Human Gene BHMT2 (ENST00000255192.8) from GENCODE V44
Description: Homo sapiens betaine--homocysteine S-methyltransferase 2 (BHMT2), transcript variant 1, mRNA. (from RefSeq NM_017614) RefSeq Summary (NM_017614): 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]. Gencode Transcript: ENST00000255192.8 Gencode Gene: ENSG00000132840.10 Transcript (Including UTRs) Position: hg38 chr5:79,069,767-79,090,069 Size: 20,303 Total Exon Count: 8 Strand: + Coding Region Position: hg38 chr5:79,069,783-79,088,574 Size: 18,792 Coding Exon Count: 8
ID:BHMT2_HUMAN DESCRIPTION: RecName: Full=S-methylmethionine--homocysteine S-methyltransferase BHMT2; Short=SMM-hcy methyltransferase; EC=2.1.1.5; AltName: Full=Betaine--homocysteine S-methyltransferase 2; FUNCTION: Involved in the regulation of homocysteine metabolism. Converts homocysteine to methionine using S-methylmethionine (SMM) as a methyl donor. CATALYTIC ACTIVITY: Trimethylammonioacetate + L-homocysteine = dimethylglycine + L-methionine. COFACTOR: Binds 1 zinc ion per subunit. PATHWAY: Amine and polyamine degradation; betaine degradation; sarcosine from betaine: step 1/2. PATHWAY: Amino-acid biosynthesis; L-methionine biosynthesis via de novo pathway; L-methionine from L-homocysteine (BhmT route): step 1/1. SUBUNIT: Homotetramer (By similarity). May interact with PRNP. TISSUE SPECIFICITY: Expressed in liver and kidney and at reduced levels in the brain, heart, and skeletal muscle. SIMILARITY: Contains 1 Hcy-binding domain. SEQUENCE CAUTION: Sequence=BAA90880.1; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9H2M3
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.