Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

L2HGDH (L-2-hydroxyglutarate dehydrogenase)

Identity

Alias_namesC14orf160
chromosome 14 open reading frame 160
Alias_symbol (synonym)FLJ12618
Other aliasL2HGA
HGNC (Hugo) L2HGDH
LocusID (NCBI) 79944
Atlas_Id 50477
Location 14q21.3  [Link to chromosome band 14q21]
Location_base_pair Starts at 50242434 and ends at 50312229 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
DLGAP5 (14q22.3) / L2HGDH (14q21.3)L2HGDH (14q21.3) / KIAA1191 (5q35.2)L2HGDH (14q21.3) / KRT19 (17q21.2)
L2HGDH (14q21.3) / LMBRD1 (6q13)L2HGDH (14q21.3) / MBP (18q23)L2HGDH (14q21.3) / PDGFD (11q22.3)
MNAT1 (14q23.1) / L2HGDH (14q21.3)NEMF (14q21.3) / L2HGDH (14q21.3)DLGAP5 14q22.3 / L2HGDH 14q21.3
L2HGDH 14q21.3 / LMBRD1 6q13

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

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)L2HGDH   20499
Cards
Entrez_Gene (NCBI)L2HGDH  79944  L-2-hydroxyglutarate dehydrogenase
AliasesC14orf160; L2HGA
GeneCards (Weizmann)L2HGDH
Ensembl hg19 (Hinxton)ENSG00000087299 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000087299 [Gene_View]  chr14:50242434-50312229 [Contig_View]  L2HGDH [Vega]
ICGC DataPortalENSG00000087299
TCGA cBioPortalL2HGDH
AceView (NCBI)L2HGDH
Genatlas (Paris)L2HGDH
WikiGenes79944
SOURCE (Princeton)L2HGDH
Genetics Home Reference (NIH)L2HGDH
Genomic and cartography
GoldenPath hg38 (UCSC)L2HGDH  -     chr14:50242434-50312229 -  14q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)L2HGDH  -     14q21.3   [Description]    (hg19-Feb_2009)
EnsemblL2HGDH - 14q21.3 [CytoView hg19]  L2HGDH - 14q21.3 [CytoView hg38]
Mapping of homologs : NCBIL2HGDH [Mapview hg19]  L2HGDH [Mapview hg38]
OMIM236792   609584   
Gene and transcription
Genbank (Entrez)AK022680 AK292627 AK309294 AY757363 BC006117
RefSeq transcript (Entrez)NM_024884
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)L2HGDH
Cluster EST : UnigeneHs.256034 [ NCBI ]
CGAP (NCI)Hs.256034
Alternative Splicing GalleryENSG00000087299
Gene ExpressionL2HGDH [ NCBI-GEO ]   L2HGDH [ EBI - ARRAY_EXPRESS ]   L2HGDH [ SEEK ]   L2HGDH [ MEM ]
Gene Expression Viewer (FireBrowse)L2HGDH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79944
GTEX Portal (Tissue expression)L2HGDH
Human Protein AtlasENSG00000087299-L2HGDH [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H9P8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H9P8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H9P8
Splice isoforms : SwissVarQ9H9P8
Catalytic activity : Enzyme1.1.99.2 [ Enzyme-Expasy ]   1.1.99.21.1.99.2 [ IntEnz-EBI ]   1.1.99.2 [ BRENDA ]   1.1.99.2 [ KEGG ]   
PhosPhoSitePlusQ9H9P8
Domains : Interpro (EBI)FAD-dep_OxRdtase    FAD/NAD-binding_dom   
Domain families : Pfam (Sanger)DAO (PF01266)   
Domain families : Pfam (NCBI)pfam01266   
Conserved Domain (NCBI)L2HGDH
DMDM Disease mutations79944
Blocks (Seattle)L2HGDH
SuperfamilyQ9H9P8
Human Protein Atlas [tissue]ENSG00000087299-L2HGDH [tissue]
Peptide AtlasQ9H9P8
HPRD12640
IPIIPI00016458   IPI00029239   IPI01025121   IPI01025001   IPI01025349   IPI01025212   
Protein Interaction databases
DIP (DOE-UCLA)Q9H9P8
IntAct (EBI)Q9H9P8
FunCoupENSG00000087299
BioGRIDL2HGDH
STRING (EMBL)L2HGDH
ZODIACL2HGDH
Ontologies - Pathways
QuickGOQ9H9P8
Ontology : AmiGOmitochondrion  mitochondrial inner membrane  2-oxoglutarate metabolic process  integral component of membrane  integral component of mitochondrial inner membrane  cellular protein metabolic process  2-hydroxyglutarate dehydrogenase activity  2-hydroxyglutarate dehydrogenase activity  oxidation-reduction process  
Ontology : EGO-EBImitochondrion  mitochondrial inner membrane  2-oxoglutarate metabolic process  integral component of membrane  integral component of mitochondrial inner membrane  cellular protein metabolic process  2-hydroxyglutarate dehydrogenase activity  2-hydroxyglutarate dehydrogenase activity  oxidation-reduction process  
Pathways : KEGGButanoate metabolism   
NDEx NetworkL2HGDH
Atlas of Cancer Signalling NetworkL2HGDH
Wikipedia pathwaysL2HGDH
Orthology - Evolution
OrthoDB79944
GeneTree (enSembl)ENSG00000087299
Phylogenetic Trees/Animal Genes : TreeFamL2HGDH
HOVERGENQ9H9P8
HOGENOMQ9H9P8
Homologs : HomoloGeneL2HGDH
Homology/Alignments : Family Browser (UCSC)L2HGDH
Gene fusions - Rearrangements
Fusion : MitelmanDLGAP5/L2HGDH [14q22.3/14q21.3]  [t(14;14)(q21;q22)]  
Fusion : MitelmanL2HGDH/LMBRD1 [14q21.3/6q13]  [t(6;14)(q13;q21)]  
Fusion: TCGA_MDACCDLGAP5 14q22.3 L2HGDH 14q21.3 BRCA
Fusion: TCGA_MDACCL2HGDH 14q21.3 LMBRD1 6q13 BRCA
Tumor Fusion PortalL2HGDH
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerL2HGDH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)L2HGDH
dbVarL2HGDH
ClinVarL2HGDH
1000_GenomesL2HGDH 
Exome Variant ServerL2HGDH
ExAC (Exome Aggregation Consortium)ENSG00000087299
GNOMAD BrowserENSG00000087299
Genetic variants : HAPMAP79944
Genomic Variants (DGV)L2HGDH [DGVbeta]
DECIPHERL2HGDH [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisL2HGDH 
Mutations
ICGC Data PortalL2HGDH 
TCGA Data PortalL2HGDH 
Broad Tumor PortalL2HGDH
OASIS PortalL2HGDH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICL2HGDH  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDL2HGDH
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
BioMutasearch L2HGDH
DgiDB (Drug Gene Interaction Database)L2HGDH
DoCM (Curated mutations)L2HGDH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)L2HGDH (select a term)
intoGenL2HGDH
Cancer3DL2HGDH(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM236792    609584   
Orphanet11340   
DisGeNETL2HGDH
MedgenL2HGDH
Genetic Testing Registry L2HGDH
NextProtQ9H9P8 [Medical]
TSGene79944
GENETestsL2HGDH
Target ValidationL2HGDH
Huge Navigator L2HGDH [HugePedia]
snp3D : Map Gene to Disease79944
BioCentury BCIQL2HGDH
ClinGenL2HGDH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79944
Chemical/Pharm GKB GenePA134971279
Clinical trialL2HGDH
Miscellaneous
canSAR (ICR)L2HGDH (select the gene name)
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineL2HGDH
EVEXL2HGDH
GoPubMedL2HGDH
iHOPL2HGDH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:19:24 CET 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.