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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BHMT Gene

protein-coding   GIFtS: 67
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)
About This Section

Aliases
Betaine--Homocysteine S-Methyltransferase1 2
EC 2.1.1.53 8
Betaine Homocysteine Methyltransferase1
BHMT12
Betaine--Homocysteine S-Methyltransferase 12
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Cysteine and methionine metabolism and Metabolic pathways. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_006713.15  NC_018916.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for BHMT

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Cytoplasm
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q93088

  • 4/13 DME Specific Peptides for BHMT (Q93088) (see all 13)
     RQVADEG  PSMSKPD  IARQVAD  KLMKEGL 

    BHMT Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BHMT Protein Expression
    REFSEQ proteins: NP_001704.2  
    ENSEMBL proteins: 
     ENSP00000274353   ENSP00000428240  
    Reactome Protein details: Q93088
    Human Recombinant Protein Products for BHMT: 
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    Novus Biologicals BHMT Proteins
    Novus Biologicals BHMT Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for BHMT
    Cloud-Clone Corp. Proteins for BHMT 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    BHMT for ontologies           About GeneDecksing



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    LSBio Antibodies in human, mouse, rat for BHMT 

    Assay Products for BHMT: 
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    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)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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  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 - Custom generated mouse model solutions for BHMT 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for BHMT

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BHMT 
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    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate BHMT:
    hsa-miR-4307
    SwitchGear 3'UTR luciferase reporter plasmidBHMT 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BHMT


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for BHMT About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Cysteine and methionine metabolism
    Cysteine and methionine metabolism0.37
    Methionine metabolism0.32
    Sulfur amino acid metabolism0.37
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3One Carbon Metabolism
    One Carbon Metabolism0.53
    42-oxobutanoate degradation I
    superpathway of methionine degradation0.37
    5methionine salvage II (mammalia)
    methionine salvage II (mammalia)

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for BHMT
        Methionine metabolism


    1 GeneGo (Thomson Reuters) Pathway for BHMT
        Methionine metabolism

    4 BioSystems Pathways for BHMT
        One Carbon Metabolism
    methionine salvage II (mammalia)
    glycine betaine degradation
    superpathway of methionine degradation

    3        Reactome Pathways for BHMT
        Metabolism
    Sulfur amino acid metabolism
    Metabolism of amino acids and derivatives


    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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BHMT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/23 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
    BBS4Q96RK43, ENSP000002680574I2D: score=1 STRING: ENSP00000268057
    ALDH16A1Q8IZ833I2D: score=1 
    BBS1Q8NFJ93I2D: score=1 
    NR3C1P041503I2D: score=1 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    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:0034641cellular nitrogen compound metabolic process TAS--

    BHMT for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    BHMT for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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

    10/15 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)

    Search CenterWatch for drugs/clinical trials and news about BHMT / BHMT1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    Inhib. RNA
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    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 

    24/138 AceView cDNA sequences (see all 138):

    BM680551 AI866524 N69529 R98132 AI244533 BM678994 BM718102 BC012616 
    CB148997 BM714863 AI373376 CR620701 BM722481 BM722555 AI133658 AI299252 
    AV661571 AL531105 AI244216 CB142728 BG400793 BX951228 BG431904 BX118188 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BHMT expression in normal human tissues (normalized intensities)      BHMT embryonic expression: see
    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 
     5/8 selected tissues (see all 8) fully expand
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Hepatocytes Liver Lobule
             Liver Lobule
     
     Kidney (Urinary System)
             kidney ; cells in tubules   
     
     Melanocytes (Integumentary System)
             skin ; melanocytes   
     
     Inner Cell Mass (Early Embryonic Tissues)
             Inner Cell Mass Cells Inner Cell Mass
     
     Lower Urinary Tract (Urinary System)
             urinary bladder ; urothelial cells   

    See BHMT Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BHMT

    SOURCE GeneReport for Unigene cluster: Hs.80756

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

        SABiosciences Expression via Pathway-Focused 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

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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for BHMT gene from 5/15 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_414685.2  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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/487 SNPs in BHMT are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602888    OMIM disorders: --

    20/38 diseases for BHMT (see all 38):    About MalaCards
    placental abruption    hyperhomocysteinemia    hepatopulmonary syndrome    spina bifida
    orofacial cleft    cleft lip +/- cleft palate    homocystinuria    congenital heart defect
    abdominal aortic aneurysm    cleft palate    liver cirrhosis    follicular lymphoma
    vascular disease    esophageal adenocarcinoma    neural tube defects    aortic aneurysm
    uremia    diffuse large b-cell lymphoma    cleft lip    b-cell lymphomas

    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)
    About This Section

    PubMed articles for BHMT gene, integrated from 9 sources (see all 128):
    (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. (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. (2003)
    3. Purification, kinetic properties, and cDNA cloning of mammalian betaine-homocysteine methyltransferase. (PubMed id 8798461)1, 2, 3, 9 Garrow T.A. (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. (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. (1999)
    6. Common variant in betaine-homocysteine methyltransferase (BHMT) and risk for spina bifida. (PubMed id 12749058)1, 4, 9 Morin I....Rozen R. (2003)
    7. Betaine-homocysteine methyltransferase: zinc in a distorted barrel. (PubMed id 12220488)1, 2, 9 Evans J.C.... Ludwig M.L. (2002)
    8. Human betaine-homocysteine methyltransferase is a zinc metalloenzyme. (PubMed id 9681996)1, 2, 9 Millian N.S. and Garrow T.A. (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. (2006)
    10. 118 SNPs of folate-related genes and risks of spina b ifida and conotruncal heart defects. (PubMed id 19493349)1, 4, 9 Shaw G.M....Finnell R.H. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 635 HGNC: 1047 AceView: BHMT Ensembl:ENSG00000145692 euGenes: HUgn635
    ECgene: BHMT Kegg: 635 H-InvDB: BHMT

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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