Version 5.4
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
IDBP-30879
betaine--homocysteine S-methyltransferase 2
IDBP-483490
betaine--homocysteine S-methyltransferase 2
IDBP-476396
betaine--homocysteine S-methyltransferase 2
IDBP-482097
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
ENSMUSG00000042118
View Gene Order
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.114172 Hs.666242
RefSeq NM_001178005 NM_017614
HUGO
OMIM
CCDS CCDS4045 CCDS54871
HPRD 12069
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca