Reactome | UniProt:Q8N465 D2HGDH

Schema > ReferenceGeneProduct > Entries

UniProt:Q8N465 D2HGDH Show undefined attributes

chain	transit peptide:1-13 chain:14-521
checksum	65D88C4315FA45CE
comment	FUNCTION Catalyzes the oxidation of D-2-hydroxyglutarate (D-2-HG) to alpha-ketoglutarate (PubMed:15070399, PubMed:15609246, PubMed:16037974, PubMed:20020533, PubMed:33431826). Also catalyzes the oxidation of other D-2-hydroxyacids, such as D-malate (D-MAL) and D-lactate (D-LAC) (PubMed:33431826). Exhibits high activities towards D-2-HG and D-MAL but a very weak activity towards D-LAC (PubMed:33431826).CATALYTIC ACTIVITY (R)-2-hydroxyglutarate + A = 2-oxoglutarate + AH2CATALYTIC ACTIVITY (R)-malate + A = oxaloacetate + AH2COFACTOR Activated by zinc and cobalt ions.BIOPHYSICOCHEMICAL PROPERTIES The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the FAD-binding oxidoreductase/transferase type 4 family.
created	[InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
crossReference	[DatabaseIdentifier:12427463] RefSeq:XP_011510062.1 [DatabaseIdentifier:12427460] RefSeq:NP_001274178.1 [DatabaseIdentifier:12427461] RefSeq:NP_689996.4 [DatabaseIdentifier:12427462] RefSeq:XP_054199679.1 [DatabaseIdentifier:12290163] Pharos - Targets:Q8N465 [DatabaseIdentifier:12252044] PRO:Q8N465 [DatabaseIdentifier:12212770] PDB:6LPN [DatabaseIdentifier:12212772] PDB:6LPP [DatabaseIdentifier:12212771] PDB:6LPQ [DatabaseIdentifier:12212767] PDB:6LPU [DatabaseIdentifier:12212769] PDB:6LPX [DatabaseIdentifier:12212768] PDB:6LPT [DatabaseIdentifier:12134747] Orphanet:D2HGDH [DatabaseIdentifier:12129953] OpenTargets:ENSG00000180902 [DatabaseIdentifier:11845313] HPA:ENSG00000180902-D2HGDH [DatabaseIdentifier:11828798] HMDB Protein:HMDBP02431 [DatabaseIdentifier:11808331] GlyGen:Q8N465 [DatabaseIdentifier:11792318] GeneCards:D2HGDH [DatabaseIdentifier:11732134] ENSEMBL:ENST00000321264 [DatabaseIdentifier:11609435] ENSEMBL:ENSP00000315351 [DatabaseIdentifier:11499638] ENSEMBL:ENSG00000180902
databaseName	UniProt
dbId	226353
description	recommendedName: D-2-hydroxyglutarate dehydrogenase, mitochondrial ecNumber evidence="4 5 6 10 11 16"1.1.99.39
displayName	UniProt:Q8N465 D2HGDH
geneName	D2HGDH D2HGD
identifier	Q8N465
isSequenceChanged	false
keyword	3D-structure Alternative splicing Disease variant FAD Flavoprotein Metal-binding Mitochondrion Oxidoreductase Proteomics identification Reference proteome Transit peptide Zinc
modified	[InstanceEdit:9948485] Weiser, Joel, 2025-05-21
moleculeType	Protein
name	D2HGDH
otherIdentifier	11747449_s_at 11755619_s_at 11761313_x_at 16893600 228738_PM_at 228738_at 2536801 2536802 2536803 2536804 2536805 2536806 2536811 2536812 2536814 2536815 2536819 2536820 2536821 2536822 2536823 2536824 2536825 2536826 2536827 2536828 2536829 2536830 2536831 2536832 2536833 2536834 2536835 2536836 2536837 2536838 2536840 2536841 2536842 2536843 2536844 2536845 2536846 2536847 2536848 2536849 2536856 2536857 2536858 2536859 2536861 2536863 2536865 2536867 4046500 4046501 4046502 4046503 4046504 4046505 4046506 4046508 4046509 4046511 4046512 4046513 4046514 4046515 4046516 4046517 4046518 4046519 4046520 4046521 4046522 4046523 4046524 4046525 4046526 4046528 4046529 4046530 4046531 4046532 4046533 4046534 4046535 4046536 4046541 4046542 4046543 4046544 50086_at 728294 8049919 8077238 A_14_P102511 A_23_P376627 A_32_P6769 A_33_P3355296 GE62287 GO:0003824 GO:0005739 GO:0005759 GO:0006089 GO:0006103 GO:0006108 GO:0008270 GO:0010042 GO:0010043 GO:0016491 GO:0032025 GO:0046872 GO:0050660 GO:0051990 GO:0071949 GO:1901275 HMNXSV003014967 HMNXSV003030729 HMNXSV003031775 Hs.26373.0.S1_3p_at ILMN_2206272 PH_hs_0030648 TC02001486.hg
physicalEntity	[EntityWithAccessionedSequence:R-HSA-880006] D2HGDH [mitochondrial matrix] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:12702434] UCSC:Q8N465 D2HGDH [ReferenceDNASequence:12114563] OMIM:609186 D2HGDH [ReferenceDNASequence:12078862] NCBI Gene:728294 D2HGDH [ReferenceDNASequence:11994769] Monarch:728294 D2HGDH [ReferenceDNASequence:11903530] KEGG:hsa:728294 D2HGDH [ReferenceDNASequence:11823998] HGNC:28358 D2HGDH [ReferenceDNASequence:11430648] dbSNP Gene:728294 D2HGDH [ReferenceDNASequence:11420420] CTD Gene:728294 D2HGDH [ReferenceDNASequence:11394572] COSMIC - genes:D2HGDH D2HGDH [ReferenceDNASequence:11364980] BioGPS Gene:728294 D2HGDH [ReferenceDNASequence:ensembl:ENSG00000180902] ENSEMBL:ENSG00000180902 D2HGDH
referenceTranscript	[ReferenceRNASequence:12609011] RefSeq:NM_152783.4 D2HGDH [ReferenceRNASequence:12609012] RefSeq:NM_001287249.1 D2HGDH [ReferenceRNASequence:12609010] RefSeq:XM_054343704.1 D2HGDH [ReferenceRNASequence:12609009] RefSeq:XM_011511760.4 D2HGDH
schemaClass	ReferenceGeneProduct
secondaryIdentifier	D2HDH_HUMAN B4E3L6 E7ENP2 Q6IQ24 Q8N5Q8
sequenceLength	521
species	[Species:48887] Homo sapiens
stId	uniprot:Q8N465
url	http://purl.uniprot.org/uniprot/Q8N465

Referrals

(interactor)	[UndirectedInteraction:11247795] UniProt:Q8N465 <-> UniProt:Q96JM2 (IntAct)
(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-880006] D2HGDH [mitochondrial matrix]