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Tbio
L2HGDH
L-2-hydroxyglutarate dehydrogenase, mitochondrial

Protein Summary
Description
This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe cognitive disability. [provided by RefSeq, Jul 2008]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000267436
  • ENSP00000267436
  • ENSG00000087299
  • ENST00000421284
  • ENSP00000405559

Symbol
  • C14orf160
  • L2HGA
  • C14orf160
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
histone modification site profile
0.93
disease perturbation
0.74
microRNA
0.74
cellular component
0.68
tissue sample
0.68


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 56.86   (req: < 5)
Gene RIFs: 19   (req: <= 3)
Antibodies: 163   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 56.86   (req: >= 5)
Gene RIFs: 19   (req: > 3)
Antibodies: 163   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 4
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (3)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
sex hormone-binding globulin measurement
2
1
2
86.1
systolic blood pressure
1
1
1
65.7
glomerular filtration rate
4
1
4
5.5
55.8
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
sex hormone-binding globulin measurement
2
86.1
systolic blood pressure
1
65.7
glomerular filtration rate
4
5.5
55.8
Orthologs (14)
1 – 5 of 14
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
L-2-hydroxyglutarate dehydrogenase
VGNC:3399
452898
Macaque
L-2-hydroxyglutarate dehydrogenase
705721
Mouse
MGI:2384968
217666
Rat
RGD:1306250
314196
Dog
L-2-hydroxyglutarate dehydrogenase
VGNC:50542
480316
Species
Name
OMA
EggNOG
Inparanoid
Chimp
L-2-hydroxyglutarate dehydrogenase
Macaque
L-2-hydroxyglutarate dehydrogenase
Mouse
Rat
Dog
L-2-hydroxyglutarate dehydrogenase
Pathways (7)
Interconversion of 2-oxoglutarate and 2-hydroxyglutarate (R-HSA-880009)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 4 of 4
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Interconversion of 2-oxoglutarate and 2-hydroxyglutarate
Reactome
Metabolism
Reactome
Pyruvate metabolism and Citric Acid (TCA) cycle
Reactome
The citric acid (TCA) cycle and respiratory electron transport
Name
Explore in Pharos
Explore in Source
Interconversion of 2-oxoglutarate and 2-hydroxyglutarate
Metabolism
Pyruvate metabolism and Citric Acid (TCA) cycle
The citric acid (TCA) cycle and respiratory electron transport
Protein-Protein Interactions (64)
1 – 10 of 64
A2ML1
Tbio
Novelty: 0.05923067
p_int: 0.999926198
p_ni: 0.000073797
p_wrong: 6e-9
Score: 0.317
Data Source: BioPlex,STRINGDB
LCN2
Tbio
Family: Enzyme
Novelty: 0.00034678
p_int: 0.994403432
p_ni: 0.001567059
p_wrong: 0.004029509
Score: 0.228
Data Source: BioPlex,STRINGDB
IVL
Tbio
Novelty: 0.00147892
p_int: 0.946284186
p_ni: 0.053715742
p_wrong: 7.2e-8
Score: 0.183
Data Source: BioPlex,STRINGDB
KLK10
Tbio
Family: Enzyme
Novelty: 0.00899521
p_int: 0.936894611
p_ni: 0.061468661
p_wrong: 0.001636728
Score: 0.204
Data Source: BioPlex,STRINGDB
CTSV
Tchem
Family: Enzyme
Novelty: 0.00916301
p_int: 0.907787335
p_ni: 0.069170572
p_wrong: 0.023042093
Score: 0.181
Data Source: BioPlex,STRINGDB
ITGB8
Tbio
Novelty: 0.01564348
p_int: 0.872775376
p_ni: 0.127224624
Score: 0.188
Data Source: BioPlex,STRINGDB
ACPP
Tchem
Family: Enzyme
Novelty: 0.00364265
p_int: 0.829447835
p_ni: 0.040360956
p_wrong: 0.130191209
Score: 0.179
Data Source: BioPlex,STRINGDB
TGM1
Tchem
Family: Enzyme
Novelty: 0.00103799
p_int: 0.801909485
p_ni: 0.198090515
Score: 0.193
Data Source: BioPlex,STRINGDB
SERPINB4
Tbio
Novelty: 0.00522283
p_int: 0.774778162
p_ni: 0.225221838
Data Source: BioPlex
D2HGDH
Tbio
Family: Enzyme
Novelty: 0.04618268
Score: 0.888
Data Source: STRINGDB
Publication Statistics
PubMed Score  56.86

PubMed score by year
PubTator Score  50.75

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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