BHMT2

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]

Description

Betaine--homocysteine S-methyltransferase 2

Tissue specificity

Group enriched (kidney, liver)

Predicted location

Intracellular

Protein family

Cancer-related genes
Enzymes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

5 (79069767 - 79090069)

Ensembl ID

ENSG00000132840  (ver. 103.38)

Orthologs

Mouse Bhmt2: ENSMUSG00000042118

UniProt

Q9H2M3

neXtProt

NX_Q9H2M3

Human splice variants
Mouse splice variants

Protein structure