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L2hgdh
Gene Detail
 Symbol
Name
ID
L2hgdh
L-2-hydroxyglutarate dehydrogenase
MGI:2384968
Synonyms MGC:28775
Feature Type protein coding gene
Genetic Map
Chromosome 12
28.94 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr12:69690436-69724874 bp, - strand
From NCBI annotation of GRCm38

  34439 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:11767  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: YgaF protein
Gene Tree: L2hgdh

Human
homologs
Human Homolog L2HGDH, L-2-hydroxyglutarate dehydrogenase
NCBI Gene ID 79944
neXtProt AC  NX_Q9H9P8
Human Synonyms  C14orf160
Human Chr (Location)  14q21.3; chr14:50242434-50312229 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human L2HGDH
Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Gene trapped(4) Targeted(1)
Incidental mutations (data from Mutagenetix , APF )
Interactions
L2hgdh interacts with 256 markers (Mir1a-2, Mir1b, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (11 annotations)
Process cellular protein metabolic process, oxidation-reduction process
Component integral component of membrane, mitochondrion
Function 2-hydroxyglutarate dehydrogenase activity, oxidoreductase activity
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (94)    Tissues (94)    Images (3)
Theiler Stages: 22
Assay TypeResults
RNA in situ 94
cDNA source data(47)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(47) cDNA(47)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000020988 (Evidence)
Entrez Gene217666 (Evidence)
UniGene103362
DFCITC1578374
DoTSDT.101203397, DT.529857
NIA Mouse Gene IndexU034038
EC1.1.99.2
Consensus CDS ProjectCCDS25953.1
International Mouse Knockout Project StatusL2hgdh
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 217666 NCBI Gene Model | MGI Sequence Detail 34439 C57BL/6J ±  kb
transcript NM_145443 RefSeq | MGI Sequence Detail 3338 C57BL/6 
polypeptide Q91YP0 UniProt | EBI | MGI Sequence Detail 464 Not Applicable 

For the selected sequences
All sequences(19) RefSeq(2) UniProt(1)
Polymorphisms SNPs within 2kb(176 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006076 FAD dependent oxidoreductase
Protein Ontology PR:000009639 L-2-hydroxyglutarate dehydrogenase, mitochondrial
Graphical View of Protein Domain Structure
References (Earliest) J:93290 Araki K, et al., Exchangeable gene trap using the Cre/mutated lox system. Cell Mol Biol (Noisy-le-grand). 1999 Jul;45(5):737-50
(Latest) J:151002 Pagliarini DJ, et al., A mitochondrial protein compendium elucidates complex I disease biology. Cell. 2008 Jul 11;134(1):112-23
All references(33)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/12/2014
MGI 5.19
The Jackson Laboratory