Details for: DMGDH

Gene ID: 29958

Symbol: DMGDH

Ensembl ID: ENSG00000132837

Description: dimethylglycine dehydrogenase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 69.1760
    Cell Significance Index: -10.7600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 42.6189
    Cell Significance Index: -10.8100
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 9.9503
    Cell Significance Index: -9.5000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 8.7635
    Cell Significance Index: -10.8100
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 3.9317
    Cell Significance Index: 66.2300
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 3.8107
    Cell Significance Index: -8.3400
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 3.1077
    Cell Significance Index: 52.2700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 2.7597
    Cell Significance Index: -10.8900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.7175
    Cell Significance Index: 340.8500
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: 1.2758
    Cell Significance Index: 12.8700
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: 1.2055
    Cell Significance Index: 15.1800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.1752
    Cell Significance Index: 31.4900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.1515
    Cell Significance Index: 219.1500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.9935
    Cell Significance Index: 37.6200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.9884
    Cell Significance Index: 43.7200
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.9030
    Cell Significance Index: 11.2000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.8066
    Cell Significance Index: 61.9000
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.7885
    Cell Significance Index: 15.3900
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: 0.7659
    Cell Significance Index: 10.7100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.7104
    Cell Significance Index: 70.2800
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.6967
    Cell Significance Index: 9.7900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6414
    Cell Significance Index: 579.1700
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.5344
    Cell Significance Index: 15.2500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.5056
    Cell Significance Index: 8.6700
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.5039
    Cell Significance Index: 4.6400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.4644
    Cell Significance Index: 26.0600
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.4629
    Cell Significance Index: 9.9000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3761
    Cell Significance Index: 61.1700
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.3715
    Cell Significance Index: 2.8400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.3654
    Cell Significance Index: 39.7500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2905
    Cell Significance Index: 8.3700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2848
    Cell Significance Index: 12.9100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.2761
    Cell Significance Index: 99.0200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.2428
    Cell Significance Index: 6.0700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.2404
    Cell Significance Index: 14.4300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.2209
    Cell Significance Index: 13.9200
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.1745
    Cell Significance Index: 1.0100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1693
    Cell Significance Index: 11.7100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1544
    Cell Significance Index: 30.9800
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.1439
    Cell Significance Index: 1.9400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1394
    Cell Significance Index: 262.4000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.1202
    Cell Significance Index: 8.0800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0938
    Cell Significance Index: 42.5600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0922
    Cell Significance Index: 58.5700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0757
    Cell Significance Index: 1.6400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0727
    Cell Significance Index: 2.5600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0655
    Cell Significance Index: 11.8100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0568
    Cell Significance Index: 104.7600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0555
    Cell Significance Index: 6.4700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0487
    Cell Significance Index: 74.9400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0434
    Cell Significance Index: 58.9700
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.0352
    Cell Significance Index: 0.5200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0340
    Cell Significance Index: 0.9500
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.0174
    Cell Significance Index: 0.2500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0145
    Cell Significance Index: 7.9100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0141
    Cell Significance Index: 10.3700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0071
    Cell Significance Index: 0.9800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0069
    Cell Significance Index: 1.1800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0051
    Cell Significance Index: 3.5500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0047
    Cell Significance Index: 2.0900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0031
    Cell Significance Index: 0.4500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0002
    Cell Significance Index: -0.0200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0094
    Cell Significance Index: -6.9500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0112
    Cell Significance Index: -0.6900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0138
    Cell Significance Index: -10.4100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0163
    Cell Significance Index: -9.1800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0181
    Cell Significance Index: -0.4700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0183
    Cell Significance Index: -11.4200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0248
    Cell Significance Index: -7.1400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0260
    Cell Significance Index: -3.3300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0332
    Cell Significance Index: -3.4000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0522
    Cell Significance Index: -11.0100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0557
    Cell Significance Index: -5.8000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0621
    Cell Significance Index: -0.8900
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.0627
    Cell Significance Index: -0.9400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0687
    Cell Significance Index: -5.4400
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0721
    Cell Significance Index: -0.8600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0742
    Cell Significance Index: -9.5800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0766
    Cell Significance Index: -3.5700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0772
    Cell Significance Index: -4.0100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0784
    Cell Significance Index: -8.9800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0836
    Cell Significance Index: -1.1400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0838
    Cell Significance Index: -9.8800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0838
    Cell Significance Index: -3.9400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0840
    Cell Significance Index: -4.4100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0906
    Cell Significance Index: -1.9300
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.1076
    Cell Significance Index: -1.8600
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.1192
    Cell Significance Index: -1.7600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1316
    Cell Significance Index: -9.8100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.1378
    Cell Significance Index: -6.9600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1403
    Cell Significance Index: -8.6000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1414
    Cell Significance Index: -4.5300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1446
    Cell Significance Index: -3.0000
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: -0.1459
    Cell Significance Index: -2.2200
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1489
    Cell Significance Index: -3.5700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1521
    Cell Significance Index: -4.8500
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1593
    Cell Significance Index: -2.4000
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1621
    Cell Significance Index: -3.5500
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.1653
    Cell Significance Index: -2.1200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1685
    Cell Significance Index: -11.9200

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** DMGDH is a mitochondrial enzyme that exhibits dimethylglycine dehydrogenase activity, with a molecular weight of approximately 45 kDa. It is encoded by the ENSG00000132837 gene, which is significantly expressed in various tissues, including epithelial cells of the alveolus, hepatocytes, kidney proximal straight tubule epithelial cells, and astrocytes. The enzyme is also involved in electron transfer activity and has been implicated in the regulation of cellular metabolism. **Pathways and Functions:** DMGDH is a part of the choline catabolic process, which involves the breakdown of choline into betaine, a precursor of the methyl donor S-adenosylmethionine (SAMe). The enzyme also participates in the amino-acid betaine catabolic process, which is essential for maintaining cellular homeostasis and regulating various cellular processes, including energy production, antioxidant defense, and DNA methylation. Additionally, DMGDH is involved in the electron transport chain, which is a critical component of cellular respiration and energy production. **Clinical Significance:** DMGDH has been implicated in various human diseases, including neurological disorders, such as Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis (ALS). Research has shown that alterations in DMGDH expression and activity are associated with these diseases. Furthermore, DMGDH has been linked to cancer, cardiovascular disease, and metabolic disorders, highlighting its importance in human health and disease. In conclusion, DMGDH is a crucial enzyme involved in the catabolism of choline and betaine, with significant implications for human health and disease. Further research into the mechanisms of DMGDH and its role in various diseases is essential for the development of novel therapeutic strategies and the improvement of human health outcomes. **Potential Research Directions:** 1. Investigating the role of DMGDH in neurological disorders, such as Alzheimer's disease, Parkinson's disease, and ALS. 2. Exploring the relationship between DMGDH expression and activity in cancer, cardiovascular disease, and metabolic disorders. 3. Developing novel therapeutic strategies targeting DMGDH for the treatment of these diseases. 4. Investigating the potential of DMGDH as a biomarker for disease diagnosis and prognosis. By further understanding the mechanisms of DMGDH and its role in human metabolism, researchers can uncover new avenues for the treatment and prevention of various diseases, ultimately improving human health outcomes.

Genular Protein ID: 3231566122

Symbol: M2GD_HUMAN

Name: Dimethylglycine dehydrogenase, mitochondrial

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 10767172

Title: Structure and analysis of the human dimethylglycine dehydrogenase gene.

PubMed ID: 10767172

DOI: 10.1006/mgme.2000.2980

PubMed ID: 11231903

Title: Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency.

PubMed ID: 11231903

DOI: 10.1086/319520

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

PubMed ID: 10102904

Title: Defect in dimethylglycine dehydrogenase, a new inborn error of metabolism: NMR spectroscopy study.

PubMed ID: 10102904

PubMed ID: 27486859

Title: Structure and biochemical properties of recombinant human dimethylglycine dehydrogenase and comparison to the disease-related H109R variant.

PubMed ID: 27486859

DOI: 10.1111/febs.13828

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

Sequence Information:

  • Length: 866
  • Mass: 96811
  • Checksum: 2EC1FA7DCB6C1F8C
  • Sequence:
  • MLRPGAQLLR GLLLRSCPLQ GSPGRPRSVC GREGEEKPPL SAETQWKDRA ETVIIGGGCV 
    GVSLAYHLAK AGMKDVVLLE KSELTAGSTW HAAGLTTYFH PGINLKKIHY DSIKLYEKLE 
    EETGQVVGFH QPGSIRLATT PVRVDEFKYQ MTRTGWHATE QYLIEPEKIQ EMFPLLNMNK 
    VLAGLYNPGD GHIDPYSLTM ALAAGARKCG ALLKYPAPVT SLKARSDGTW DVETPQGSMR 
    ANRIVNAAGF WAREVGKMIG LEHPLIPVQH QYVVTSTISE VKALKRELPV LRDLEGSYYL 
    RQERDGLLFG PYESQEKMKV QDSWVTNGVP PGFGKELFES DLDRIMEHIK AAMEMVPVLK 
    KADIINVVNG PITYSPDILP MVGPHQGVRN YWVAIGFGYG IIHAGGVGKY LSDWILHGEP 
    PFDLIELDPN RYGKWTTTQY TEAKARESYG FNNIVGYPKE ERFAGRPTQR VSGLYQRLES 
    KCSMGFHAGW EQPHWFYKPG QDTQYRPSFR RTNWFEPVGS EYKQVMQRVA VTDLSPFGKF 
    NIKGQDSIRL LDHLFANVIP KVGFTNISHM LTPKGRVYAE LTVSHQSPGE FLLITGSGSE 
    LHDLRWIEEE AVKGGYDVEI KNITDELGVL GVAGPQARKV LQKLTSEDLS DDVFKFLQTK 
    SLKVSNIPVT AIRISYTGEL GWELYHRRED SVALYDAIMN AGQEEGIDNF GTYAMNALRL 
    EKAFRAWGLE MNCDTNPLEA GLEYFVKLNK PADFIGKQAL KQIKAKGLKR RLVCLTLATD 
    DVDPEGNESI WYNGKVVGNT TSGSYSYSIQ KSLAFAYVPV QLSEVGQQVE VELLGKNYPA 
    VIIQEPLVLT EPTRNRLQKK GGKDKT

Genular Protein ID: 3444250781

Symbol: B3KQ84_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

Sequence Information:

  • Length: 866
  • Mass: 96812
  • Checksum: 1031B8E9AFDF60C9
  • Sequence:
  • MLRPGAQLLR GLLLRSCPLQ GSPGRPRSVC GREGEEKPPL SAETQWKDRA ETVIIGGGCV 
    GVSLAYHLAK AGMKDVVLLE KSELTAGSTW HAAGLTTYFH PGINLKKIHY DSIKLYEKLE 
    EETGQVVGFH QPGSIRLATT PVRVDEFKYQ MTRTGWHATE QYLIEPEKIQ EMFPLLNMNK 
    VLAGLYNPGD GHIDPYSLTM ALAAGARKCG ALLKYPAPVT SLKARSDGTW DVETPQGSMR 
    ANRIVNAAGF WAREVGKMIG LEHPLIPVQH QYVVTSTIPE VKALKRELPV LRDLEGSYYL 
    RQERDGLLFG PYESQEKMKV QDSWVTNGVP PGFGKELFES DLDRIMEHIK AAMEMVPVLK 
    KADIINVVNG PITYSPDILP MVGPHQGVRN YWVAIGFGYG IIHAGGVGKY LSDWILHGEP 
    PFDLIELDPN RYGKWTTTQY TEAKARESYG FNNIVGYPKE ERFAGRPTQR VSGLYQRLES 
    KCSMGFRAGW EQPHWFYKPG QDTQYRPSFR RTNWFEPVGS EYKQVMQRVA VTDLSPFGKF 
    NIKGQDSIRL LDHLFANVIP KVGFTNISHM LTPKGRVYAE LTVSHQSPGE FLLITGSGSE 
    LHDLRWIEEE AVKGGYDVEI KNITDELGVL GVAGPQARKV LQKLTSEDLS DDVFKFLQTK 
    SLKVSNIPVT AIRISYTGEL GWELYHRRED SVALYDAIMN AGQEEGIDNF GTYAMNALRL 
    EKAFRAWGLE MNCDTNPLEA GLEYFVKLNK PADFIGKQAL KQIKAKGLKR RLVCLTLATD 
    DVDPEGNESI WYNGKVVGNT TSGSYSYSIQ KSLAFAYVPV QLSEVGQQVE VELLGKNYPA 
    AIIQEPLVLT EPTRNRLQKK GGKDKT

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.