Property Summary

NCBI Gene PubMed Count 26
PubMed Score 57.48
PubTator Score 48.50

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
osteosarcoma 1.323 0.001
non-small cell lung cancer 1.203 0.000
ovarian cancer -1.600 0.000

Synonym

Accession Q9H9P8 Q9BRR1
Symbols L2HGA
C14orf160

Gene

PANTHER Protein Class (2)

Gene RIF (18)

PMID Text
26829733 c.845G>A (p.R282Q) in the exon 7 of the L2HGDH gene is associated with 2-hydroxyglutaric aciduria in Chinese family.
24606602 modest increases in intracellular 2-HG in acute myeloid leukaemia cells, as seen with the rs11554137 SNP, might enhance chemoresistance, or promote acquisition of leukaemia-iniating mutations
24573090 Intragenic single nucleotide length polymorphisms and two extragenic microsatellites flanking the L2HGDH gene confirm the founder effect of c.241A>G mutation in the 14 studied cases.
21625441 L2HGDH mutation is not associated with glioblastoma.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20852250 Exonic mutations in the L2HGDH gene in Staffordshire bull terriers have been identified and associated with epilepsy.
20727073 We did not find evidence for mutations in the genes D2HGDH and L2HGDH as an alternative mechanism for raised 2-hydroxyglutarate levels in brain tumours
20727073 Observational study of gene-disease association. (HuGE Navigator)
20052767 The phenotype, including neurological manifestations and urinary levels of alpha-hydroxyglutarate, is reported and the phenotype-genotype relationship, is evaluated.
20020533 analysis of genetic heterogeneity in D-2-hydroxyglutaric aciduria
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AA Sequence

MVPALRYLVGACGRARGLFAGGSPGACGFASGRPRPLCGGSRSASTSSFDIVIVGGGIVGLASARALILR      1 - 70
HPSLSIGVLEKEKDLAVHQTGHNSGVIHSGIYYKPESLKAKLCVQGAALLYEYCQQKGISYKQCGKLIVA     71 - 140
VEQEEIPRLQALYEKGLQNGVPGLRLIQQEDIKKKEPYCRGLMAIDCPHTGIVDYRQVALSFAQDFQEAG    141 - 210
GSVLTNFEVKGIEMAKESPSRSIDGMQYPIVIKNTKGEEIRCQYVVTCAGLYSDRISELSGCTPDPRIVP    211 - 280
FRGDYLLLKPEKCYLVKGNIYPVPDSRFPFLGVHFTPRMDGSIWLGPNAVLAFKREGYRPFDFSATDVMD    281 - 350
IIINSGLIKLASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRGPAGVRAQALDRDGNLVEDFV    351 - 420
FDAGVGDIGNRILHVRNAPSPAATSSIAISGMIADEVQQRFEL                               421 - 463
//

Text Mined References (30)

PMID Year Title
26829733 2016 [Analysis of L2HGDH gene mutation in a patient with 2-hydroxyglutaric aciduria].
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24606602 2014 Elevated plasma 2-hydroxyglutarate in acute myeloid leukaemia: association with the IDH1 SNP rs11554137 and severe renal impairment.
24573090 2014 Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria.
24347629 2014 Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
21625441 2011 Screen for IDH1, IDH2, IDH3, D2HGDH and L2HGDH mutations in glioblastoma.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20852250 2010 Exonic mutations in the L2HGDH gene in Staffordshire bull terriers.
More...