L2HGDH (L-2-hydroxyglutarate dehydrogenase)

2008-12-01  

Identity

HGNC
L2HGDH
LOCATION
14q21.3
LOCUSID
79944
ALIAS
C14orf160,L2HGA
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79944
MIM: 609584
HGNC: 20499
Ensembl: ENSG00000087299

Variants:

dbSNP: 79944
ClinVar: 79944
TCGA: ENSG00000087299
COSMIC: L2HGDH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000087299ENST00000261699C9JVN9
ENSG00000087299ENST00000267436Q9H9P8
ENSG00000087299ENST00000421284Q9H9P8
ENSG00000087299ENST00000554191G3V3E2
ENSG00000087299ENST00000555423G3V272
ENSG00000087299ENST00000555610G3V5S1

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Butanoate metabolismKEGGko00650
Butanoate metabolismKEGGhsa00650
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Pyruvate metabolism and Citric Acid (TCA) cycleREACTOMER-HSA-71406
Interconversion of 2-oxoglutarate and 2-hydroxyglutarateREACTOMER-HSA-880009

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
153854402004L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.28
216254412011Screen for IDH1, IDH2, IDH3, D2HGDH and L2HGDH mutations in glioblastoma.24
200527672010An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.23
186711892008L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: neuroimaging findings.19
160051392006The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase.18
200205332010Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.18
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
178767202007Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid.13
183622862008A successfully treated adult patient with L-2-hydroxyglutaric aciduria.5
207270732011Mutational analysis of D2HGDH and L2HGDH in brain tumours without IDH1 or IDH2 mutations.4

Citation

Dessen P

L2HGDH (L-2-hydroxyglutarate dehydrogenase)

Atlas Genet Cytogenet Oncol Haematol. 2008-12-01

Online version: http://atlasgeneticsoncology.org/gene/50477/l2hgdh