KEGG   Homo sapiens (human): 728294Help
Entry
728294            CDS       T01001                                 

Gene name
D2HGDH, D2HGD
Definition
(RefSeq) D-2-hydroxyglutarate dehydrogenase
  KO
K18204  D-2-hydroxyglutarate dehydrogenase [EC:1.1.99.39]
Organism
hsa  Homo sapiens (human)
Disease
H01225  D-2-hydroxyglutaric aciduria (D-2-HGA)
Brite
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.1  Acting on the CH-OH group of donors
   1.1.99  With unknown physiological acceptors
    1.1.99.39  D-2-hydroxyglutarate dehydrogenase
     728294 (D2HGDH)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: FAD-oxidase_C FAD_binding_4
Motif
Other DBs
NCBI-GeneID: 728294
NCBI-ProteinID: NP_689996
OMIM: 609186
HGNC: 28358
Ensembl: ENSG00000180902
Vega: OTTHUMG00000151474
Pharos: Q8N465(Tbio)
UniProt: Q8N465 B4E3K7
Position
2q37.3
AA seq 521 aa AA seqDB search
MLPRRPLAWPAWLLRGAPGAAGSWGRPVGPLARRGCCSAPGTPEVPLTRERYPVRRLPFS
TVSKQDLAAFERIVPGGVVTDPEALQAPNVDWLRTLRGCSKVLLRPRTSEEVSHILRHCH
ERNLAVNPQGGNTGMVGGSVPVFDEIILSTARMNRVLSFHSVSGILVCQAGCVLEELSRY
VEERDFIMPLDLGAKGSCHIGGNVATNAGGLRFLRYGSLHGTVLGLEVVLADGTVLDCLT
SLRKDNTGYDLKQLFIGSEGTLGIITTVSILCPPKPRAVNVAFLGCPGFAEVLQTFSTCK
GMLGEILSAFEFMDAVCMQLVGRHLHLASPVQESPFYVLIETSGSNAGHDAEKLGHFLEH
ALGSGLVTDGTMATDQRKVKMLWALRERITEALSRDGYVYKYDLSLPVERLYDIVTDLRA
RLGPHAKHVVGYGHLGDGNLHLNVTAEAFSPSLLAALEPHVYEWTAGQQGSVSAEHGVGF
RKRDVLGYSKPPGALQLMQQLKALLDPKGILNPYKTLPSQA
NT seq 1566 nt NT seq  +upstreamnt  +downstreamnt
atgctgccccgtcggcctctggcgtggcccgcgtggctgttgcggggtgctccgggagcc
gcgggttcttggggtcggccggttggccccctggcccgcagaggctgctgctccgccccg
gggacccccgaggtgccgctgacccgggagcgctaccccgtgcggcgcttgccgttctcc
acggtgtctaagcaggacctggccgcctttgagcgcatcgtgcccggcggggtcgtcacg
gacccggaagcgctgcaggctcccaacgtggactggttgcggacgctgcgaggctgtagc
aaggtgctgctgaggccacggacgtcggaggaggtgtcccacatcctcaggcactgccac
gagaggaacctggccgtgaacccacaggggggcaacacaggcatggtgggtggcagcgtc
cccgtctttgacgagatcatcctctccactgcccgcatgaaccgggtcctcagcttccac
agcgtgtctggaattctggtttgccaggcgggctgcgtcctggaggagctgagccggtat
gtggaggaacgggacttcatcatgccgctggacttaggagccaagggcagctgccacatc
gggggaaacgtggcaaccaacgctggaggcctgcggtttcttcgatatggctcactgcat
gggactgtcctgggcctggaagtggtgctggccgacggcactgtcctggactgcctgacc
tccctgaggaaggacaacacgggctatgacctgaagcagctgttcatcgggtcggagggc
actttggggatcatcaccacggtgtccatcttgtgtccacccaagcccagggctgtgaac
gtggctttcctcggctgcccaggctttgctgaggttctgcagaccttcagcacctgcaag
gggatgctgggtgagatcctgtctgcattcgagttcatggatgctgtgtgcatgcagctg
gtcgggcgccatctccacctggccagcccggtgcaagagagtccgttttacgtcctcatc
gagacttcaggctccaacgcaggccatgacgctgagaagctgggccacttcctggagcac
gcgctgggctccggcctggtgaccgatgggaccatggccaccgaccagaggaaagtcaag
atgctgtgggccctgagggaaaggatcacagaggcgctgagccgggatggctacgtgtac
aagtacgacctctccctccctgtggagcggctctacgacatcgtgactgacctgcgcgcc
cgcctcggcccgcacgccaagcacgtggtgggctatggccaccttggagatggtaacctg
cacctcaatgtgacggcggaggccttcagcccctcgctcctggctgccctggagccccac
gtgtacgagtggacggccgggcagcagggcagcgtcagcgcggagcacggagtgggcttc
aggaagagggacgtcctgggctacagcaagccaccgggggccctgcagctcatgcagcag
ctcaaggccctgctggaccccaagggcatcctcaacccctacaagacgctgcccagccag
gcctga

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