Gene

BHMT2

Species
Homo sapiens
Symbol
BHMT2
Name
betaine--homocysteine S-methyltransferase 2
Synonyms
  • betaine-homocysteine methyltransferase 2
  • FLJ20001
Biotype
protein coding gene
Automated Description
Enables S-methylmethionine-homocysteine S-methyltransferase activity and zinc ion binding activity. Involved in L-methionine salvage; S-adenosylmethionine metabolic process; and S-methylmethionine metabolic process. Located in extracellular exosome. Implicated in congenital heart disease. Biomarker of hepatocellular carcinoma.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR46120
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
79.070M79.072M79.074M79.076M79.078M79.080M79.082M79.084M79.086M79.088M79.090M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions