DMGDH (dimethylglycine dehydrogenase)

2014-08-01  

Identity

HGNC
DMGDH
LOCATION
5q14.1
LOCUSID
29958
ALIAS
DMGDHD,ME2GLYDH
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
293563062018Evidence of interaction between genes in the folate/homocysteine metabolic pathway in controlling risk of non-syndromic oral cleft.5
293563062018Evidence of interaction between genes in the folate/homocysteine metabolic pathway in controlling risk of non-syndromic oral cleft.5
276141032017Nonalcoholic steatohepatitis is associated with a state of betaine-insufficiency.27
276141032017Nonalcoholic steatohepatitis is associated with a state of betaine-insufficiency.27
266757652016Genetic polymorphisms that affect selenium status and response to selenium supplementation in United Kingdom pregnant women.24
274868592016Structure and biochemical properties of recombinant human dimethylglycine dehydrogenase and comparison to the disease-related H109R variant.8
266757652016Genetic polymorphisms that affect selenium status and response to selenium supplementation in United Kingdom pregnant women.24
274868592016Structure and biochemical properties of recombinant human dimethylglycine dehydrogenase and comparison to the disease-related H109R variant.8
257952132015Dimethylglycine Deficiency and the Development of Diabetes.31
257952132015Dimethylglycine Deficiency and the Development of Diabetes.31
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
206348912010Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.28
206629042010Polymorphisms located in the region containing BHMT and BHMT2 genes as maternal protective factors for orofacial clefts.13
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15

Citation

Dessen P

DMGDH (dimethylglycine dehydrogenase)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54257/gene-explorer/css/js/_common.js