Free for academic non-profit institutions. Other users need a Commercial license

Aliases for DMGDH Gene

Aliases for DMGDH Gene

  • Dimethylglycine Dehydrogenase 2 3
  • ME2GLYDH 3 4
  • DMGDHD 3 6
  • Dimethylglycine Dehydrogenase, Mitochondrial 3
  • EC 1.5.8.4 4

External Ids for DMGDH Gene

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 Glycine, serine and threonine metabolism. GO annotations related to this gene include electron carrier activity and dimethylglycine dehydrogenase activity. An important paralog of this gene is SARDH.

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

Genomic Location for DMGDH Gene

Start:
78,997,564 bp from pter
End:
79,236,038 bp from pter
Size:
238,475 bases
Orientation:
Minus strand

Genomic View for DMGDH Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DMGDH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DMGDH Gene

Regulatory Elements for DMGDH Gene

Proteins for DMGDH Gene

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

    Protein Symbol:
    Q9UI17-M2GD_HUMAN
    Recommended name:
    Dimethylglycine dehydrogenase, mitochondrial
    Protein Accession:
    Q9UI17
    Secondary Accessions:
    • B2RBN0
    • B4E1J9

    Protein attributes for DMGDH Gene

    Size:
    866 amino acids
    Molecular mass:
    96811 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692; Note=Binds 1 FAD covalently per monomer.;
    Quaternary structure:
    • Monomer

    Alternative splice isoforms for DMGDH Gene

    UniProtKB/Swiss-Prot:

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 for DMGDH Gene

Graphical View of Domain Structure for InterPro Entry

Q9UI17

UniProtKB/Swiss-Prot:

M2GD_HUMAN
Family:
  • Belongs to the GcvT family.:
    • Q9UI17
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:0004047 aminomethyltransferase activity --
GO:0009055 electron carrier activity NAS 10767172
GO:0016491 oxidoreductase activity --
GO:0044822 poly(A) RNA binding IDA 22658674
GO:0047865 dimethylglycine dehydrogenase activity IMP 11231903
genes like me logo Genes that share ontologies with DMGDH: view

Phenotypes for DMGDH Gene

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

miRNA for DMGDH Gene

miRTarBase miRNAs that target DMGDH

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

Localization for DMGDH Gene

Subcellular locations from UniProtKB/Swiss-Prot for DMGDH Gene

Mitochondrion.

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for DMGDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005739 mitochondrion --
GO:0005759 mitochondrial matrix NAS 10767172
genes like me logo Genes that share ontologies with DMGDH: view

Pathways for DMGDH Gene

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

Pathways by source for DMGDH Gene

1 BioSystems pathway for DMGDH Gene

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:0006544 glycine metabolic process IMP 10102904
GO:0006546 glycine catabolic process --
GO:0006579 amino-acid betaine catabolic process IEA --
GO:0019695 choline metabolic process NAS 10767172
GO:0032259 methylation --
genes like me logo Genes that share ontologies with DMGDH: view

Compounds for DMGDH Gene

(10) HMDB Compounds for DMGDH Gene

Compound Synonyms Cas Number PubMed IDs
Dimethylglycine
  • (Dimethylamino)acetate
1118-68-9
FAD
  • 1H-Purin-6-amine flavin dinucleotide
146-14-5
Formaldehyde
  • Aldeide formica
50-00-0
N1-Acetylspermine
  • N'-Acetylspermine
25593-72-0
Norspermidine
  • N-(3-aminopropyl)-1,3-Propanediamine
56-18-8

(6) Novoseek inferred chemical compound relationships for DMGDH Gene

Compound -log(P) Hits PubMed IDs
dimethylglycine 96.7 15
sarcosine 91.1 7
acyl-coa 56.2 2
folate 55.7 1
choline 52.5 3
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: -
SP4:

Relevant External Links for DMGDH Gene

GeneLoc Exon Structure for
DMGDH
ECgene alternative splicing isoforms for
DMGDH

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 (22.1) and Kidney - Cortex (9.3).

Integrated Proteomics: protein expression 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 expressions with DMGDH: view

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
chimpanzee
(Pan troglodytes)
Mammalia DMGDH 35
  • 99.54 (n)
  • 99.54 (a)
DMGDH 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DMGDH 35
  • 91.64 (n)
  • 92.95 (a)
DMGDH 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DMGDH 35
  • 90.65 (n)
  • 93.62 (a)
DMGDH 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dmgdh 35
  • 85.86 (n)
  • 90.77 (a)
Dmgdh 16
Dmgdh 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DMGDH 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DMGDH 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dmgdh 35
  • 86.14 (n)
  • 91.47 (a)
chicken
(Gallus gallus)
Aves DMGDH 35
  • 77.19 (n)
  • 82.33 (a)
DMGDH 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DMGDH 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dmgdh 35
  • 73.9 (n)
  • 81.08 (a)
zebrafish
(Danio rerio)
Actinopterygii dmgdh 35
  • 66.83 (n)
  • 73.7 (a)
dmgdh 36
  • 69 (a)
OneToOne
Dr.5571 35
worm
(Caenorhabditis elegans)
Secernentea Y37E3.17 35
  • 48.13 (n)
  • 35.61 (a)
Y37E3.17 36
  • 32 (a)
OneToOne
Y37E3.17 37
  • 34 (a)
Y106G6H.5 37
  • 26 (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

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

Paralogs for DMGDH Gene

Paralogs for DMGDH Gene

Selected 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 MAF
rs28326 -- 79,000,031(+) ATATG(G/T)TGGAA intron-variant
rs32970 -- 79,001,383(+) GTCTC(A/G)AACTC intron-variant
rs32971 -- 79,005,033(+) AAGTC(C/T)TTGGG intron-variant
rs42418 -- 79,002,335(+) CCACC(C/G)AATAT intron-variant
rs96523 -- 78,999,549(+) AGGAT(A/G)GTCTC 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

Relevant External Links for DMGDH Gene

HapMap Linkage Disequilibrium report
DMGDH
Human Gene Mutation Database (HGMD)
DMGDH

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

Disorders for DMGDH Gene

(1) OMIM Diseases for DMGDH Gene (605849)

UniProtKB/Swiss-Prot

M2GD_HUMAN
  • 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.

(1) University of Copenhagen DISEASES for DMGDH Gene

Relevant External Links for DMGDH

Genetic Association Database (GAD)
DMGDH
Human Genome Epidemiology (HuGE) Navigator
DMGDH
genes like me logo Genes that share disorders with DMGDH: view

Publications for DMGDH Gene

  1. Structure and analysis of the human dimethylglycine dehydrogenase gene. (PMID: 10767172) Binzak B.A. … Vockley J. (Mol. Genet. Metab. 2000) 2 3 4 23
  2. 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
  3. 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 4 23
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study. (PMID: 19048631) Boyles A.L. … Lie R.T. (Genet. Epidemiol. 2009) 3 48

Products for DMGDH Gene

Sources for DMGDH Gene

Back to Top

Content