DMGDH (dimethylglycine dehydrogenase)

2014-08-01  

Identity

HGNC
LOCATION
5q14.1
LOCUSID
ALIAS
DMGDHD,ME2GLYDH
FUSION GENES

Other Information

Locus ID:

NCBI: 29958
MIM: 605849
HGNC: 24475
Ensembl: ENSG00000132837

Variants:

dbSNP: 29958
ClinVar: 29958
TCGA: ENSG00000132837
COSMIC: DMGDH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000132837ENST00000255189Q9UI17
ENSG00000132837ENST00000517853E5RK15
ENSG00000132837ENST00000518477E5RG50
ENSG00000132837ENST00000521052E5RGI4
ENSG00000132837ENST00000523732Q8TCC6
ENSG00000132837ENST00000524206E5RGI4

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
Glycine, serine and threonine metabolismKEGGko00260
Glycine, serine and threonine metabolismKEGGhsa00260
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Choline catabolismREACTOMER-HSA-6798163

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
190486312009Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study.20
206348912010Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.18
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
257952132015Dimethylglycine Deficiency and the Development of Diabetes.16
206629042010Polymorphisms located in the region containing BHMT and BHMT2 genes as maternal protective factors for orofacial clefts.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
276141032017Nonalcoholic steatohepatitis is associated with a state of betaine-insufficiency.11
266757652016Genetic polymorphisms that affect selenium status and response to selenium supplementation in United Kingdom pregnant women.10
189370462008Molecular basis of dimethylglycine dehydrogenase deficiency associated with pathogenic variant H109R.4

Citation

Dessen P

DMGDH (dimethylglycine dehydrogenase)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54257/dmgdh