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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 61

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 Viral mRNA Translation and One carbon pool by folate. 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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G079069 0.8 ENCODE 18 +0.3 327 1.3 PKNOX1 SAP130 FUS ZMYM3 ZNF48 YY1 ZNF664 ZNF316 EGR1 POLR2A BHMT2 BHMT
GH05G079020 1.1 Ensembl ENCODE 7.6 -48.7 -48655 1.1 ELF3 CTCF ZNF211 ZNF2 RAD21 ZNF101 ZNF366 ZBTB48 SCRT2 ZNF143 ARSB BHMT BHMT2 LOC100505796 GC05M079042
GH05G079030 0.9 ENCODE 7.9 -38.3 -38310 2.4 FOXA2 MLX DMAP1 YY1 NFYC PPARG TBX21 KAT8 ZNF592 MIER3 BHMT LHFPL2 BHMT2 GC05M079042 LOC100505796
GH05G079318 1.1 Ensembl ENCODE 5.9 +249.7 249688 1.7 HDAC1 TBP ZNF133 FOS EGR2 ZNF263 CEBPB ZHX2 ZEB2 ZNF592 BHMT DMGDH BHMT2 LOC102724530 RPS3AP20
GH05G078972 1.1 Ensembl ENCODE 5.4 -96.1 -96140 3.0 ZSCAN4 SIN3A KLF17 FEZF1 RAD21 YY1 SCRT2 RELB IKZF2 ZNF680 BHMT2 GC05P078984 LHFPL2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000183049 -216 600 SAP130 KLF6 FUS NRF1 ZMYM3 MXD4 ZNF48 YY1 ZNF664 POLR2A

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

Selected DME Specific Peptides for BHMT2 Gene

Q9H2M3:
  • ATRWDIQKYAREAYN
  • LIAEYFEHVEEA
  • LEKRGYVKAG
  • RAIAEELAPERGFLP

Post-translational modifications for BHMT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BHMT2 Gene

Domains & Families for BHMT2 Gene

Protein Domains for BHMT2 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for Gene Families and UniProtKB/Swiss-Prot 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:0008168 methyltransferase activity IEA --
GO:0008270 zinc ion binding IDA 18230605
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0047150 NOT betaine-homocysteine S-methyltransferase activity IDA,IEA 18230605
genes like me logo Genes that share ontologies with BHMT2: view
genes like me logo Genes that share phenotypes with BHMT2: view

Animal Model Products

CRISPR Products

miRNA for BHMT2 Gene

miRTarBase miRNAs that target BHMT2

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BHMT2 Gene

Localization for BHMT2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BHMT2 gene
Compartment Confidence
extracellular 5
cytosol 5
nucleus 2

Gene Ontology (GO) - Cellular Components for BHMT2 Gene

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot 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

2 BioSystems pathways 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.

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:0009086 methionine biosynthetic process IEA --
GO:0032259 methylation IEA --
GO:0033477 S-methylmethionine 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
Betaine Approved Nutra 34
spermine Approved Nutra Full agonist, Agonist 0
Dimethylglycine Experimental Pharma 0
putrescine 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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, and MOPED for BHMT2 Gene



Protein tissue co-expression partners for BHMT2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BHMT2 Gene:

BHMT2

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.

Evidence on tissue expression from TISSUES for BHMT2 Gene

  • Kidney(4.8)
  • Liver(4.7)
genes like me logo Genes that share expression patterns with BHMT2: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for BHMT2 Gene

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
chimpanzee
(Pan troglodytes)
Mammalia BHMT2 34 35
  • 99.45 (n)
dog
(Canis familiaris)
Mammalia BHMT2 34 35
  • 87.85 (n)
cow
(Bos Taurus)
Mammalia BHMT2 34 35
  • 85.36 (n)
mouse
(Mus musculus)
Mammalia Bhmt2 34 16 35
  • 84.53 (n)
rat
(Rattus norvegicus)
Mammalia Bhmt2 34
  • 83.79 (n)
oppossum
(Monodelphis domestica)
Mammalia BHMT2 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BHMT2 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 35
  • 67 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 68 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii bhmt 35
  • 63 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAM4 37
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 46 (a)
ManyToMany
-- 35
  • 45 (a)
ManyToMany
CSA.1410 35
  • 44 (a)
ManyToMany
CSA.4075 35
  • 44 (a)
ManyToMany
Species where no ortholog for BHMT2 was found in the sources mined by GeneCards:
  • 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
rs1000004663 -- 79,071,837(+) AAAAA(A/C)AAAAA intron-variant
rs1000092160 -- 79,076,776(+) TGTGT(C/T)CACTA intron-variant
rs1000144343 -- 79,076,453(+) TCTGT(G/T)GGCAC intron-variant
rs1000241362 -- 79,071,343(+) TTCTG(A/G)TCACC intron-variant, upstream-variant-2KB
rs1000287640 -- 79,084,025(+) AGTCC(A/G)TTTGG intron-variant

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

Variant ID Type Subtype PubMed ID
esv2762527 CNV gain 21179565
esv3605521 CNV gain 21293372
nsv1022839 CNV gain 25217958
nsv462216 CNV loss 19166990
nsv519156 CNV gain 19592680
nsv598741 CNV loss 21841781

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 22 64
  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 4 22 64
  3. Early-onset ischaemic stroke: analysis of 58 polymorphisms in 17 genes involved in methionine metabolism. (PMID: 20458436) Giusti B. … Abbate R. (Thromb. Haemost. 2010) 3 46 64
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  5. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A. … Murray J.C. (PLoS ONE 2010) 3 46 64

Products for BHMT2 Gene

Sources for BHMT2 Gene

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