Gene Information
|
Gene Name
|
L2HGDH |
|
Gene ID
|
79944
|
|
Gene Full Name
|
L-2-hydroxyglutarate dehydrogenase |
|
Gene Alias
|
C14orf160|L2HGA |
|
Transcripts
|
ENSG00000087299
|
|
Virus
|
HBV |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
Mitochondria;
|
|
Membrane Info
|
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins |
|
Uniport_ID
|
Q9H9P8
|
|
HGNC ID
|
HGNC:20499
|
|
OMIM ID
|
609584 |
|
Summary
|
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] |
Target gene [L2HGDH] related to VISs
Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section
| DVID |
Chromosome |
HM |
TFBS |
CA |
Sum of Overlapped Records |
Detail |
| 1005740 |
chr14 |
6 |
41 |
1 |
48 |
View |
Target gene [L2HGDH] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
GSE236281
|
RNA-seq |
12 |
Illumina MiSeq (Homo sapiens) |
|
C GSE35465
|
Chip-seq;RNA-seq |
6 |
Illumina HiSeq 2000 (Homo sapiens) |
|
TCGA_LIHC_HBV
|
DNA methylation sequencing;RNA-seq |
97 |
TCGA |
|
GSE224901
|
RNA-seq |
21 |
Illumina NovaSeq 6000 (Homo sapiens) |
|
E GSE100400
|
Chip-seq;RNA-seq;4C_cccDNA |
31 |
Illumina NextSeq 500 (Homo sapiens);Illumina NextSeq 500 (Mus musculus) |
|
GSE173897
|
RNA-seq |
95 |
Illumina HiSeq 4000 (Homo sapiens) |
|
GSE262515
|
RNA-seq |
21 |
Illumina HiSeq 2500 (Homo sapiens);Illumina HiSeq 2500 (Mus musculus) |
|
GSE110345
|
RNA-seq |
4 |
Illumina HiSeq 2500 (Homo sapiens) |
|
GSE131257
|
ATAC-seq;RNA-seq |
19 |
Illumina HiSeq 2500 (Homo sapiens) |
|
GSE94660
|
RNA-seq |
42 |
Illumina HiSeq 2500 (Homo sapiens) |
When the query gene is differentially changed in the dataset, a volcano/bar plot will be displayed.
> Dataset: GSE100400 - L2HGDH expression across samples
|
Volcano Plot
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Bar Plot
|
|
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