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BHMT Gene

protein-coding   GIFtS: 66
GCID: GC05P078443

Betaine--Homocysteine S-Methyltransferase

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Betaine--Homocysteine S-Methyltransferase1 2     HEL-S-61p2
EC 2.1.1.53 8     Betaine--Homocysteine S-Methyltransferase 12
Betaine Homocysteine Methyltransferase1     Epididymis Secretory Sperm Binding Protein Li 61p2
BHMT12     EC 2.1.18

External Ids:    HGNC: 10471   Entrez Gene: 6352   Ensembl: ENSG000001456927   OMIM: 6028885   UniProtKB: Q930883   

Export aliases for BHMT gene to outside databases

Previous GC identifers: GC05P077213 GC05P078644 GC05P078446 GC05P078491 GC05P073615


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for BHMT Gene:
This gene encodes a cytosolic enzyme that catalyzes the conversion of betaine and homocysteine to dimethylglycine
and methionine, respectively. Defects in this gene could lead to hyperhomocyst(e)inemia, but such a defect has
not yet been observed. (provided by RefSeq, Jul 2008)

GeneCards Summary for BHMT Gene:
BHMT (betaine--homocysteine S-methyltransferase) is a protein-coding gene. Diseases associated with BHMT include placental abruption, and hyperhomocysteinemia. GO annotations related to this gene include protein complex binding and betaine-homocysteine S-methyltransferase activity. An important paralog of this gene is BHMT2.

UniProtKB/Swiss-Prot: BHMT1_HUMAN, Q93088
Function: Involved in the regulation of homocysteine metabolism. Converts betaine and homocysteine to
dimethylglycine and methionine, respectively. This reaction is also required for the irreversible oxidation of
choline




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000005.10  NC_018916.2  NT_034772.7  
Regulatory elements:
   Regulatory transcription factor binding sites in the BHMT gene promoter:
         Tal-1   FOXF2   AP-4   NF-kappaB   Evi-1   GATA-2   S8   Sox9   NF-kappaB1   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBHMT promoter sequence
   Search Chromatin IP Primers for BHMT

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BHMT


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q14.1   Ensembl cytogenetic band:  5q14.1   HGNC cytogenetic band: 5q14.1

BHMT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BHMT gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P078443:  view genomic region     (about GC identifiers)

Start:
78,407,602 bp from pter      End:
78,428,113 bp from pter
Size:
20,512 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: BHMT1_HUMAN, Q93088 (See protein sequence)
Recommended Name: Betaine--homocysteine S-methyltransferase 1  
Size: 406 amino acids; 44998 Da
Cofactor: Binds 1 zinc ion per subunit
Subunit: Homotetramer
2 PDB 3D structures from and Proteopedia for BHMT:
1LT7 (3D)        1LT8 (3D)    
Secondary accessions: Q9UNI9

Explore the universe of human proteins at neXtProt for BHMT: NX_Q93088

Explore proteomics data for BHMT at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for BHMT (Q93088) (see all 13)
     RQVADEG  PSMSKPD  IARQVAD  KLMKEGL 


    See BHMT Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001704.2  
    ENSEMBL proteins: 
     ENSP00000274353   ENSP00000428240  
    Reactome Protein details: Q93088

    BHMT Human Recombinant Protein Products:

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    BHMT Antibody Products:

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    BHMT Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for BHMT
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for BHMT
    Cloud-Clone Corp. CLIAs for BHMT


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR017226 Betaine-hCys_S-MeTrfase_BHMT
     IPR003726 S_MeTrfase

    Graphical View of Domain Structure for InterPro Entry Q93088

    ProtoNet protein and cluster: Q93088

    1 Blocks protein domain: IPB003726 Homocysteine S-methyltransferase

    UniProtKB/Swiss-Prot: BHMT1_HUMAN, Q93088
    Similarity: Contains 1 Hcy-binding domain


    BHMT for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BHMT1_HUMAN, Q93088
    Function: Involved in the regulation of homocysteine metabolism. Converts betaine and homocysteine to
    dimethylglycine and methionine, respectively. This reaction is also required for the irreversible oxidation of
    choline
    Catalytic activity: Trimethylammonioacetate + L-homocysteine = dimethylglycine + L-methionine

         Genatlas biochemistry entry for BHMT:
    betaine-homocysteine methyltransferase,expressed in liver and kidney,sulfur aminoacid metabolism

         Enzyme Numbers (IUBMB): EC 2.1.1.51 2 EC 2.1.12

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008168methyltransferase activity ----
    GO:0008270zinc ion binding IEA--
    GO:0008898homocysteine S-methyltransferase activity IEA--
    GO:0032403protein complex binding IEA--
    GO:0047150betaine-homocysteine S-methyltransferase activity TAS--
         
    BHMT for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for BHMT:
     Increased G1 DNA content 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Bhmt):
     growth/size/body  homeostasis/metabolism  liver/biliary system  renal/urinary system  tumorigenesis 

    BHMT for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Bhmttm1.2Zei for BHMT

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BHMT
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for BHMT

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BHMT
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BHMT

    miRNA
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    Block miRNA regulation of human, mouse, rat BHMT using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate BHMT:
    hsa-miR-4307
    SwitchGear 3'UTR luciferase reporter plasmidBHMT 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for BHMT
    Predesigned siRNA for gene silencing in human, mouse, rat BHMT

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: BHMT (NM_001713)
    Sino Biological Human cDNA Clone for BHMT
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BHMT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BHMT

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BHMT


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BHMT1_HUMAN, Q93088: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus2
    vacuole2
    endoplasmic reticulum1
    extracellular1
    lysosome1
    mitochondrion1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0043234protein complex IEA--

    BHMT for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for BHMT About    
    See pathways by source

    SuperPathContained pathways About
    1One carbon pool by folate
    One Carbon Metabolism0.53
    Methionine metabolism0.35
    Trans-sulfuration and one carbon metabolism0.43
    methionine salvage0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Sulfur amino acid metabolism
    Sulfur amino acid metabolism0.35
    Cysteine and methionine metabolism0.35
    4Glycine, serine and threonine metabolism
    Glycine, serine and threonine metabolism
    glycine betaine degradation0.00
    5Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for BHMT
        Methionine metabolism

    4 BioSystems Pathways for BHMT
        One Carbon Metabolism
    methionine salvage
    Trans-sulfuration and one carbon metabolism
    glycine betaine degradation


    1 Reactome Pathway for BHMT
        Sulfur amino acid metabolism


    3 Kegg Pathways  (Kegg details for BHMT):
        Glycine, serine and threonine metabolism
    Cysteine and methionine metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: BHMT1_HUMAN, Q93088
    Pathway: Amine and polyamine degradation; betaine degradation; sarcosine from betaine: step 1/2
    Pathway: Amino-acid biosynthesis; L-methionine biosynthesis via de novo pathway; L-methionine from L-homocysteine
    (BhmT route): step 1/1


    BHMT for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including BHMT: 

              Nephrotoxicity in human mouse rat
              Amino Acid Metabolism II in human mouse rat
              Amino Acid Metabolism I in human mouse rat
              Hepatotoxicity in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for BHMT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for BHMT (Q930882, 3 ENSP000002743534) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BBS2Q9BXC93, ENSP000002451574I2D: score=1 STRING: ENSP00000245157
    NR3C1P041503, ENSP000002315094I2D: score=1 STRING: ENSP00000231509
    BBS4Q96RK43, ENSP000002680574I2D: score=1 STRING: ENSP00000268057
    ALDH16A1Q8IZ833I2D: score=1 
    BBS1Q8NFJ93I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000096sulfur amino acid metabolic process TAS--
    GO:0006479protein methylation NAS10075673
    GO:0006579amino-acid betaine catabolic process IEA--
    GO:0009086methionine biosynthetic process IEA--
    GO:0010243response to organonitrogen compound IEA--

    BHMT for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BHMT (BHMT1)

    9 HMDB Compounds for BHMT    About this table
    CompoundSynonyms CAS #PubMed Ids
    Betaine(Carboxymethyl)trimethylammonium hydroxide inner salt (see all 31)107-43-7--
    Dimethylglycine(Dimethylamino)acetate (see all 9)1118-68-9--
    Homocysteine(+-)-homocysteine (see all 22)454-29-5--
    L-Methionine(2S)-2-amino-4-(methylsulfanyl)butanoic acid (see all 54)63-68-3--
    N1-AcetylspermineN'-Acetylspermine (see all 6)25593-72-0--
    NorspermidineN-(3-aminopropyl)-1,3-Propanediamine (see all 28)56-18-8--
    Putrescine1,4-Butanediamine (see all 8)110-60-1--
    Spermidine1,5,10-Triazadecane (see all 15)124-20-9--
    Spermine1,5,10,14-Tetraazatetradecane (see all 18)71-44-3--

    3 DrugBank Compounds for BHMT    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Methionine(S)-2-amino-4-(methylthio)butanoic acid (see all 6)63-68-3targetproduct of17513393 17389618 16396637 16920841 17350061
    Citric Acid-- 77-92-9target--17139284 17016423
    S-(D-Carboxybutyl)-L-Homocysteine-- --target--17139284 17016423

    Selected Novoseek inferred chemical compound relationships for BHMT gene (see all 15)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dimethylglycine 94.3 17 11380830 (2), 15122900 (1), 16038618 (1), 18230605 (1) (see all 8)
    betaine 90.8 43 18230605 (4), 16038618 (2), 17218476 (2), 17175148 (2) (see all 22)
    homocysteine 86.4 80 15122900 (3), 15006639 (3), 16789755 (3), 17086380 (3) (see all 30)
    methionine 81.3 64 10075673 (5), 15122900 (2), 17376725 (2), 8798461 (1) (see all 27)
    cystathionine 79.3 8 11131452 (1), 14752013 (1), 1692235 (1), 1445498 (1) (see all 6)
    trigonelline 71.6 1 15006639 (1)
    choline 60.9 6 10075673 (2), 17885002 (1), 11087663 (1), 11223523 (1)
    folate 60.8 9 17035141 (2), 15941890 (1), 14752013 (1), 17389618 (1) (see all 5)
    s-adenosylmethionine 54.7 8 8836329 (2), 16953798 (2), 18230605 (1)
    vitamin b6 48.1 1 17284634 (1)



    BHMT for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for BHMT gene: 
    NM_001713.2  

    Unigene Cluster for BHMT:

    Betaine--homocysteine S-methyltransferase
    Hs.80756  [show with all ESTs]
    Unigene Representative Sequence: NM_001713
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000274353(uc003kfu.4 uc011cti.2) ENST00000520335 ENST00000520703
    ENST00000524080 ENST00000523508 ENST00000521279
    miRNA
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    Primer
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      QuantiFast Probe-based Assays in human, mouse, rat BHMT

    Additional mRNA sequence: 

    AK298308.1 AK303780.1 AK315224.1 BC012616.1 U50929.1 

    13 DOTS entries:

    DT.95366674  DT.417066  DT.120889506  DT.120889227  DT.417067  DT.100748739  DT.120889441  DT.91756897 
    DT.100748736  DT.417068  DT.120889264  DT.65284012  DT.120889290 

    Selected AceView cDNA sequences (see all 138):

    AI244216 AI866524 N69529 AL531105 R98132 BM718102 AI373376 AV661571 
    BM722555 AI244533 BM678994 AI133658 BM680551 BM722481 CR620701 AI299252 
    BC012616 BM714863 CB148997 CB142728 AA983313 N68596 BG400793 AL531106 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    BHMT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGCTTTCTA
    BHMT Expression
    About this image


    BHMT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Hepatocytes Liver Lobule
             Liver Lobule
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Granulosa Cells Primary Follicle
             Oviduct
     
     Testis (Reproductive System)
             Sertoli cells Seminiferous Tubules
     
     Inner Cell Mass (Early Embryonic Tissues)
             Inner Cell Mass Cells Inner Cell Mass
     
     Kidney (Urinary System)
    BHMT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BHMT Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.80756

    UniProtKB/Swiss-Prot: BHMT1_HUMAN, Q93088
    Tissue specificity: Found exclusively in liver and kidney

        Pathway & Disease-focused RT2 Profiler PCR Arrays including BHMT: 
              Nephrotoxicity in human mouse rat
              Amino Acid Metabolism II in human mouse rat
              Amino Acid Metabolism I in human mouse rat
              Hepatotoxicity in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BHMT

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for BHMT gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bhmt1 , 5 betaine-homocysteine methyltransferase1, 5 88.07(n)1
    94.57(a)1
      13 (47.87 cM)5
    121161  NM_016668.31  NP_057877.11 
     936168915 
    chicken
    (Gallus gallus)
    Aves BHMT1 betaine--homocysteine S-methyltransferase 78.96(n)
    86.87(a)
      416371  XM_414685.3  XP_414685.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    83(a)
    1 → many
    2(12969460-12974630)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.211392 Xenopus laevis transcribed sequence with moderate similarity more 75.52(n)    BU900482.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bhmt1 betaine-homocysteine methyltransferase 70.59(n)
    78.2(a)
      322228  NM_001012480.1  NP_001012498.1 


    ENSEMBL Gene Tree for BHMT (if available)
    TreeFam Gene Tree for BHMT (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BHMT gene
    BHMT22  
    1 SIMAP similar gene for BHMT using alignment to 2 protein entries:     BHMT1_HUMAN (see all proteins):
    BHMT2

    BHMT for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BHMT (see all 487)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs356392431,2
    C--78411210(+) TAAGA-/AGACTAGT 1 -- int11Minor allele frequency- AGA:0.00NA 2
    rs1995743461,2
    C--78411211(-) GTCTTA/CTTACT 1 -- int10--------
    rs1113786721,2
    F--78417869(+) AAGCGG/ATTCTC 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs563045071,2
    C--78420286(+) AATGC-/AAAAAA 1 -- int11Minor allele frequency- A:0.00NA 2
    rs350646271,2
    C--78421283(+) AAAAGA/-AGATG 1 -- int11Minor allele frequency- -:0.00NA 2
    rs665012961,2
    C--78424189(+) AAAAAA/-TTAGC 1 -- int12Minor allele frequency- -:0.25NA CSA 4
    rs672577871,2
    C--78424353(+) AAAAA-/AA    
       
    /AAAA
    AAAAA
    1 -- int11NA 2
    rs731135591,2
    C,F--78426492(+) GTATTA/GATGTG 1 -- int12Minor allele frequency- G:0.04WA 120
    rs6004731,2
    C,F,H--78698506(-) AAGAAA/CAAACA 1 -- us2k1 tfbs311Minor allele frequency- C:0.42NS EA NA WA 786
    rs1854163001,2
    --78698511(+) GTTCTC/TGGAGA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for BHMT (78407602 - 78428113 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for BHMT:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv4892CNV Insertion18451855
    nsv512853CNV Insertion21212237
    esv272460CNV Insertion20981092
    esv1010320CNV Insertion20482838
    nsv519156CNV Gain19592680
    nsv525398CNV Gain19592680

    Human Gene Mutation Database (HGMD): BHMT
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BHMT
    DNA2.0 Custom Variant and Variant Library Synthesis for BHMT

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602888    OMIM disorders: --

    Selected diseases for BHMT (see all 40):    
    About MalaCards
    placental abruption    hyperhomocysteinemia    cleft lip +/- cleft palate    hepatopulmonary syndrome
    orofacial cleft    spina bifida    homocystinuria    abdominal aortic aneurysm
    congenital heart defect    cleft lip    cleft palate    liver cirrhosis
    follicular lymphoma    vascular disease    neural tube defects    uremia
    aortic aneurysm    bardet-biedl syndrome    diffuse large b-cell lymphoma    lung cancer susceptibility

    2 diseases from the University of Copenhagen DISEASES database for BHMT:
    Hyperhomocysteinemia     Homocystinuria

    BHMT for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for BHMT gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperhomocysteinemia 70 9 11073719 (4), 11380830 (2), 20069651 (2)
    homocystinuria 60.6 2 15006639 (1)
    vascular diseases 43.5 3 11073719 (2)
    spina bifida 42.5 10 15887275 (3), 19493349 (2), 12749058 (1)
    cardiovascular diseases 17.4 3 17086380 (1), 12818402 (1)
    hepatocellular carcinoma 14.7 2 11131452 (1)
    liver cirrhosis 9.68 1 11131452 (1)
    renal failure chronic 7.02 2 15006639 (1)

    Genetic Association Database (GAD): BHMT
    Human Genome Epidemiology (HuGE) Navigator: BHMT (49 documents)

    Export disorders for BHMT gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for BHMT gene, integrated from 10 sources (see all 130):
    (articles sorted by number of sources associating them with BHMT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Betaine-homocysteine methyltransferase expression in porcine and human tissues and chromosomal localization of the human gene. (PubMed id 9281325)1, 2, 3, 9 Sunden S.L.F....Garrow T.A. (Arch. Biochem. Biophys. 1997)
    2. Investigations of a common genetic variant in betaine-homocysteine methyltransferase (BHMT) in coronary artery disease. (PubMed id 12818402)1, 2, 4, 9 Weisberg I.S.... Rozen R. (Atherosclerosis 2003)
    3. Purification, kinetic properties, and cDNA cloning of mammalian betaine-homocysteine methyltransferase. (PubMed id 8798461)1, 2, 3, 9 Garrow T.A. (J. Biol. Chem. 1996)
    4. Polymorphisms in methionine synthase reductase and betaine-homocysteine S-methyltransferase genes: risk of placental abruption. (PubMed id 17376725)1, 4, 9 Ananth C.V....Rozen R.R. (Mol. Genet. Metab. 2007)
    5. Interaction between dietary methionine and methyl donor intake on rat liver betaine-homocysteine methyltransferase gene expression and organization of the human gene. (PubMed id 10075673)1, 2, 9 Park E.I. and Garrow T.A. (J. Biol. Chem. 1999)
    6. Common variant in betaine-homocysteine methyltransferase (BHMT) and risk for spina bifida. (PubMed id 12749058)1, 4, 9 Morin I....Rozen R. (Am. J. Med. Genet. A 2003)
    7. Betaine-homocysteine methyltransferase: zinc in a distorted barrel. (PubMed id 12220488)1, 2, 9 Evans J.C.... Ludwig M.L. (Structure 2002)
    8. Human betaine-homocysteine methyltransferase is a zinc metalloenzyme. (PubMed id 9681996)1, 2, 9 Millian N.S. and Garrow T.A. (Arch. Biochem. Biophys. 1998)
    9. Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. (PubMed id 17035141)1, 4, 9 Boyles A.L....Speer M.C. (Environ. Health Perspect. 2006)
    10. 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects. (PubMed id 19493349)1, 4, 9 Shaw G.M....Finnell R.H. (BMC Med. Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 635 HGNC: 1047 AceView: BHMT Ensembl:ENSG00000145692 euGenes: HUgn635
    ECgene: BHMT Kegg: 635 H-InvDB: BHMT

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for BHMT Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BHMT gene:
    Search GeneIP for patents involving BHMT

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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