DMGDH (dimethylglycine dehydrogenase)

Gene Basic Information

Gene Basic Information

symbol
DMGDH
locus group
protein-coding gene
location
5q14.1
gene_family
-
alias symbol
ME2GLYDH
alias name
None
entrez id
29958
ensembl gene id
ENSG00000132837
ucsc gene id
uc003kfs.5
refseq accession
NM_013391
hgnc_id
HGNC:24475
approved reserved
2004-05-12

Chromosome Location

Chromosome Location

5q14.1

Gene Summary

Gene Summary

ChineseEnglish

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]

OMIM entry for DMGDH     Wikipedia entry for DMGDH

Gene Sequence

Gene Sequence

Nucleotide sequence of DMGDH:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MLRPGAQLLR GLLLRSCPLQ GSPGRPRSVC GREGEEKPPL
41SAETQWKDRA ETVIIGGGCV GVSLAYHLAK AGMKDVVLLE
81 KSELTAGST WHAAGLTTYF HPGINLKKIH YDSIKLYEKL
121EEETGQVVGF HQPGSIRLAT TPVRVDEFKY QMTRTGWHAT
161E QYLIEPEK IQEMFPLLNM NKVLAGLYNP GDGHIDPYSL
201TMALAAGARK CGALLKYPAP VTSLKARSDG TWDVETPQGS
241MR ANRIVNA AGFWAREVGK MIGLEHPLIP VQHQYVVTST
281ISEVKALKRE LPVLRDLEGS YYLRQERDGL LFGPYESQEK
321MKV QDSWVT NGVPPGFGKE LFESDLDRIM EHIKAAMEMV
361PVLKKADIIN VVNGPITYSP DILPMVGPHQ GVRNYWVAIG
401FGYG IIHAG GVGKYLSDWI LHGEPPFDLI ELDPNRYGKW
441TTTQYTEAKA RESYGFNNIV GYPKEERFAG RPTQRVSGLY
481QRLES KCSM GFHAGWEQPH WFYKPGQDTQ YRPSFRRTNW
521FEPVGSEYKQ VMQRVAVTDL SPFGKFNIKG QDSIRLLDHL
561FANVIP KVG FTNISHMLTP KGRVYAELTV SHQSPGEFLL
601ITGSGSELHD LRWIEEEAVK GGYDVEIKNI TDELGVLGVA
641GPQARKV LQ KLTSEDLSDD VFKFLQTKSL KVSNIPVTAI
681RISYTGELGW ELYHRREDSV ALYDAIMNAG QEEGIDNFGT
721YAMNALRL E KAFRAWGLEM NCDTNPLEAG LEYFVKLNKP
761ADFIGKQALK QIKAKGLKRR LVCLTLATDD VDPEGNESIW
801YNGKVVGNT TSGSYSYSIQ KSLAFAYVPV QLSEVGQQVE
841VELLGKNYPA VIIQEPLVLT EPTRNRLQKK GGKDKT
Structure predicted by AlphaFold DB(UniProt: Q9UI17). Color indicates pLDDT confidence (dark blue = high, yellow/orange = low).

Gene Variants

Gene Variants

SNP variants of DMGDH:           Showing partial SNPs
rs485851       rs486580       rs574921       rs642431       rs642934       rs644191       rs670220       rs671960       rs673752       rs673834       rs4998017       rs5868949       rs6877474       rs7718728       rs12108714       rs56774046       rs57640773      

Gene Expression

Gene Expression

Tissue expression of DMGDH:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
ACTGGAATCAGTTAAGCTAAGG
58
ACAAGTGGCTGATGAAGGA
59
GGGATGAAAGATGTGGTCC
58
GTAAGTTGTTAAACCTGCTGC
58
GGGATTACAGGCTGGAGTG
60
CTACTAGGAAGGCTGAGGTG
59
TTATACTGGTGAGCTGGGT
57
CCTGCATTCATGATAGCGT
58
TGGCTATAGGCTTTGGATATGG
60
GTTCTCCATGCAGGATCCA
60
TTATACTGGTGAGCTGGGT
58
CCTGCATTCATGATAGCGT
58
TGGCTATAGGCTTTGGATATGG
60
GTTCTCCATGCAGGATCCA
60
AGAAGAAACTGGTCAGGTGG
60
CTGTTCTGTTGCATGCCAG
60
ACCAATGGAGTTCCTCCAG
59
CATGATTCGATCTAGATCAGACTC
59
ACTGGAATCAGTTAAGCTAAGG
58
ACAAGTGGCTGATGAAGGA
59

Gene Ontology

Subcellular localization of DMGDH (and its protein):

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • plasma membrane
  • cytoplasm
  • extracellular
  • golgi
  • vesicle
  • cytoskeleton
  • endoplasmic reticulum
  • nucleus
  • endosome
  • lysosome
  • mitochondrion

Gene Ontology (GO) terms for DMGDH:

GO ID
Protein
Source DB
GO:0016491
E5RG50 (UniProtKB)
IEA
GO:0055114
E5RG50 (UniProtKB)
IEA
GO:0016491
E5RK15 (UniProtKB)
IEA
GO:0055114
E5RK15 (UniProtKB)
IEA
GO:0016491
Q8TCC6 (UniProtKB)
IEA
GO:0055114
Q8TCC6 (UniProtKB)
IEA
GO:0005759
Q9UI17 (UniProtKB)
NAS
GO:0005759
Q9UI17 (UniProtKB)
TAS
GO:0006544
Q9UI17 (UniProtKB)
IMP
GO:0006579
Q9UI17 (UniProtKB)
IEA
GO:0009055
Q9UI17 (UniProtKB)
NAS
GO:0019695
Q9UI17 (UniProtKB)
NAS
GO:0042426
Q9UI17 (UniProtKB)
TAS
GO:0044822
Q9UI17 (UniProtKB)
IDA
GO:0047865
Q9UI17 (UniProtKB)
IMP
GO:0047865
Q9UI17 (UniProtKB)
TAS
GO:0055114
Q9UI17 (UniProtKB)
IEA

Related microRNA

Related microRNA

microRNAs potentially regulating DMGDH:     

Gene Interactions

Gene Interactions

String
BioGrid
mentha
Loading…
Interacting Gene Interaction Source/Score

Gene Pathways

Gene Pathways

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source
Dimethylglycine Dehydrogenase Deficiency 0.48 1 1 CLINVAR_CTD_human_ORPHANET_UNIPROT
Cleft Lip 0.004734064 2 0 GAD
Cleft Palate 0.004734064 2 0 GAD
Blood pressure finding 0.002367032 1 1 GAD
Systemic arterial pressure 0.002367032 1 1 GAD
Inborn Errors of Metabolism 0.000271442 1 0 BeFree

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