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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 (Hinxton)ENSG00000180902 [Gene_View]  chr2:242673994-242708231 [Contig_View]  D2HGDH [Vega]
ICGC DataPortalENSG00000180902
cBioPortalD2HGDH
AceView (NCBI)D2HGDH
Genatlas (Paris)D2HGDH
WikiGenes728294
SOURCE (Princeton)NM_001287249 NM_152783
Genomic and cartography
GoldenPath (UCSC)D2HGDH  -  2q37.3   chr2:242673994-242708231 +  2q37.3   [Description]    (hg19-Feb_2009)
EnsemblD2HGDH - 2q37.3 [CytoView]
Mapping of homologs : NCBID2HGDH [Mapview]
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 ]
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 [organisation]   FAD-bd_2 [organisation]   FAD-bd_2_sub1 [organisation]   FAD-linked_Oxase-like_C [organisation]   FAD-linked_oxidase_C [organisation]   Oxid_FAD_bind_N [organisation]   Vanillyl_alc_oxidase_C-sub2 [organisation]  
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 [gene] [tissue] [antibody] [cell] [cancer]
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
InParanoidQ8N465
Interologous Interaction database Q8N465
IntegromeDBD2HGDH
STRING (EMBL)D2HGDH
Ontologies - Pathways
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
Wikipedia pathwaysD2HGDH
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)D2HGDH
snp3D : Map Gene to Disease728294
SNP (GeneSNP Utah)D2HGDH
SNP : HGBaseD2HGDH
Genetic variants : HAPMAPD2HGDH
Exome VariantD2HGDH
1000_GenomesD2HGDH 
ICGC programENSG00000180902 
Somatic Mutations in Cancer : COSMICD2HGDH 
CONAN: Copy Number AnalysisD2HGDH 
Mutations and Diseases : HGMDD2HGDH
Genomic VariantsD2HGDH  D2HGDH [DGVbeta]
dbVarD2HGDH
ClinVarD2HGDH
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM600721    609186   
MedgenD2HGDH
GENETestsD2HGDH
Disease Genetic AssociationD2HGDH
Huge Navigator D2HGDH [HugePedia]  D2HGDH [HugeCancerGEM]
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
iHOPD2HGDH
OncoSearchD2HGDH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jul 30 13:50:44 CEST 2014

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