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Aliases for DMGDH Gene

Aliases for DMGDH Gene

  • Dimethylglycine Dehydrogenase 2 3 5
  • ME2GLYDH 3 4
  • EC 4
  • DMGDHD 3

External Ids for DMGDH Gene

Previous GeneCards Identifiers for DMGDH Gene

  • GC05M077099
  • GC05M078530
  • GC05M078332
  • GC05M078377
  • GC05M078329
  • GC05M073499
  • GC05M078293

Summaries for DMGDH Gene

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. Among its related pathways are Metabolism and Glycerophospholipid biosynthesis. GO annotations related to this gene include poly(A) RNA binding and electron carrier activity. An important paralog of this gene is AMT.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DMGDH Gene

Genomics for DMGDH Gene

Regulatory Elements for DMGDH Gene

Enhancers for DMGDH Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DMGDH on UCSC Golden Path with GeneCards custom track

Genomic Location for DMGDH Gene

78,997,564 bp from pter
79,236,038 bp from pter
238,475 bases
Minus strand

Genomic View for DMGDH Gene

Genes around DMGDH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DMGDH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DMGDH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DMGDH Gene

Proteins for DMGDH Gene

  • Protein details for DMGDH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Dimethylglycine dehydrogenase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B2RBN0
    • B4E1J9

    Protein attributes for DMGDH Gene

    866 amino acids
    Molecular mass:
    96811 Da
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Monomer.

    Alternative splice isoforms for DMGDH Gene


neXtProt entry for DMGDH Gene

Proteomics data for DMGDH Gene at MOPED

Post-translational modifications for DMGDH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DMGDH Gene

No data available for DME Specific Peptides for DMGDH Gene

Domains & Families for DMGDH Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the GcvT family.
  • Belongs to the GcvT family.
genes like me logo Genes that share domains with DMGDH: view

No data available for Gene Families for DMGDH Gene

Function for DMGDH Gene

Molecular function for DMGDH Gene

UniProtKB/Swiss-Prot CatalyticActivity:
N,N-dimethylglycine + electron-transfer flavoprotein + H(2)O = sarcosine + formaldehyde + reduced electron-transfer flavoprotein.

Enzyme Numbers (IUBMB) for DMGDH Gene

Gene Ontology (GO) - Molecular Function for DMGDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009055 electron carrier activity NAS 10767172
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with DMGDH: view
genes like me logo Genes that share phenotypes with DMGDH: view

Human Phenotype Ontology for DMGDH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for DMGDH Gene

Localization for DMGDH Gene

Subcellular locations from UniProtKB/Swiss-Prot for DMGDH Gene


Subcellular locations from

Jensen Localization Image for DMGDH Gene COMPARTMENTS Subcellular localization image for DMGDH gene
Compartment Confidence
mitochondrion 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for DMGDH Gene

Pathways & Interactions for DMGDH Gene

genes like me logo Genes that share pathways with DMGDH: view

UniProtKB/Swiss-Prot Q9UI17-M2GD_HUMAN

  • Pathway: Amine and polyamine degradation; betaine degradation; sarcosine from betaine: step 2/2.

Interacting Proteins for DMGDH Gene

Gene Ontology (GO) - Biological Process for DMGDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006579 amino-acid betaine catabolic process IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with DMGDH: view

No data available for SIGNOR curated interactions for DMGDH Gene

Drugs & Compounds for DMGDH Gene

(8) Drugs for DMGDH Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
spermine Approved Nutra Full agonist, Agonist 0
Dimethylglycine Experimental Pharma 0
Formaldehyde Experimental Pharma 78
putrescine Experimental Pharma Antagonist, Pore Blocker 0

(5) Additional Compounds for DMGDH Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (methylamino)-Acetate
  • (methylamino)-Acetic acid
  • (Methylamino)acetate
  • (Methylamino)acetic acid
  • (Methylamino)ethanoate
  • N'-Acetylspermine
  • N'-Monoacetylspermine
  • N(1)-Acetylspermine
  • N-(3-((4-((3-Aminopropyl)amino)butyl)amino)propyl)-Acetamide
  • N-Acetylspermine
  • -1,3-propanediamine
  • 1,7-Diamino-4-azaheptane
  • 3, 3'-Diaminodipropylamine
  • 3, {3'-Iminobis[propylamine]}
  • 3,3'-Diamino-Dipropylamine
  • Dihydrogen oxide
  • Steam
genes like me logo Genes that share compounds with DMGDH: view

Transcripts for DMGDH Gene

Unigene Clusters for DMGDH Gene

Dimethylglycine dehydrogenase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DMGDH Gene

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: -

Relevant External Links for DMGDH Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DMGDH Gene

mRNA expression in normal human tissues for DMGDH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DMGDH Gene

This gene is overexpressed in Liver (x22.1) and Kidney - Cortex (x9.3).

Protein differential expression in normal tissues from HIPED for DMGDH Gene

This gene is overexpressed in Liver, secretome (46.5) and Liver (16.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DMGDH Gene

SOURCE GeneReport for Unigene cluster for DMGDH Gene Hs.655653

genes like me logo Genes that share expression patterns with DMGDH: view

Protein tissue co-expression partners for DMGDH Gene

- Elite partner

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for DMGDH Gene

Orthologs for DMGDH Gene

This gene was present in the common ancestor of animals.

Orthologs for DMGDH Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia DMGDH 35
  • 91.64 (n)
  • 92.95 (a)
  • 92 (a)
(Canis familiaris)
Mammalia DMGDH 35
  • 90.65 (n)
  • 93.62 (a)
  • 94 (a)
(Mus musculus)
Mammalia Dmgdh 35
  • 85.86 (n)
  • 90.77 (a)
Dmgdh 16
Dmgdh 36
  • 89 (a)
(Pan troglodytes)
Mammalia DMGDH 35
  • 99.54 (n)
  • 99.54 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Dmgdh 35
  • 86.14 (n)
  • 91.47 (a)
(Monodelphis domestica)
Mammalia DMGDH 36
  • 83 (a)
(Ornithorhynchus anatinus)
Mammalia DMGDH 36
  • 83 (a)
(Gallus gallus)
Aves DMGDH 35
  • 77.19 (n)
  • 82.33 (a)
  • 80 (a)
(Anolis carolinensis)
Reptilia DMGDH 36
  • 76 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dmgdh 35
  • 73.9 (n)
  • 81.08 (a)
(Danio rerio)
Actinopterygii dmgdh 35
  • 66.83 (n)
  • 73.7 (a)
Dr.5571 35
dmgdh 36
  • 69 (a)
(Caenorhabditis elegans)
Secernentea Y106G6H.5 37
  • 26 (a)
Y37E3.17 37
  • 34 (a)
Y37E3.17 35
  • 48.13 (n)
  • 35.61 (a)
Y37E3.17 36
  • 32 (a)
Species with no ortholog for DMGDH:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DMGDH Gene

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

Paralogs for DMGDH Gene

Paralogs for DMGDH Gene

(2) SIMAP similar genes for DMGDH Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with DMGDH: view

Variants for DMGDH Gene

Sequence variations from dbSNP and Humsavar for DMGDH Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs121908331 DMGDH deficiency (DMGDHD) 79,055,859(-) AATAC(A/G)TTATG intron-variant, reference, missense
rs532964 - 79,044,463(-) CTATA(C/T)CTGAA intron-variant, nc-transcript-variant, reference, missense
rs1805073 - 79,030,927(-) AGTAG(C/G)GGTAA nc-transcript-variant, reference, missense
rs1805074 - 79,028,529(-) TGACC(C/T)CTGAA nc-transcript-variant, reference, missense
rs705418 -- 79,035,611(-) CCTGG(A/G)AGTCT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv882215 CNV Gain 21882294
nsv462215 CNV Gain 19166990
nsv462216 CNV Loss 19166990
nsv519156 CNV Gain 19592680

Variation tolerance for DMGDH Gene

Residual Variation Intolerance Score: 58.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.75; 95.78% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DMGDH Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DMGDH Gene

Disorders for DMGDH Gene

MalaCards: The human disease database

(3) MalaCards diseases for DMGDH Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
dimethylglycine dehydrogenase deficiency
  • dimethylglycine dehydrogenase
  • hypersarcosinemia
acute myocarditis
- elite association - COSMIC cancer census association via MalaCards
Search DMGDH in MalaCards View complete list of genes associated with diseases


  • 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. {ECO:0000269 PubMed:11231903}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DMGDH

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with DMGDH: view

No data available for Genatlas for DMGDH Gene

Publications for DMGDH Gene

  1. Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency. (PMID: 11231903) Binzak B.A. … Vockley J. (Am. J. Hum. Genet. 2001) 2 3 4 23 67
  2. Structure and analysis of the human dimethylglycine dehydrogenase gene. (PMID: 10767172) Binzak B.A. … Vockley J. (Mol. Genet. Metab. 2000) 2 3 23
  3. Molecular basis of dimethylglycine dehydrogenase deficiency associated with pathogenic variant H109R. (PMID: 18937046) McAndrew R.P. … Kim J.J. (J. Inherit. Metab. Dis. 2008) 3 23
  4. Defect in dimethylglycine dehydrogenase, a new inborn error of metabolism: NMR spectroscopy study. (PMID: 10102904) Moolenaar S.H. … Wevers R.A. (Clin. Chem. 1999) 3 23
  5. Genome-wide association study of selenium concentrations. (PMID: 25343990) Cornelis M.C. … He K. (Hum. Mol. Genet. 2015) 3

Products for DMGDH Gene

Sources for DMGDH Gene