BHMT2 Back

betaine-homocysteine methyltransferase 2

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NCBI Description of 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.

Community Annotation of BHMT2 Add / Edit BHMT2: Annotations

No community annotations yet for BHMT2.
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Figure notes

• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


BHMT2 is highly significantly mutated in
BHMT2 is significantly mutated in
combined cohort
26 patients (0%)
BHMT2 is near significance in

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for BHMT2