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Identification
HMDB Protein ID HMDBP02431
Secondary Accession Numbers
  • 7925
Name D-2-hydroxyglutarate dehydrogenase, mitochondrial
Synonyms Not Available
Gene Name D2HGDH
Protein Type Unknown
Biological Properties
General Function Involved in catalytic activity
Specific Function Catalyzes the oxidation of D-2-hydroxyglutarate to alpha-ketoglutarate.
Pathways
  • The oncogenic action of D-2-hydroxyglutarate in Hydroxygluaricaciduria
Reactions
D-2-Hydroxyglutaric acid + acceptor → Oxoglutaric acid + reduced acceptor details
GO Classification
Biological Process
response to zinc ion
cellular protein metabolic process
2-oxoglutarate metabolic process
response to manganese ion
response to cobalt ion
Cellular Component
mitochondrial matrix
Function
binding
catalytic activity
nucleoside binding
purine nucleoside binding
adenyl nucleotide binding
oxidoreductase activity
fad or fadh2 binding
Molecular Function
UDP-N-acetylmuramate dehydrogenase activity
flavin adenine dinucleotide binding
(R)-2-hydroxyglutarate dehydrogenase activity
Cellular Location
  1. Mitochondrion (Probable)
Gene Properties
Chromosome Location 2
Locus 2q37.3
SNPs D2HGDH
Gene Sequence
>1566 bp
ATGCTGCCCCGTCGGCCTCTGGCGTGGCCCGCGTGGCTGTTGCGGGGTGCTCCGGGAGCC
GCGGGTTCTTGGGGTCGGCCGGTTGGCCCCCTGGCCCGCAGAGGCTGCTGCTCCGCCCCG
GGGACCCCCGAGGTGCCGCTGACCCGGGAGCGCTACCCCGTGCAGCGCTTGCCGTTCTCC
ACGGTGTCTAAGCAGGACCTGGCCGCCTTTGAGCGCATCGTGCCCGGCGGGGTCGTCACG
GACCCGGAAGCGCTGCAGGCTCCCAACGTGGACTGGTTGCGGACGCTGCGAGGCTGTAGC
AAGGTGCTGCTGAGGCCACGGACGTCGGAGGAGGTGTCCCACATCCTCAGGCACTGCCAC
GAGAGGAACCTGGCCGTGAACCCACAGGGGGGCAACACAGGCATGGTGGGTGGCAGCGTC
CCCGTCTTTGACGAGATCATCCTCTCCACTGCCCGCATGAACCGGGTCCTCAGCTTCCAC
AGCGTGTCTGGAATTCTGGTTTGCCAGGCGGGCTGCGTCCTGGAGGAGCTGAGCCGGTAT
GTGGAGGAACGGGACTTCATCATGCCGCTGGACTTAGGAGCCAAGGGCAGCTGCCACATC
GGGGGAAACGTGGCAACCAACGCTGGAGGCCTGCGGTTTCTTCGATATGGCTCACTGCAT
GGGACTGTCCTGGGCCTGGAAGTGGTGCTGGCCGACGGCACTGTCCTGGACTGCCTGACC
TCCCTGAGGAAGGACAACACGGGCTATGACCTGAAGCAGCTGTTCATCGGGTCGGAGGGC
ACTTTGGGGATCATCACCACGGTGTCCATCTTGTGTCCACCCAAGCCCAGGGCTGTGAAC
GTGGCTTTCCTCGGCTGCCCAGGCTTTGCTGAGGTTCTGCAGACCTTCAGCACCTGCAAG
GGGATGCTGGGTGAGATCCTGTCTGCATTCGAGTTCATGGATGCTGTGTGCATGCAGCTG
GTCGGGCGCCATCTCCACCTGGCCAGCCCGGTGCAAGAGAGTCCGTTTTACGTCCTCATC
GAGACTTCAGGCTCCAACGCAGGCCATGACGCTGAGAAGCTGGGCCACTTCCTGGAGCAC
GCGCTGGGCTCCGGCCTGGTGACCGATGGGACCATGGCCACCGACCAGAGGAAAGTCAAG
ATGCTGTGGGCCCTGAGGGAAAGGATCACAGAGGCGCTGAGCCGGGATGGCTACGTGTAC
AAGTACGACCTCTCCCTCCCTGTGGAGCGGCTCTACGACATCGTGACTGACCTGCGCGCC
CGCCTCGGCCCGCACGCCAAGCACGTGGTGGGCTATGGCCACCTTGGAGATGGTAACCTG
CACCTCAATGTGACGGCGGAGGCCTTCAGCCCCTCGCTCCTGGCTGCCCTGGAGCCCCAC
GTGTACGAGTGGACGGCCGGGCAGCAGGGCAGCGTCAGCGCGGAGCACGGAGTGGGCTTC
AGGAAGAGGGACGTCCTGGGCTACAGCAAGCCACCGGGGGCCCTGCAGCTCATGCAGCAG
CTCAAGGCCCTGCTGGACCCCAAGGGCATCCTCAACCCCTACAAGACGCTGCCCAGCCAG
GCCTGA
Protein Properties
Number of Residues 521
Molecular Weight 56415.58
Theoretical pI 7.98
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>D-2-hydroxyglutarate dehydrogenase, mitochondrial
MLPRRPLAWPAWLLRGAPGAAGSWGRPVGPLARRGCCSAPGTPEVPLTRERYPVRRLPFS
TVSKQDLAAFERIVPGGVVTDPEALQAPNVDWLRTLRGCSKVLLRPRTSEEVSHILRHCH
ERNLAVNPQGGNTGMVGGSVPVFDEIILSTARMNRVLSFHSVSGILVCQAGCVLEELSRY
VEERDFIMPLDLGAKGSCHIGGNVATNAGGLRFLRYGSLHGTVLGLEVVLADGTVLDCLT
SLRKDNTGYDLKQLFIGSEGTLGIITTVSILCPPKPRAVNVAFLGCPGFAEVLQTFSTCK
GMLGEILSAFEFMDAVCMQLVGRHLHLASPVQESPFYVLIETSGSNAGHDAEKLGHFLEH
ALGSGLVTDGTMATDQRKVKMLWALRERITEALSRDGYVYKYDLSLPVERLYDIVTDLRA
RLGPHAKHVVGYGHLGDGNLHLNVTAEAFSPSLLAALEPHVYEWTAGQQGSVSAEHGVGF
RKRDVLGYSKPPGALQLMQQLKALLDPKGILNPYKTLPSQA
GenBank ID Protein 34192567
UniProtKB/Swiss-Prot ID Q8N465
UniProtKB/Swiss-Prot Entry Name D2HDH_HUMAN
PDB IDs Not Available
GenBank Gene ID BC036604
GeneCard ID D2HGDH
GenAtlas ID D2HGDH
HGNC ID HGNC:28358
References
General References
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  2. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  3. Achouri Y, Noel G, Vertommen D, Rider MH, Veiga-Da-Cunha M, Van Schaftingen E: Identification of a dehydrogenase acting on D-2-hydroxyglutarate. Biochem J. 2004 Jul 1;381(Pt 1):35-42. [PubMed:15070399 ]
  4. Struys EA, Salomons GS, Achouri Y, Van Schaftingen E, Grosso S, Craigen WJ, Verhoeven NM, Jakobs C: Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. Am J Hum Genet. 2005 Feb;76(2):358-60. Epub 2004 Dec 17. [PubMed:15609246 ]
  5. Struys EA, Korman SH, Salomons GS, Darmin PS, Achouri Y, van Schaftingen E, Verhoeven NM, Jakobs C: Mutations in phenotypically mild D-2-hydroxyglutaric aciduria. Ann Neurol. 2005 Oct;58(4):626-30. [PubMed:16037974 ]
  6. Misra VK, Struys EA, O'brien W, Salomons GS, Glover T, Jakobs C, Innis JW: Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins. Mol Genet Metab. 2005 Sep-Oct;86(1-2):200-5. Epub 2005 Aug 2. [PubMed:16081310 ]
  7. Struys EA, Verhoeven NM, Salomons GS, Berthelot J, Vianay-Saban C, Chabrier S, Thomas JA, Tsai AC, Gibson KM, Jakobs C: D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon? Mol Genet Metab. 2006 May;88(1):53-7. Epub 2006 Jan 25. [PubMed:16442322 ]