Homo sapiens Gene: BHMT2
Summary
InnateDB Gene IDBG-30875.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BHMT2
Gene Name betaine--homocysteine S-methyltransferase 2
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000132840
Encoded Proteins
betaine--homocysteine S-methyltransferase 2
betaine--homocysteine S-methyltransferase 2
betaine--homocysteine S-methyltransferase 2
betaine--homocysteine S-methyltransferase 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:79069717-79089466
Strand Forward strand
Band q14.1
Transcripts
ENST00000255192 ENSP00000255192
ENST00000521567 ENSP00000430278
ENST00000518666 ENSP00000428640
ENST00000518758
ENST00000519743 ENSP00000430155
ENST00000523472
ENST00000523046
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0008270 zinc ion binding
GO:0008898 S-adenosylmethionine-homocysteine S-methyltransferase activity
GO:0047150 betaine-homocysteine S-methyltransferase activity
GO:0061627 S-methylmethionine-homocysteine S-methyltransferase activity
Biological Process
GO:0009086 methionine biosynthetic process
GO:0032259 methylation
GO:0033477 S-methylmethionine metabolic process
GO:0046500 S-adenosylmethionine metabolic process
GO:0071267 L-methionine salvage
Cellular Component
GO:0005737 cytoplasm
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Gene ID
Gene Order
Method
Confidence
Comments
Low
Tentative data, uncurated. RBBH derived.
Cross-References
SwissProt Q9H2M3
TrEMBL A0A024RAQ0 E5RH96
UniProt Splice Variant
Entrez Gene 23743
UniGene Hs.114172 Hs.666242
RefSeq NM_017614 NM_001178005
HUGO HGNC:1048
OMIM 605932
CCDS CCDS4045 CCDS54871
HPRD 12069
IMGT
EMBL AC008502 AF257473 AK000008 AK298298 BC020665 CH471084
GenPept AAG41356 AAH20665 BAA90880 BAH12752 EAW95829 EAW95830
RNA Seq Atlas 23743