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Aliases for BHMT2 Gene

Aliases for BHMT2 Gene

  • Betaine--Homocysteine S-Methyltransferase 2 2 3 4
  • SMM-Hcy Methyltransferase 4
  • EC 4
  • EC 64

External Ids for BHMT2 Gene

Summaries for BHMT2 Gene

Entrez Gene Summary for BHMT2 Gene

  • 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]

GeneCards Summary for BHMT2 Gene

BHMT2 (Betaine--Homocysteine S-Methyltransferase 2) is a Protein Coding gene. Diseases associated with BHMT2 include vascular disease. Among its related pathways are One carbon pool by folate and One carbon pool by folate. GO annotations related to this gene include S-adenosylmethionine-homocysteine S-methyltransferase activity and betaine-homocysteine S-methyltransferase activity. An important paralog of this gene is BHMT.

UniProtKB/Swiss-Prot for BHMT2 Gene

  • Involved in the regulation of homocysteine metabolism. Converts homocysteine to methionine using S-methylmethionine (SMM) as a methyl donor.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BHMT2 Gene

Genomics for BHMT2 Gene

Genomic Location for BHMT2 Gene

79,069,717 bp from pter
79,090,074 bp from pter
20,358 bases
Plus strand

Genomic View for BHMT2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BHMT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BHMT2 Gene

Regulatory Elements for BHMT2 Gene

Proteins for BHMT2 Gene

  • Protein details for BHMT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    S-methylmethionine--homocysteine S-methyltransferase BHMT2
    Protein Accession:
    Secondary Accessions:
    • B7Z516
    • Q9NXX7

    Protein attributes for BHMT2 Gene

    363 amino acids
    Molecular mass:
    40354 Da
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 1 zinc ion per subunit.;
    Quaternary structure:
    • Homotetramer (By similarity). May interact with PRNP.
    • Sequence=BAA90880.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for BHMT2 Gene


neXtProt entry for BHMT2 Gene

Proteomics data for BHMT2 Gene at MOPED

Selected DME Specific Peptides for BHMT2 Gene

Post-translational modifications for BHMT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BHMT2 Gene

Domains for BHMT2 Gene

Protein Domains for BHMT2 Gene


  • Contains 1 Hcy-binding domain.:
    • Q9H2M3
genes like me logo Genes that share domains with BHMT2: view

No data available for Gene Families for BHMT2 Gene

Function for BHMT2 Gene

Molecular function for BHMT2 Gene

UniProtKB/Swiss-Prot CatalyticActivity: S-methyl-L-methionine + L-homocysteine = 2 L-methionine.
UniProtKB/Swiss-Prot Function: Involved in the regulation of homocysteine metabolism. Converts homocysteine to methionine using S-methylmethionine (SMM) as a methyl donor.

Enzyme Numbers (IUBMB) for BHMT2 Gene

Gene Ontology (GO) - Molecular Function for BHMT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008270 zinc ion binding IDA 18230605
GO:0008898 S-adenosylmethionine-homocysteine S-methyltransferase activity IDA 18230605
GO:0047150 NOT betaine-homocysteine S-methyltransferase activity IDA 18230605
GO:0061627 S-methylmethionine-homocysteine S-methyltransferase activity IDA 18230605
genes like me logo Genes that share ontologies with BHMT2: view

Phenotypes for BHMT2 Gene

GenomeRNAi human phenotypes for BHMT2:
genes like me logo Genes that share phenotypes with BHMT2: view

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for BHMT2 Gene

Localization for BHMT2 Gene

Subcellular locations from

Jensen Localization Image for BHMT2 Gene COMPARTMENTS Subcellular localization image for BHMT2 gene
Compartment Confidence
cytosol 3
nucleus 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for BHMT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005829 cytosol IBA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with BHMT2: view

Pathways for BHMT2 Gene

SuperPathways for BHMT2 Gene

genes like me logo Genes that share pathways with BHMT2: view

Pathways by source for BHMT2 Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for BHMT2 Gene
1 BioSystems pathway for BHMT2 Gene

UniProtKB/Swiss-Prot Q9H2M3-BHMT2_HUMAN

  • Pathway: Amino-acid biosynthesis; L-methionine biosynthesis via de novo pathway; L-methionine from L-homocysteine (BhmT route): step 1/1

Interacting Proteins for BHMT2 Gene

Gene Ontology (GO) - Biological Process for BHMT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006577 NOT amino-acid betaine metabolic process IDA 18230605
GO:0009086 methionine biosynthetic process --
GO:0032259 methylation IEA --
GO:0033477 S-methylmethionine metabolic process IDA 18230605
GO:0033528 S-methylmethionine cycle IBA --
genes like me logo Genes that share ontologies with BHMT2: view

Compounds for BHMT2 Gene

(8) HMDB Compounds for BHMT2 Gene

Compound Synonyms Cas Number PubMed IDs
  • (Carboxymethyl)trimethylammonium hydroxide inner salt
  • (Dimethylamino)acetate
  • (+-)-homocysteine
  • N'-Acetylspermine
  • N-(3-aminopropyl)-1,3-Propanediamine

(1) Drugbank Compounds for BHMT2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
  • (S)-2-amino-4-(methylthio)butanoic acid
63-68-3 target product of
genes like me logo Genes that share compounds with BHMT2: view

Transcripts for BHMT2 Gene

Unigene Clusters for BHMT2 Gene

Betaine--homocysteine S-methyltransferase 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BHMT2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10
SP1: - -
SP2: -
SP4: -

Relevant External Links for BHMT2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for BHMT2 Gene

mRNA expression in normal human tissues for BHMT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BHMT2 Gene

This gene is overexpressed in Liver (16.1) and Kidney - Cortex (9.6).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for BHMT2 Gene

SOURCE GeneReport for Unigene cluster for BHMT2 Gene Hs.114172

mRNA Expression by UniProt/SwissProt for BHMT2 Gene

Tissue specificity: Expressed in liver and kidney and at reduced levels in the brain, heart, and skeletal muscle.
genes like me logo Genes that share expressions with BHMT2: view

Orthologs for BHMT2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for BHMT2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia BHMT2 36
  • 99.45 (n)
  • 99.17 (a)
BHMT2 37
  • 99 (a)
(Bos Taurus)
Mammalia BHMT2 36
  • 85.36 (n)
  • 83.82 (a)
BHMT2 37
  • 81 (a)
(Canis familiaris)
Mammalia BHMT2 36
  • 87.85 (n)
  • 88.67 (a)
BHMT2 37
  • 88 (a)
(Mus musculus)
Mammalia Bhmt2 36
  • 84.53 (n)
  • 85.91 (a)
Bhmt2 16
Bhmt2 37
  • 86 (a)
(Monodelphis domestica)
Mammalia BHMT2 37
  • 81 (a)
(Ornithorhynchus anatinus)
Mammalia BHMT2 37
  • 79 (a)
(Rattus norvegicus)
Mammalia Bhmt2 36
  • 83.79 (n)
  • 85.64 (a)
(Gallus gallus)
Aves -- 37
  • 67 (a)
(Anolis carolinensis)
Reptilia -- 37
  • 68 (a)
(Danio rerio)
Actinopterygii bhmt 37
  • 63 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAM4 39
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 45 (a)
-- 37
  • 46 (a)
CSA.1410 37
  • 44 (a)
CSA.4075 37
  • 44 (a)
Species with no ortholog for BHMT2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BHMT2 Gene

Gene Tree for BHMT2 (if available)
Gene Tree for BHMT2 (if available)

Paralogs for BHMT2 Gene

Paralogs for BHMT2 Gene

Selected SIMAP similar genes for BHMT2 Gene using alignment to 3 proteins: Pseudogenes for BHMT2 Gene

genes like me logo Genes that share paralogs with BHMT2: view

Variants for BHMT2 Gene

Sequence variations from dbSNP and Humsavar for BHMT2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs10944 -- 79,090,022(-) TGTGA(A/C)AAAAA utr-variant-3-prime
rs477020 -- 79,074,039(-) GGAGG(C/G)TGCTC intron-variant
rs486388 -- 79,076,473(-) TACAG(A/G)AAGGc intron-variant
rs509119 -- 79,078,109(-) AATCA(A/G)AAGCA intron-variant
rs510172 -- 79,077,980(-) tatga(A/G)agtgt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BHMT2 Gene

Variant ID Type Subtype PubMed ID
nsv462216 CNV Loss 19166990
nsv519156 CNV Gain 19592680

Relevant External Links for BHMT2 Gene

HapMap Linkage Disequilibrium report

Disorders for BHMT2 Gene

(1) MalaCards Diseases for BHMT2 Gene

Search for BHMT2 Gene in MalaCards »

(2) University of Copenhagen DISEASES for BHMT2 Gene

Relevant External Links for BHMT2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with BHMT2: view

No data available for UniProtKB/Swiss-Prot for BHMT2 Gene

Publications for BHMT2 Gene

  1. Betaine-homocysteine methyltransferase-2: cDNA cloning, gene sequence, physical mapping, and expression of the human and mouse genes. (PMID: 11087663) Chadwick L.H. … Nadeau J.H. (Genomics 2000) 2 3 4 23
  2. Betaine-homocysteine S-methyltransferase-2 is an S-methylmethionine- homocysteine methyltransferase. (PMID: 18230605) Szegedi S.S. … Garrow T.A. (J. Biol. Chem. 2008) 2 3 4 23
  3. Human betaine-homocysteine methyltransferase (BHMT) and BHMT2: common gene sequence variation and functional characterization. (PMID: 18457970) Li F. … Weinshilboum R.M. (Mol. Genet. Metab. 2008) 3 23
  4. Are the betaine-homocysteine methyltransferase (BHMT and BHMT2) genes risk factors for spina bifida and orofacial clefts? (PMID: 15887275) Zhu H. … Finnell R.H. (Am. J. Med. Genet. A 2005) 23 49
  5. High-throughput multiplex single-nucleotide polymorphism (SNP) analysis in genes involved in methionine metabolism. (PMID: 18427977) Giusti B. … Abbate R. (Biochem. Genet. 2008) 3 49

Products for BHMT2 Gene

Sources for BHMT2 Gene

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