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Aliases for BHMT2 Gene

Aliases for BHMT2 Gene

  • Betaine--Homocysteine S-Methyltransferase 2 2 3 4 5
  • SMM-Hcy Methyltransferase 4
  • EC 2.1.1.10 4
  • EC 2.1.1.5 63

External Ids for BHMT2 Gene

Previous GeneCards Identifiers for BHMT2 Gene

  • GC05P077171
  • GC05P078602
  • GC05P078404
  • GC05P078449
  • GC05P078401
  • GC05P073571
  • GC05P078366

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. Among its related pathways are Sulfur amino acid metabolism and Metabolism. GO annotations related to this gene include S-adenosylmethionine-homocysteine S-methyltransferase activity and S-methylmethionine-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

Regulatory Elements for BHMT2 Gene

Enhancers for BHMT2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around BHMT2 on UCSC Golden Path with GeneCards custom track

Promoters for BHMT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BHMT2 on UCSC Golden Path with GeneCards custom track

Genomic Location for BHMT2 Gene

Chromosome:
5
Start:
79,069,717 bp from pter
End:
79,090,074 bp from pter
Size:
20,358 bases
Orientation:
Plus strand

Genomic View for BHMT2 Gene

Genes around BHMT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BHMT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BHMT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BHMT2 Gene

Proteins for BHMT2 Gene

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

    Protein Symbol:
    Q9H2M3-BHMT2_HUMAN
    Recommended name:
    S-methylmethionine--homocysteine S-methyltransferase BHMT2
    Protein Accession:
    Q9H2M3
    Secondary Accessions:
    • B7Z516
    • Q9NXX7

    Protein attributes for BHMT2 Gene

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

    Alternative splice isoforms for BHMT2 Gene

    UniProtKB/Swiss-Prot:

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

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for BHMT2

Domains & Families for BHMT2 Gene

Protein Domains for BHMT2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H2M3

UniProtKB/Swiss-Prot:

BHMT2_HUMAN :
  • Contains 1 Hcy-binding domain.
Domain:
  • Contains 1 Hcy-binding domain.
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

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

Animal Model Products

miRNA for BHMT2 Gene

miRTarBase miRNAs that target BHMT2

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BHMT2 Gene

Localization for BHMT2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BHMT2 Gene COMPARTMENTS Subcellular localization image for BHMT2 gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for BHMT2 Gene

Pathways & Interactions for BHMT2 Gene

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

Pathways by source for BHMT2 Gene

1 BioSystems pathway for BHMT2 Gene
1 GeneGo (Thomson Reuters) 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:0000096 sulfur amino acid metabolic process TAS --
GO:0006577 NOT amino-acid betaine metabolic process IDA 18230605
GO:0032259 methylation IEA --
GO:0033477 S-methylmethionine metabolic process IDA 18230605
GO:0046500 S-adenosylmethionine metabolic process IDA 18230605
genes like me logo Genes that share ontologies with BHMT2: view

No data available for SIGNOR curated interactions for BHMT2 Gene

Drugs & Compounds for BHMT2 Gene

(6) Drugs for BHMT2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Methionine Approved Nutra Target, product of 0
spermine Approved Nutra Full agonist, Agonist 0
Dimethylglycine Experimental Pharma 0
putrescine Experimental Pharma Antagonist, Pore Blocker 0
spermidine Experimental Pharma Antagonist, Pore Blocker 0

(4) Additional Compounds for BHMT2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
homocysteine
  • (+-)-homocysteine
  • (S)-2-amino-4-mercapto-Butanoate
  • (S)-2-amino-4-mercapto-Butanoic acid
  • 2-Amino-4-mercapto-Butanoate
  • 2-Amino-4-mercapto-Butanoic acid
454-29-5
N1-acetylspermine
  • N'-Acetylspermine
  • N'-Monoacetylspermine
  • N(1)-Acetylspermine
  • N-(3-((4-((3-Aminopropyl)amino)butyl)amino)propyl)-Acetamide
  • N-Acetylspermine
25593-72-0
Norspermidine
  • -1,3-propanediamine
  • 1,7-Diamino-4-azaheptane
  • 3, 3'-Diaminodipropylamine
  • 3, {3'-Iminobis[propylamine]}
  • 3,3'-Diamino-Dipropylamine
56-18-8
Trimethylammonioacetate
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: -
SP3:
SP4: -
SP5:

Relevant External Links for BHMT2 Gene

GeneLoc Exon Structure for
BHMT2
ECgene alternative splicing isoforms for
BHMT2

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 (x16.1) and Kidney - Cortex (x9.6).

Protein differential expression in normal tissues from HIPED for BHMT2 Gene

This gene is overexpressed in Liver, secretome (42.2), Kidney (11.3), and Liver (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines 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

Q9H2M3-BHMT2_HUMAN
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 expression patterns with BHMT2: view

Protein tissue co-expression partners for BHMT2 Gene

- Elite partner

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia BHMT2 35
  • 85.36 (n)
  • 83.82 (a)
BHMT2 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BHMT2 35
  • 87.85 (n)
  • 88.67 (a)
BHMT2 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bhmt2 35
  • 84.53 (n)
  • 85.91 (a)
Bhmt2 16
Bhmt2 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BHMT2 35
  • 99.45 (n)
  • 99.17 (a)
BHMT2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bhmt2 35
  • 83.79 (n)
  • 85.64 (a)
oppossum
(Monodelphis domestica)
Mammalia BHMT2 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BHMT2 36
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 36
  • 67 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 68 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii bhmt 36
  • 63 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAM4 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
ManyToMany
-- 36
  • 46 (a)
ManyToMany
CSA.1410 36
  • 44 (a)
ManyToMany
CSA.4075 36
  • 44 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for BHMT2 (if available)
TreeFam:
Gene Tree for BHMT2 (if available)

Paralogs for BHMT2 Gene

Paralogs for BHMT2 Gene

(1) SIMAP similar genes for BHMT2 Gene using alignment to 3 proteins:

Pseudogenes.org 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
rs10944 -- 79,090,022(-) TGTGA(A/C)AAAAA utr-variant-3-prime
rs965172 -- 79,087,014(-) ATATA(C/T)ACACA intron-variant
rs2909855 -- 79,078,267(+) CTGGG(A/G)AAAAA intron-variant
rs1422086 -- 79,079,042(+) CAGCT(A/C)TGTCC intron-variant
rs4020529 -- 79,088,395(+) tgtgt(-/GTGT/TGTG)GTGGT 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

Variation tolerance for BHMT2 Gene

Residual Variation Intolerance Score: 68.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.08; 50.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BHMT2 Gene

HapMap Linkage Disequilibrium report
BHMT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BHMT2 Gene

Disorders for BHMT2 Gene

Relevant External Links for BHMT2

Genetic Association Database (GAD)
BHMT2
Human Genome Epidemiology (HuGE) Navigator
BHMT2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BHMT2

No disorders were found for BHMT2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BHMT2 Gene

Publications for BHMT2 Gene

  1. 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 67
  2. 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 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. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  5. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26

Products for BHMT2 Gene

Sources for BHMT2 Gene

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