMT2provided by HGNC Official Full Name betaine--homocysteine S-methyltransferase 2provided by HGNC Primary source HGNC:HGNC:1048 See related Ensembl:ENSG00000132840 MIM:605932; AllianceGenome:HGNC:1048 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo 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] Expression Biased expression in kidney (RPKM 175.7), liver (RPKM 113.0) and 1 other tissue See more Orthologs mouse all