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D2HGDH (D-2-hydroxyglutarate dehydrogenase)

Identity

Other namesD2HGD
HGNC (Hugo) D2HGDH
LocusID (NCBI) 728294
Location 2q37.3
Location_base_pair Starts at 242673994 and ends at 242708231 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

External links

Nomenclature
HGNC (Hugo)D2HGDH   28358
Cards
Entrez_Gene (NCBI)D2HGDH  728294  D-2-hydroxyglutarate dehydrogenase
GeneCards (Weizmann)D2HGDH
Ensembl hg19 (Hinxton)ENSG00000180902 [Gene_View]  chr2:242673994-242708231 [Contig_View]  D2HGDH [Vega]
Ensembl hg38 (Hinxton)ENSG00000180902 [Gene_View]  chr2:242673994-242708231 [Contig_View]  D2HGDH [Vega]
ICGC DataPortalENSG00000180902
cBioPortalD2HGDH
AceView (NCBI)D2HGDH
Genatlas (Paris)D2HGDH
WikiGenes728294
SOURCE (Princeton)D2HGDH
Genomic and cartography
GoldenPath hg19 (UCSC)D2HGDH  -     chr2:242673994-242708231 +  2q37.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)D2HGDH  -     2q37.3   [Description]    (hg38-Dec_2013)
EnsemblD2HGDH - 2q37.3 [CytoView hg19]  D2HGDH - 2q37.3 [CytoView hg38]
Mapping of homologs : NCBID2HGDH [Mapview hg19]  D2HGDH [Mapview hg38]
OMIM600721   609186   
Gene and transcription
Genbank (Entrez)AF318334 AK027102 AK055846 AK091725 AK094149
RefSeq transcript (Entrez)NM_001287249 NM_152783
RefSeq genomic (Entrez)AC_000134 NC_000002 NC_018913 NG_012012 NT_005403 NW_001838874 NW_004929308
Consensus coding sequences : CCDS (NCBI)D2HGDH
Cluster EST : UnigeneHs.516813 [ NCBI ]
CGAP (NCI)Hs.516813
Alternative Splicing : Fast-db (Paris)GSHG0017366
Alternative Splicing GalleryENSG00000180902
Gene ExpressionD2HGDH [ NCBI-GEO ]     D2HGDH [ SEEK ]   D2HGDH [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N465 (Uniprot)
NextProtQ8N465  [Medical]
With graphics : InterProQ8N465
Splice isoforms : SwissVarQ8N465 (Swissvar)
Catalytic activity : Enzyme1.1.99.- [ Enzyme-Expasy ]   1.1.99.-1.1.99.- [ IntEnz-EBI ]   1.1.99.- [ BRENDA ]   1.1.99.- [ KEGG ]   
Domaine pattern : Prosite (Expaxy)FAD_PCMH (PS51387)   
Domains : Interpro (EBI)CO_DH_flavot_FAD-bd_sub2    FAD-bd_2    FAD-bd_2_sub1    FAD-linked_Oxase-like_C    FAD-linked_oxidase_C    Oxid_FAD_bind_N    Vanillyl_alc_oxidase_C-sub2   
Related proteins : CluSTrQ8N465
Domain families : Pfam (Sanger)FAD-oxidase_C (PF02913)    FAD_binding_4 (PF01565)   
Domain families : Pfam (NCBI)pfam02913    pfam01565   
DMDM Disease mutations728294
Blocks (Seattle)Q8N465
Human Protein AtlasENSG00000180902
Peptide AtlasQ8N465
HPRD14502
IPIIPI00166642   IPI01015463   IPI00883619   IPI01014040   IPI00103852   IPI01010926   IPI00871210   IPI00894048   IPI00893605   IPI00893732   IPI00893352   IPI00893761   IPI00893327   
Protein Interaction databases
DIP (DOE-UCLA)Q8N465
IntAct (EBI)Q8N465
FunCoupENSG00000180902
BioGRIDD2HGDH
IntegromeDBD2HGDH
STRING (EMBL)D2HGDH
Ontologies - Pathways
QuickGOQ8N465
Ontology : AmiGOmitochondrion  mitochondrial matrix  2-oxoglutarate metabolic process  UDP-N-acetylmuramate dehydrogenase activity  response to manganese ion  response to zinc ion  response to cobalt ion  response to magnesium ion  cellular metabolic process  cellular protein metabolic process  small molecule metabolic process  flavin adenine dinucleotide binding  response to calcium ion  (R)-2-hydroxyglutarate dehydrogenase activity  oxidation-reduction process  
Ontology : EGO-EBImitochondrion  mitochondrial matrix  2-oxoglutarate metabolic process  UDP-N-acetylmuramate dehydrogenase activity  response to manganese ion  response to zinc ion  response to cobalt ion  response to magnesium ion  cellular metabolic process  cellular protein metabolic process  small molecule metabolic process  flavin adenine dinucleotide binding  response to calcium ion  (R)-2-hydroxyglutarate dehydrogenase activity  oxidation-reduction process  
Protein Interaction DatabaseD2HGDH
DoCM (Curated mutations)D2HGDH
Wikipedia pathwaysD2HGDH
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerD2HGDH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)D2HGDH
dbVarD2HGDH
ClinVarD2HGDH
1000_GenomesD2HGDH 
Exome Variant ServerD2HGDH
SNP (GeneSNP Utah)D2HGDH
SNP : HGBaseD2HGDH
Genetic variants : HAPMAPD2HGDH
Genomic VariantsD2HGDH  D2HGDH [DGVbeta]
Mutations
ICGC Data PortalENSG00000180902 
Somatic Mutations in Cancer : COSMICD2HGDH 
CONAN: Copy Number AnalysisD2HGDH 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)2:242673994-242708231
Mutations and Diseases : HGMDD2HGDH
OMIM600721    609186   
MedgenD2HGDH
NextProtQ8N465 [Medical]
GENETestsD2HGDH
Disease Genetic AssociationD2HGDH
Huge Navigator D2HGDH [HugePedia]  D2HGDH [HugeCancerGEM]
snp3D : Map Gene to Disease728294
DGIdb (Drug Gene Interaction db)D2HGDH
General knowledge
Homologs : HomoloGeneD2HGDH
Homology/Alignments : Family Browser (UCSC)D2HGDH
Phylogenetic Trees/Animal Genes : TreeFamD2HGDH
Chemical/Protein Interactions : CTD728294
Chemical/Pharm GKB GenePA143485446
Clinical trialD2HGDH
Cancer Resource (Charite)ENSG00000180902
Other databases
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
CoreMineD2HGDH
GoPubMedD2HGDH
iHOPD2HGDH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 21:07:00 CET 2014

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