Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

DMGDH Gene

protein-coding   GIFtS: 56
GCID: GC05M078293

Dimethylglycine Dehydrogenase

  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
Dimethylglycine Dehydrogenase1 2
ME2GLYDH2 3
DMGDHD2 5
Dimethylglycine Dehydrogenase, Mitochondrial2
EC 1.5.8.43

External Ids:    HGNC: 244751   Entrez Gene: 299582   Ensembl: ENSG000001328377   OMIM: 6058495   UniProtKB: Q9UI173   

Export aliases for DMGDH gene to outside databases

Previous GC identifers: GC05M077099 GC05M078530 GC05M078332 GC05M078377 GC05M078329 GC05M073499


(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 DMGDH Gene:
This gene encodes an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of
dimethylglycine to form sarcosine. The enzyme is found as a monomer in the mitochondrial matrix, and uses flavin
adenine dinucleotide and folate as cofactors. Mutation in this gene causes dimethylglycine dehydrogenase
deficiency, characterized by a fishlike body odor, chronic muscle fatigue, and elevated levels of the muscle form
of creatine kinase in serum. Alternative splicing results in multiple transcript variants. (provided by RefSeq,
Jul 2013)

GeneCards Summary for DMGDH Gene: 
DMGDH (dimethylglycine dehydrogenase) is a protein-coding gene. Diseases associated with DMGDH include dimethylglycine dehydrogenase deficiency, and sarcosinemia, and among its related super-pathways are Metabolism. GO annotations related to this gene include electron carrier activity and dimethylglycine dehydrogenase activity. An important paralog of this gene is PDPR.




(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  NC_018916.2  NT_006713.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DMGDH gene promoter:
         AML1a   Pax-5   Pax-2   Pax-2a   Tal-1beta   AREB6   MZF-1   Pax-2b   ARP-1   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDMGDH promoter sequence
   Search SABiosciences Chromatin IP Primers for DMGDH

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


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

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

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M078293:  view genomic region     (about GC identifiers)

Start:
78,293,429 bp from pter      End:
78,531,861 bp from pter
Size:
238,433 bases      Orientation:
minus 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: M2GD_HUMAN, Q9UI17 (See protein sequence)
Recommended Name: Dimethylglycine dehydrogenase, mitochondrial precursor  
Size: 866 amino acids; 96811 Da
Cofactor: Binds 1 FAD covalently per monomer
Subunit: Monomer
Subcellular location: Mitochondrion
Secondary accessions: B2RBN0

Explore the universe of human proteins at neXtProt for DMGDH: NX_Q9UI17

Explore proteomics data for DMGDH at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UI17

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

    DMGDH Protein Expression
    REFSEQ proteins: NP_037523.2  
    ENSEMBL proteins: 
     ENSP00000255189   ENSP00000430972   ENSP00000427834   ENSP00000428995   ENSP00000430133  
     ENSP00000428092   ENSP00000369667   ENSP00000439478  

    Human Recombinant Protein Products for DMGDH: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for DMGDH
    GenScript Custom Purified and Recombinant Proteins Services for DMGDH
    Novus Biologicals DMGDH Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DMGDH 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion ----
    GO:0005759mitochondrial matrix NAS10767172

    DMGDH for ontologies           About GeneDecksing



    DMGDH Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for DMGDH
    GenScript Custom Superior Antibodies Services for DMGDH
    Novus Biologicals DMGDH Antibodies
    Abcam antibodies for DMGDH
    Cloud-Clone Corp. Antibodies for DMGDH 
    Search ThermoFisher Antibodies for DMGDH
    LSBio Antibodies in human, mouse, rat for DMGDH 

    Assay Products for DMGDH: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for DMGDH
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for DMGDH
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for DMGDH 
    Cloud-Clone Corp. CLIAs for DMGDH


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR006076 FAD-dep_OxRdtase
     IPR006222 GCV_T_N
     IPR027266 TrmE/GcvT_dom1
     IPR013977 GCV_T_C

    Graphical View of Domain Structure for InterPro Entry Q9UI17

    ProtoNet protein and cluster: Q9UI17

    1 Blocks protein domain: IPB006222 Glycine cleavage T protein (aminomethyl transferase)

    UniProtKB/Swiss-Prot: M2GD_HUMAN, Q9UI17
    Similarity: Belongs to the GcvT family


    DMGDH 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: M2GD_HUMAN, Q9UI17
    Catalytic activity: N,N-dimethylglycine + electron-transfer flavoprotein + H(2)O = sarcosine + formaldehyde +
    reduced electron-transfer flavoprotein

         Enzyme Number (IUBMB): EC 1.5.8.41

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004047aminomethyltransferase activity IEA--
    GO:0009055electron carrier activity NAS10767172
    GO:0016491oxidoreductase activity ----
    GO:0047865dimethylglycine dehydrogenase activity IMP11231903
         
    DMGDH for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for DMGDH:
     Increased number of cells in m 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for DMGDH 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DMGDH

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

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DMGDH
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate DMGDH
    SwitchGear 3'UTR luciferase reporter plasmidDMGDH 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for DMGDH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DMGDH

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for DMGDH
    Sirion Biotech Customized adenovirus for overexpression of DMGDH

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for DMGDH (see all 6)
    OriGene ORF clones in mouse, rat for DMGDH
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: DMGDH (NM_013391)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DMGDH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DMGDH
    Sirion Biotech Customized lentivirus for stable overexpression of DMGDH 
                         Customized lentivirus expression plasmids for stable overexpression of DMGDH 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for DMGDH
    Search LifeMap BioReagents cell lines for DMGDH
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DMGDH


    (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 DMGDH About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolic pathways0.40
    2glycine betaine degradation
    glycine betaine degradation
    3Glycine, serine and threonine metabolism
    Glycine, serine and threonine metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for DMGDH
        glycine betaine degradation


    2         Kegg Pathways  (Kegg details for DMGDH):
        Glycine, serine and threonine metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: M2GD_HUMAN, Q9UI17
    Pathway: Amine and polyamine degradation; betaine degradation; sarcosine from betaine: step 2/2


    DMGDH for pathways           About GeneDecksing

    Interactions:

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

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

    5 Interacting proteins for DMGDH (ENSP000002551894) via UniProtKB, MINT, STRING, and/or I2D

    InteractantInteraction Details
    GeneCardExternal ID(s)
    BHMTENSP000002743534STRING: ENSP00000274353
    BHMT2ENSP000002551924STRING: ENSP00000255192
    GNMTENSP000003618944STRING: ENSP00000361894
    PIPOXENSP000003177214STRING: ENSP00000317721
    SARDHENSP000003609384STRING: ENSP00000360938
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006544glycine metabolic process IMP10102904
    GO:0006546glycine catabolic process IEA--
    GO:0006579amino-acid betaine catabolic process IEA--
    GO:0019695choline metabolic process NAS10767172
    GO:0055114oxidation-reduction process ----

    DMGDH 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

    DMGDH for compounds           About GeneDecksing

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

    Browse Tocris compounds for DMGDH (M2GD)

    10 HMDB Compounds for DMGDH    About this table
    CompoundSynonyms CAS #PubMed Ids
    Dimethylglycine(Dimethylamino)acetate (see all 9)1118-68-9--
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    FormaldehydeAldeide formica (see all 16)50-00-0--
    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--
    Sarcosine(Methylamino)acetate (see all 15)107-97-1--
    Spermidine1,5,10-Triazadecane (see all 15)124-20-9--
    Spermine1,5,10,14-Tetraazatetradecane (see all 18)71-44-3--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    6 Novoseek inferred chemical compound relationships for DMGDH gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dimethylglycine 96.7 34 7543100 (3), 10102904 (2), 18937046 (2), 11231903 (2) (see all 9)
    sarcosine 91.1 11 14744856 (2), 7543100 (1), 18937046 (1), 10767172 (1) (see all 6)
    acyl-coa 56.2 4 14744856 (1), 15975918 (1)
    folate 55.7 3 10767172 (1)
    choline 52.5 5 18937046 (1), 11231903 (1), 10767172 (1)
    formaldehyde 41.6 3 10767172 (1)

    Search CenterWatch for drugs/clinical trials and news about DMGDH / M2GD

    (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 DMGDH gene: 
    NM_013391.3  

    Unigene Cluster for DMGDH:

    Dimethylglycine dehydrogenase
    Hs.655653  [show with all ESTs]
    Unigene Representative Sequence: NM_013391
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000255189(uc003kfs.3) ENST00000523732(uc011cte.1 uc011ctf.1 uc011ctg.1)
    ENST00000518477 ENST00000517853 ENST00000523201 ENST00000521052 ENST00000524206
    ENST00000520388 ENST00000518707 ENST00000520855 ENST00000380311 ENST00000540686

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DMGDH
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate DMGDH
    SwitchGear 3'UTR luciferase reporter plasmidDMGDH 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for DMGDH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DMGDH
    Clone
    Products:
         
    OriGene clones in human, mouse for DMGDH (see all 6)
    OriGene ORF clones in mouse, rat for DMGDH
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: DMGDH (NM_013391)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DMGDH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DMGDH
    Sirion Biotech Customized lentivirus for stable overexpression of DMGDH 
                         Customized lentivirus expression plasmids for stable overexpression of DMGDH 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for DMGDH
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DMGDH
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DMGDH
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DMGDH

    Additional mRNA sequence: 

    AF111858.1 AK057641.1 AK300894.1 AK303873.1 AK314736.1 BC022388.1 

    5 DOTS entries:

    DT.40188964  DT.92420422  DT.426884  DT.95351223  DT.120889278 

    24/38 AceView cDNA sequences (see all 38):

    AV655346 AA894649 AA894636 AI272051 AI628401 AF111858 AV654236 CA397896 
    AV654196 AI522285 AI302996 NM_013391 AA700406 BC022388 CB161521 AV654366 
    BG618241 BG429871 AI493003 AA746194 AK057641 BG533290 AI469206 BX103825 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for DMGDH    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18
    SP1:                                                                          -                                   -               
    SP2:                                                                          -                                                   
    SP3:        -                                                                                                                     
    SP4:                                                                                                                              


    ECgene alternative splicing isoforms for DMGDH

    (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

    DMGDH expression in normal human tissues (normalized intensities)      DMGDH embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACCTGGAAA
    DMGDH Expression
    About this image


    DMGDH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Neural Tube (Nervous System)
             Prosencephalon
     
     Liver (Hepatobiliary System)
     
     Kidney (Urinary System)

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

    SOURCE GeneReport for Unigene cluster: Hs.655653
        SABiosciences Expression via Pathway-Focused PCR Array including DMGDH: 
              Amino Acid Metabolism II in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for DMGDH
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DMGDH
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DMGDH
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DMGDH
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DMGDH

    (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 animals.

    Orthologs for DMGDH gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dmgdh1 , 5 dimethylglycine dehydrogenase precursor1, 5 85.86(n)1
    90.77(a)1
      13 (47.88 cM)5
    741291  NM_028772.31  NP_083048.11 
     936744335 
    chicken
    (Gallus gallus)
    Aves DMGDH1 dimethylglycine dehydrogenase 77.98(n)
    84(a)
      416370  XM_003642954.1  XP_003643002.1 
    lizard
    (Anolis carolinensis)
    Reptilia DMGDH6
    Uncharacterized protein
    76(a)
    1 ↔ 1
    2(12996509-13040565)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.55712 Transcribed sequence with moderate similarity to protein more 69.59(n)    57061398 
    worm
    (Caenorhabditis elegans)
    Secernentea Y37E3.171 , 3 Protein Y37E3.171 34(a)
    (best of 2)3
    48.45(n)1
    35.92(a)1
      I(2128592-2145763)3
    1717751  NM_001026574.21  NP_001021745.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DMGDH gene
    PDPR2  SARDH2  
    2 SIMAP similar genes for DMGDH using alignment to 7 protein entries:     M2GD_HUMAN (see all proteins):
    PDPR    SARDH

    DMGDH 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

    10/1638 SNPs in DMGDH are shown (see all 1638)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219083311,2,4
    C,FDMGDH deficiency (DMGDHD)4 pathogenic178644512(-) AATACA/GTTATG 2 H R mis11Minor allele frequency- G:0.00NA 4472
    rs1476311771,2
    C--73554852(+) ACTGT-/CTGAG 
            
    CTAAA
    1 -- int10--------
    rs754071371,2
    C--73554854(+) TGTCT-/GAGCT 
            
    AAAAT
    1 -- int10--------
    rs32153021,2
    C,F--73557526(+) CTTACAT/-GTTTC 1 -- int12Minor allele frequency- -:0.50CSA 4
    rs788836591,2
    C--73557912(+) CATACAT/-GTTAA 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs1133231771,2
    C,F--73558381(+) TTTGGG/AAGGCC 1 -- int11Minor allele frequency- A:0.50WA 2
    rs358541831,2
    C--78301875(+) TTTTTT/-ACTTC 1 -- int11Minor allele frequency- -:0.00NA 2
    rs2018453631,2
    C--78302038(+) TGTTAA/CAAAAA 1 -- int10--------
    rs561416331,2
    C--78302039(+) GTTAC-/AAAAAA 1 -- int11Minor allele frequency- A:0.00NA 2
    rs567696991,2
    C--78303316(+) CAACA-/TTTTTT 1 -- int10--------

    HapMap Linkage Disequilibrium report for DMGDH (78293429 - 78531861 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for DMGDH:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv462216CNV Loss19166990
    nsv882215CNV Gain21882294
    nsv519156CNV Gain19592680
    nsv462215CNV Gain19166990


    Human Gene Mutation Database (HGMD): DMGDH
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing DMGDH
    DNA2.0 Custom Variant and Variant Library Synthesis for DMGDH

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605849   
    OMIM disorders: 605850  
    UniProtKB/Swiss-Prot: M2GD_HUMAN, Q9UI17
  • DMGDH deficiency (DMGDHD) [MIM:605850]: Disorder characterized by fish odor, muscle fatigue with
    increased serum creatine kinase. Biochemically it is characterized by an increase of N,N-dimethylglycine (DMG) in
    serum and urine. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 3 diseases for DMGDH:    About MalaCards
    dimethylglycine dehydrogenase deficiency    sarcosinemia    orofacial cleft

    1 disease from the University of Copenhagen DISEASES database for DMGDH:
    Progressive myoclonus epilepsy

    DMGDH for disorders           About GeneDecksing

    Genetic Association Database (GAD): DMGDH
    Human Genome Epidemiology (HuGE) Navigator: DMGDH (7 documents)

    Export disorders for DMGDH 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 DMGDH gene, integrated from 9 sources (see all 24):
    (articles sorted by number of sources associating them with DMGDH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency. (PubMed id 11231903)1, 2, 3, 9 Binzak B.A.... Vockley J. (2001)
    2. Structure and analysis of the human dimethylglycine dehydrogenase gene. (PubMed id 10767172)1, 2, 3, 9 Binzak B.A.... Vockley J. (2000)
    3. Defect in dimethylglycine dehydrogenase, a new inborn error of metabolism: NMR spectroscopy study. (PubMed id 10102904)1, 2, 9 Moolenaar S.H.... Wevers R.A. (1999)
    4. 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, 4 Jugessur A....Murray J.C. (2010)
    5. Polymorphisms located in the region containing BHMT a nd BHMT2 genes as maternal protective factors for orofacial clefts. (PubMed id 20662904)1, 4 Mostowska A....Jagodzinski P.P. (2010)
    6. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    7. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    8. Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study. (PubMed id 19048631)1, 4 Boyles A.L....Lie R.T. (2009)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. Molecular basis of dimethylglycine dehydrogenase deficiency associated with pathogenic variant H109R. (PubMed id 18937046)1, 9 McAndrew R.P....Kim J.J. (2008)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 29958 HGNC: 24475 AceView: DMGDH Ensembl:ENSG00000132837 euGenes: HUgn29958
    ECgene: DMGDH Kegg: 29958 H-InvDB: DMGDH

    (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 DMGDH 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 DMGDH gene:
    Search GeneIP for patents involving DMGDH

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for DMGDH  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for DMGDH  
     OriGene qSTAR qPCR primer pairs in human, mouse for DMGDH   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for DMGDH   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for DMGDH   OriGene Custom Protein Services for DMGDH  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DMGDH
     QIAGEN SeqTarget long-range PCR primers for resequencing DMGDH
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DMGDH
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DMGDH
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DMGDH
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DMGDH
     GenScript Custom Purified and Recombinant Proteins Services for DMGDH GenScript cDNA clones with any tag delivered in your preferred vector for DMGDH
     GenScript Custom Assay Services for DMGDH GenScript Custom Superior Antibodies Services for DMGDH
     GenScript Custom overexpressing Cell Line Services for DMGDH CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in DMGDH promoter
     Search Chromatin IP Primers for DMGDH
     RT2 qPCR Primer Assay in human, mouse, rat DMGDH
     Search GNC Networks for DMGDH
     SABiosciences PCR Arrays including human, mouse, rat DMGDH
     Search Tocris compounds for DMGDH (M2GD)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     DMGDH antibodies
     DMGDH proteins
     Antibodies for DMGDH
     See all of Abcam's Antibodies, Kits and Proteins for DMGDH
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for DMGDH
     Antibodies for DMGDH
     ELISAs for DMGDH
     CLIAs for DMGDH
     Search LifeMap BioReagents cell lines for DMGDH
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DMGDH
     SwitchGear 3'UTR luciferase reporter plasmids for DMGDH
     SwitchGear Promoter luciferase reporter plasmids for DMGDH
     Search ThermoFisher Antibodies for DMGDH
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DMGDH
     inGenious Targeting Laboratory - Custom generated mouse model solutions for DMGDH
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DMGDH
    Customized:
     lentivirus for stable overexpression of DMGDH
     lentivirus expression plasmids for stable overexpression of DMGDH
     adenovirus for overexpression of DMGDH
     LSBio Antibodies in human, mouse, rat for DMGDH
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      DMGDH gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4