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

BHMT2 Gene

protein-coding   GIFtS: 60
GCID: GC05P078401

betaine--homocysteine S-methyltransferase 2
 Explore 12 diseases affiliated with
BHMT2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for BHMT2    

Aliases
for BHMT2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Betaine--Homocysteine S-Methyltransferase 21 2 3
SMM-Hcy Methyltransferase2 3
EC 2.1.1.53 8
Betaine-Homocysteine Methyltransferase 22
S-Methylmethionine--Homocysteine S-Methyltransferase BHMT22

External Ids:    HGNC: 10481   Entrez Gene: 237432   Ensembl: ENSG000001328407   OMIM: 6059325   UniProtKB: Q9H2M33   

Export aliases for BHMT2 gene to outside databases

Previous GC identifers: GC05P077171 GC05P078602 GC05P078404 GC05P078449 GC05P073571


Summaries
for BHMT2 gene

(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 BHMT2:
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)

UniProtKB/Swiss-Prot: BHMT2_HUMAN, Q9H2M3
Function: Involved in the regulation of homocysteine metabolism. Converts homocysteine to methionine using
S-methylmethionine (SMM) as a methyl donor




Genomic Views
for BHMT2 gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_006713.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BHMT2 gene promoter:
         LHX3b/Lhx3b   Pax-5   POU3F1   FOXD1   MZF-1   POU2F1   POU2F1a   POU2F1b   LHX3a/Lhx3a   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: BHMT2 promoter sequence
   Search SABiosciences Chromatin IP Primers for BHMT2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BHMT2


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

Entrez Gene cytogenetic band: 5q13   Ensembl cytogenetic band:  5q14.1   HGNC cytogenetic band: 5q13

BHMT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BHMT2 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P078401:  view genomic region     (about GC identifiers)

Start:
 78,365,540 bp from pter      End:
 78,385,897 bp from pter
Size:
 20,358 bases      Orientation:
 plus strand

Proteins
for BHMT2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: BHMT2_HUMAN, Q9H2M3 (See protein sequence)
Recommended Name: S-methylmethionine--homocysteine S-methyltransferase BHMT2  
Size: 363 amino acids; 40354 Da
Cofactor: Binds 1 zinc ion per subunit
Subunit: Homotetramer (By similarity). May interact with PRNP
Sequence caution: Sequence=BAA90880.1; Type=Erroneous initiation;
Secondary accessions: B7Z516 Q9NXX7
Alternative splicing: 2 isoforms:  Q9H2M3-1   Q9H2M3-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BHMT2: NX_Q9H2M3

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H2M3

    • 4 DME Specific Peptides for BHMT2 (Q9H2M3)
     LEKRGYVKAG  LIAEYFEHVEEA  RAIAEELAPERGFLP  ATRWDIQKYAREAYN 

    BHMT2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001171476.1  NP_060084.2  

    ENSEMBL proteins: 
     ENSP00000255192   ENSP00000430278   ENSP00000428640   ENSP00000430155  

    Human Recombinant Protein Products: 
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    OriGene Purified Protein: BHMT2
    OriGene Protein Over-expression Lysate (see all 2): BHMT2
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    Novus Biologicals BHMT2 Proteins
    Novus Biologicals BHMT2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for BHMT2

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--


    BHMT2 for ontologies           About GeneDecksing



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    ThermoFisher Antibody for BHMT2

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    Uscn ELISAs and CLIAs for BHMT2

    Protein Domains /
    Families
    for BHMT2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    BHMT2 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR017226 Betaine-hCys_S-MeTrfase_BHMT
     IPR003726 S_MeTrfase

    Graphical View of Domain Structure for InterPro Entry Q9H2M3

    ProtoNet protein and cluster: Q9H2M3

    1 Blocks protein family: IPB003726 Homocysteine S-methyltransferase

    UniProtKB/Swiss-Prot: BHMT2_HUMAN, Q9H2M3
    Similarity: Contains 1 Hcy-binding domain


    Function
    for BHMT2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: BHMT2_HUMAN, Q9H2M3
    Function: Involved in the regulation of homocysteine metabolism. Converts homocysteine to methionine using
    S-methylmethionine (SMM) as a methyl donor
    Catalytic activity: Trimethylammonioacetate + L-homocysteine = dimethylglycine + L-methionine

    Enzyme Number (IUBMB): EC 2.1.1.51 2

    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate BHMT2:
    hsa-miR-34b hsa-miR-4309
    SwitchGear 3'UTR luciferase reporter plasmid: BHMT2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BHMT2 (see all 7)
    OriGene shRNA RFP: BHMT2
    OriGene siRNA: BHMT2
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    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for BHMT2

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BHMT2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008270zinc ion binding IEA--
    GO:0008898homocysteine S-methyltransferase activity IEA--
    GO:0047150betaine-homocysteine S-methyltransferase activity IEA--


    BHMT2 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for BHMT2:
     Increased G1 DNA content  Increased gamma-H2AX phosphory 


    Pathways & Interactions
    for BHMT2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Methionine metabolism
    		Methionine metabolism1.00
    		superpathway of methionine degradation0.38
    		Methionine metabolism1.00
    2glycine betaine degradation
    		glycine betaine degradation1.00
    3methionine salvage II (mammalia)
    		methionine salvage II (mammalia)1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for BHMT2
        Methionine metabolism


    1 GeneGo (Thomson Reuters) Pathway for BHMT2
        Methionine metabolism

    3 BioSystems Pathways for BHMT2 
        methionine salvage II (mammalia)
    superpathway of methionine degradation
    glycine betaine degradation


    UniProtKB/Swiss-Prot: BHMT2_HUMAN, Q9H2M3
    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


    BHMT2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BHMT2

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

    5 Interacting proteins for BHMT2 (ENSP000002551924) via UniProtKB, MINT, STRING, and/or I2D

    InteractantInteraction Details
    GeneCardExternal ID(s)
    DMGDHENSP000002551894STRING: ENSP00000255189
    MAT1AENSP000003612874STRING: ENSP00000361287
    MAT2AENSP000003031474STRING: ENSP00000303147
    MAT2BENSP000003254254STRING: ENSP00000325425
    SARDHENSP000003609384STRING: ENSP00000360938
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006579amino-acid betaine catabolic process IEA--
    GO:0009086methionine biosynthetic process IEA--


    BHMT2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for BHMT2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BHMT2

    8 HMDB Compounds for BHMT2    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--
    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--

    1 DrugBank Compound for BHMT2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Methionine(S)-2-amino-4-(methylthio)butanoic acid (see all 6)63-68-3targetproduct of17139284 17016423

    Search CenterWatch for drugs/clinical trials and news about BHMT2 

    Transcripts
    for BHMT2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for BHMT2 gene (2 alternative transcripts): 
    NM_001178005.1  NM_017614.4  

    Unigene Cluster for BHMT2:

    Betaine--homocysteine S-methyltransferase 2
    Hs.114172  [show with all ESTs]
    Unigene Representative Sequence: NM_017614
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000255192(uc003kft.3 uc011cth.2) ENST00000521567 ENST00000518666
    ENST00000518758 ENST00000519743 ENST00000523472 ENST00000523046

    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate BHMT2:
    hsa-miR-34b hsa-miR-4309
    SwitchGear 3'UTR luciferase reporter plasmid: BHMT2 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: BHMT2
    OriGene siRNA: BHMT2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BHMT2
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): BHMT2 (NM_017614)
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BHMT2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BHMT2

    Additional cDNA sequence: 

    AF257473.1 AK000008.1 AK298298.1 AK315520.1 BC020665.1 

    11 DOTS entries:

    DT.100751691  DT.309982  DT.92424399  DT.70104496  DT.110423  DT.100650053  DT.100751692  DT.120889390 
    DT.400495  DT.92042863  DT.92424400 

    24/97 AceView cDNA sequences (see all 97):

    AA745686 AI147545 AI000195 AI768626 AW024722 AA298923 AI913606 CB159385 
    AV660450 BC020665 C21016 AV720021 NM_017614 N70916 AA918097 AI201379 
    AW299252 AI446623 AA873795 N76012 AV718642 AI245388 BX115089 AI344621 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for BHMT2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10
    SP1:              -                             -                                       
    SP2:                                            -                                       
    SP3:                                                                                    
    SP4:              -                                                                     
    SP5:                                                                                    


    ECgene alternative splicing isoforms for BHMT2

    Expression
    for BHMT2 gene

    (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

    BHMT2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATGGCGGGTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    BHMT2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneZeugopod Growth PlateBone
    LiverLiver LobuleLiver
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See BHMT2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BHMT2

    SOURCE GeneReport for Unigene cluster: Hs.114172

    UniProtKB/Swiss-Prot: BHMT2_HUMAN, Q9H2M3
    Tissue specificity: Expressed in liver and kidney and at reduced levels in the brain, heart, and skeletal muscle

        SABiosciences Custom PCR Arrays for BHMT2
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    In Situ
    Assay Products:     
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    Orthologs
    for BHMT2 gene

    (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 BHMT2 gene from 3/15 species (see all 15)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves BHMT6
    		 Uncharacterized protein
    		 67(a)
    		 1 → many
    		 Z(21862264-21878141)
    lizard
    (Anolis carolinensis)    		 Reptilia BHMT6
    		 --
    		 68(a)
    		 1 → many
    		 2(12969460-12974630)
    zebrafish
    (Danio rerio)    		 Actinopterygii bhmt6
    		 betaine-homocysteine methyltransferase
    		 64(a)
    		 1 → many
    		 21(286522-291633)


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

    Paralogs
    for BHMT2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BHMT2 gene
    BHMT2  
    1 SIMAP similar gene for BHMT2 using alignment to 3 protein entries:     BHMT2_HUMAN (see all proteins):
    BHMT

    BHMT2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for BHMT2
    PGOHUM00000249356


    Genomic Variants
    for BHMT2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/429 NCBI SNPs in BHMT2 are shown (see all 429)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1117976691,2
    		--73569843(+) CCCAGT/CTAATT 1 -- int12Minor allele frequency- C:0.04CSA WA 120
    rs1126849171,2
    		--73570107(+) TTGCTT/CTACAA 1 -- int12Minor allele frequency- C:0.06CSA WA 120
    rs788410141,2
    		C,F,--73570304(+) GAGACA/GAACCT 1 -- int11Minor allele frequency- G:0.07WA 118
    rs756062391,2
    		C,--73570630(+) ACAGAC/TACACA 1 -- int12Minor allele frequency- T:0.13NA 122
    rs68774741,2
    		C,F,A,H,--73570746(+) aactgT/Gtgcta 1 -- int111Minor allele frequency- G:0.04NS EA NA CSA WA 1766
    rs587763381,2
    		C,--73570874(+) AATATT/CGACAG 1 -- int12Minor allele frequency- C:0.01NA 482
    rs576407731,2
    		C,--73571137(+) CTTTAT/AAATTA 1 -- int13Minor allele frequency- A:0.02WA 600
    rs577390601,2
    		C,--73571392(+) GCCGAG/CGCCGA 1 -- us2k12Minor allele frequency- C:0.01CSA 481
    rs592814541,2
    		C,F,--73571646(+) CCCGGC/TGTCCA 1 -- us2k12Minor allele frequency- T:0.02WA 598
    rs615225421,2
    		C,--73571710(+) GCCTCA/GATTTT 1 -- us2k13Minor allele frequency- G:0.02CSA WA 600

    HapMap Linkage Disequilibrium report for BHMT2 (78365540 - 78385897 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for BHMT2: --

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    Disorders / Diseases
    for BHMT2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    BHMT2 for disorders           About GeneDecksing

    OMIM gene information: 605932    OMIM disorders: --

    12 diseases for BHMT2:    About MalaCards
    homocysteine    spina bifida    abdominal aortic aneurysm    birth defects
    aortic aneurysm    orofacial cleft    vascular disease    cleft lip
    cleft palate    intrahepatic cholangiocarcinoma    cholangiocarcinoma    atherosclerosis

    2 diseases from the University of Copenhagen DISEASES database for BHMT2:
    Cleft lip     Cleft palate
    Genetic Association Database (GAD): BHMT2
    Human Genome Epidemiology (HuGE) Navigator: BHMT2 (20 documents)

    Export disorders for BHMT2 gene to outside databases

    Publications
    for BHMT2 gene

    (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 BHMT2 gene, integrated from 9 sources (see all 28):
    (articles sorted by number of sources associating them with BHMT2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Betaine-homocysteine S-methyltransferase-2 is an S-methylmethionine-homocysteine methyltransferase. (PubMed id 18230605)1, 2, 3, 9 Szegedi S.S....Garrow T.A. (2008)
    2. Betaine-homocysteine methyltransferase-2: cDNA cloning, gene sequence, physical mapping, and expression of the human and mouse genes. (PubMed id 11087663)1, 2, 3, 9 Chadwick L.H.... Nadeau J.H. (2000)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Human betaine-homocysteine methyltransferase (BHMT) and BHMT2: common gene sequence variation and functional characterization. (PubMed id 18457970)1, 9 Li F....Weinshilboum R.M. (2008)
    6. Are the betaine-homocysteine methyltransferase (BHMT and BHMT2) genes risk factors for spina bifida and orofacial clefts? (PubMed id 15887275)4, 9 Zhu H....Finnell R.H. (2005)
    7. New evidence for the role of cystathionine beta-synth ase in non-syndromic cleft lip with or without cleft palate. (PubMed id 21564312)1 Martinelli M....Scapoli L. (2011)
    8. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    9. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1 Jugessur A....Murray J.C. (2010)
    10. Polymorphisms located in the region containing BHMT a nd BHMT2 genes as maternal protective factors for orofacial clefts. (PubMed id 20662904)1 Mostowska A....Jagodzinski P.P. (2010)

    External Searches for BHMT2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing BHMT2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23743 HGNC: 1048 AceView: BHMT2 Ensembl:ENSG00000132840 euGenes: HUgn23743
    ECgene: BHMT2 H-InvDB: BHMT2

    Other Databases showing BHMT2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing BHMT2 gene

    (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 BHMT2 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for BHMT2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for BHMT2 gene:
    Search GeneIP for patents involving BHMT2

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



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