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Tbio
DMGDH
Dimethylglycine dehydrogenase, mitochondrial

Protein Summary
Description
Catalyzes the demethylation of N,N-dimethylglycine to sarcosine. Also has activity with sarcosine in vitro. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000255189
  • ENSP00000255189
  • ENSG00000132837

Symbol
  • DMGDHD
  • ME2GLYDH
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
gene perturbation
0.78
protein domain
0.73
trait
0.61
tissue sample
0.59
disease
0.54


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 28.04   (req: < 5)
Gene RIFs: 10   (req: <= 3)
Antibodies: 167   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 28.04   (req: >= 5)
Gene RIFs: 10   (req: > 3)
Antibodies: 167   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 7
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (11)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
2
2
1
1.1
86.8
serum selenium measurement
1
1
1
80.8
plasma betaine measurement
1
1
1
77.7
angiographic measurement
1
1
1
77.7
salivary metabolite measurement
1
1
1
75.7
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
1
1.1
86.8
serum selenium measurement
1
80.8
plasma betaine measurement
1
77.7
angiographic measurement
1
77.7
salivary metabolite measurement
1
75.7
Protein Data Bank (1)
1 – 1 of 1
PDB Structure Id
Ligand
Method
Resolution (Å)
M.W. (kDa)
Pub Year
Title
PDB Structure Id
M.W.
Resolution
Pub Year
Pathways (26)
Choline catabolism (R-HSA-6798163)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 3 of 3
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Choline catabolism
Reactome
Metabolism
Reactome
Metabolism of amino acids and derivatives
Name
Explore in Pharos
Explore in Source
Choline catabolism
Metabolism
Metabolism of amino acids and derivatives
Protein-Protein Interactions (68)
1 – 10 of 68
GNMT
Tbio
Family: Enzyme
Novelty: 0.01472757
Score: 0.981
Data Source: STRINGDB
BHMT
Tchem
Family: Enzyme
Novelty: 0.00453508
Score: 0.976
Data Source: STRINGDB
PIPOX
Tbio
Family: Enzyme
Novelty: 0.04107707
Score: 0.943
Data Source: STRINGDB
SARDH
Tbio
Family: Enzyme
Novelty: 0.02703115
Score: 0.925
Data Source: STRINGDB
SHMT2
Tbio
Family: Enzyme
Novelty: 0.00234505
Score: 0.815
Data Source: STRINGDB
GCSH
Tbio
Novelty: 0.02101972
Score: 0.811
Data Source: STRINGDB
FMO3
Tbio
Family: Enzyme
Novelty: 0.00567911
Score: 0.811
Data Source: STRINGDB
FTCD
Tbio
Family: Enzyme
Novelty: 0.02266041
Score: 0.81
Data Source: STRINGDB
GLDC
Tbio
Family: Enzyme
Novelty: 0.00900467
Score: 0.805
Data Source: STRINGDB
CHDH
Tbio
Family: Enzyme
Novelty: 0.02147468
Score: 0.797
Data Source: STRINGDB
Publication Statistics
PubMed Score  28.04

PubMed score by year
PubTator Score  15.16

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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