L2HGDH (L-2-hydroxyglutarate dehydrogenase) - Rat Genome Database

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Advanced Search (OLGA)
Gene: L2HGDH (L-2-hydroxyglutarate dehydrogenase) Homo sapiens
Analyze
Symbol: L2HGDH
Name: L-2-hydroxyglutarate dehydrogenase
RGD ID: 1314761
HGNC Page HGNC:20499
Description: Enables 2-hydroxyglutarate dehydrogenase activity. Involved in small molecule metabolic process. Located in membrane and mitochondrion. Implicated in 2-hydroxyglutaric aciduria; L-2-hydroxyglutaric aciduria; cerebellar ataxia; and hereditary spastic paraplegia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 2-hydroxyglutarate dehydrogenase; alpha-hydroxyglutarate oxidoreductase; alpha-ketoglutarate reductase; C14orf160; duranin; FLJ12618; L-2-hydroxyglutarate dehydrogenase, mitochondrial; L-alpha-hydroxyglutarate dehydrogenase; L2HGA
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381450,242,434 - 50,312,229 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1450,237,563 - 50,312,229 (-)EnsemblGRCh38hg38GRCh38
GRCh371450,709,152 - 50,778,947 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361449,778,902 - 49,848,697 (-)NCBINCBI36Build 36hg18NCBI36
Build 341449,782,932 - 49,848,697NCBI
Celera1430,576,287 - 30,646,077 (-)NCBICelera
Cytogenetic Map14q21.3NCBI
HuRef1430,834,630 - 30,904,412 (-)NCBIHuRef
CHM1_11450,647,804 - 50,717,581 (-)NCBICHM1_1
T2T-CHM13v2.01444,448,675 - 44,518,455 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model



  
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Original Reference(s)
L2HGDHHuman2-hydroxyglutaric aciduria  ISOL2hgdh (Mus musculus)13506815 RGD 
L2HGDHHuman2-hydroxyglutaric aciduria  IAGP 13506814DNA:mutations:exons:c.169G>A and c.542G>T(human)RGD 
L2HGDHHumancerebellar ataxia  IAGP 13506824DNA:mutation:cds:c.241A4G(p.K81E)(human)RGD 
L2HGDHHumanhereditary spastic paraplegia  IAGP 13506824DNA:mutation:cds:c.241A4G(p.K81E)(human)RGD 
L2HGDHHumanL-2-hydroxyglutaric aciduria  IAGP 13506824DNA:mutation:cds:c.241A4G(p.K81E)(human)RGD 
L2HGDHHumanL-2-hydroxyglutaric aciduria  IAGP 13506818DNA:mutations:exons:c.1015delA more ...RGD 
1 to 20 of 52 rows
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L2HGDHHumanBrain-Lung-Thyroid Syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Brain-lung-thyroid syndromeClinVarPMID:25741868
L2HGDHHumangenetic disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:25741868 more ...
L2HGDHHumangenetic disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:17981416 more ...
L2HGDHHumangenetic disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:25741868
L2HGDHHumangenetic disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:20052767 more ...
L2HGDHHumangenetic disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 
L2HGDHHumangenetic disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:28492532
L2HGDHHumangenetic disease  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:26467025 and PMID:28492532
L2HGDHHumangenetic disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:17576681 more ...
L2HGDHHumangenetic disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:25741868 and PMID:28492532
L2HGDHHumanL-2-hydroxyglutaric aciduria  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:25741868 and PMID:28492532
L2HGDHHumanL-2-hydroxyglutaric aciduria  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: L2HGDH-related conditionClinVarPMID:20052767 more ...
L2HGDHHumanL-2-hydroxyglutaric aciduria  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduriaClinVarPMID:25741868
L2HGDHHumanL-2-hydroxyglutaric aciduria  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduriaClinVarPMID:17981416 more ...
L2HGDHHumanL-2-hydroxyglutaric aciduria  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduriaClinVarPMID:20052767 more ...
L2HGDHHumanL-2-hydroxyglutaric aciduria  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:28492532
L2HGDHHumanL-2-hydroxyglutaric aciduria  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:28492532
L2HGDHHumanL-2-hydroxyglutaric aciduria  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduriaClinVarPMID:16134148 more ...
L2HGDHHumanL-2-hydroxyglutaric aciduria  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduriaClinVarPMID:16134148 more ...
L2HGDHHumanL-2-hydroxyglutaric aciduria  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduriaClinVarPMID:16134148 and PMID:28492532
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Original Reference(s)
L2HGDHHuman2-hydroxyglutaric aciduria  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:15385440 more ...
L2HGDHHumanepilepsy  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:15385440
L2HGDHHumanintellectual disability  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:21937992
L2HGDHHumanNervous System Malformations  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:15385440
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Original Reference(s)
L2HGDHHumanL-2-hydroxyglutaric aciduria  ISSL2hgdh (Mus musculus)13592920OMIM:236792MouseDO 
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Original Reference(s)
L2HGDHHumanL-2-hydroxyglutaric aciduria  IAGP 7240710 OMIM 

1 to 20 of 66 rows

  
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Original Reference(s)
L2HGDHHuman1,1-dichloroethene decreases expressionISOL2hgdh (Mus musculus)6480464vinylidene chloride results in decreased expression of L2HGDH mRNACTDPMID:26682919
L2HGDHHuman1,2-dichloroethane decreases expressionISOL2hgdh (Mus musculus)6480464ethylene dichloride results in decreased expression of L2HGDH mRNACTDPMID:28960355
L2HGDHHuman1,2-dimethylhydrazine decreases expressionISOL2hgdh (Mus musculus)64804641 and 2-Dimethylhydrazine results in decreased expression of L2HGDH mRNACTDPMID:22206623
L2HGDHHuman17beta-estradiol increases expressionEXP 6480464Estradiol results in increased expression of L2HGDH mRNACTDPMID:19167446
L2HGDHHuman17beta-estradiol decreases expressionISOL2hgdh (Mus musculus)6480464Estradiol results in decreased expression of L2HGDH mRNACTDPMID:39298647
L2HGDHHuman2,6-dinitrotoluene affects expressionISOL2hgdh (Rattus norvegicus)64804642 and 6-dinitrotoluene affects the expression of L2HGDH mRNACTDPMID:21346803
L2HGDHHuman2-hydroxyglutaric acid increases abundanceEXP 6480464L2HGDH gene mutant form results in increased abundance of alpha-hydroxyglutarateCTDPMID:25800467
L2HGDHHuman2-methylcholine affects expressionEXP 6480464beta-methylcholine affects the expression of L2HGDH mRNACTDPMID:21179406
L2HGDHHuman4,4'-sulfonyldiphenol affects expressionEXP 6480464bisphenol S affects the expression of L2HGDH proteinCTDPMID:31945527
L2HGDHHuman4,4'-sulfonyldiphenol increases expressionEXP 6480464bisphenol S results in increased expression of L2HGDH proteinCTDPMID:34186270
L2HGDHHuman5-methyl-4-oxido-2-pyrazin-4-iumcarboxylic acid decreases expressionEXP 6480464acipimox results in decreased expression of L2HGDH mRNACTDPMID:25352640
L2HGDHHumanacrylamide increases expressionISOL2hgdh (Rattus norvegicus)6480464Acrylamide results in increased expression of L2HGDH mRNACTDPMID:28959563
L2HGDHHumanAroclor 1254 decreases expressionISOL2hgdh (Mus musculus)6480464Chlorodiphenyl (54% Chlorine) results in decreased expression of L2HGDH mRNACTDPMID:23650126
L2HGDHHumanarsenite(3-) multiple interactionsEXP 6480464arsenite inhibits the reaction [G3BP1 protein binds to L2HGDH protein]CTDPMID:32406909
L2HGDHHumanatrazine increases expressionEXP 6480464Atrazine results in increased expression of L2HGDH mRNACTDPMID:22378314
L2HGDHHumanbenzo[a]pyrene diol epoxide I decreases expressionEXP 64804647 more ...CTDPMID:20018196
L2HGDHHumanbenzo[e]pyrene increases methylationEXP 6480464benzo(e)pyrene results in increased methylation of L2HGDH intronCTDPMID:30157460
L2HGDHHumanbisphenol A affects expressionISOL2hgdh (Rattus norvegicus)6480464bisphenol A affects the expression of L2HGDH mRNACTDPMID:25181051
L2HGDHHumanbisphenol A decreases methylationEXP 6480464bisphenol A results in decreased methylation of L2HGDH geneCTDPMID:31601247
L2HGDHHumanbisphenol A decreases expressionISOL2hgdh (Rattus norvegicus)6480464bisphenol A results in decreased expression of L2HGDH mRNACTDPMID:34947998

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Biological Process

  
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Original Reference(s)
L2HGDHHuman2-oxoglutarate metabolic process involved_inTAS 150520179 ReactomeReactome:R-HSA-880009
L2HGDHHumansmall molecule metabolic process involved_inIDA 150520179 PMID:16005139HGNC-UCLPMID:16005139

Cellular Component

  
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Original Reference(s)
L2HGDHHumanmembrane located_inIDA 150520179 PMID:16005139HGNC-UCLPMID:16005139
L2HGDHHumanmitochondrial inner membrane located_inTAS 150520179 ReactomeReactome:R-HSA-880050
L2HGDHHumanmitochondrial inner membrane located_inNAS 150520179 PMID:16005139HGNC-UCLPMID:16005139
L2HGDHHumanmitochondrion located_inIEAUniProtKB-SubCell:SL-0173150520179 UniProtGO_REF:0000044
L2HGDHHumanmitochondrion located_inIEAUniProtKB-KW:KW-0496150520179 UniProtGO_REF:0000043
L2HGDHHumanmitochondrion located_inHTP 150520179 PMID:34800366FlyBasePMID:34800366
L2HGDHHumanmitochondrion located_inIDA 150520179 PMID:16005139HGNC-UCLGO_REF:0000052 and PMID:16005139

Molecular Function

  
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Original Reference(s)
L2HGDHHuman2-hydroxyglutarate dehydrogenase activity enablesIBAFB:FBgn0032729 more ...150520179 GO_CentralGO_REF:0000033
L2HGDHHuman2-hydroxyglutarate dehydrogenase activity enablesEXP 150520179 PMID:16005139ReactomePMID:16005139
L2HGDHHuman2-hydroxyglutarate dehydrogenase activity enablesIEAEC:1.1.99.2150520179 UniProtGO_REF:0000003
L2HGDHHuman2-hydroxyglutarate dehydrogenase activity enablesIEARHEA:21252150520179 RHEAGO_REF:0000116
L2HGDHHuman2-hydroxyglutarate dehydrogenase activity enablesIDA 150520179 PMID:16005139HGNC-UCLPMID:16005139
L2HGDHHumanoxidoreductase activity enablesIEAUniProtKB-KW:KW-0560150520179 UniProtGO_REF:0000043
L2HGDHHumanoxidoreductase activity, acting on CH-OH group of donors enablesIEAARBA:ARBA00028437150520179 UniProtGO_REF:0000117

Imported Annotations - KEGG (archival)

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L2HGDHHumanbutanoate metabolic pathway  IEA 6907045 KEGGhsa:00650
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L2HGDHHumanDelayed speech and language development  IAGP 13506818DNA:mutations:exons:c.1015delA more ...RGD 
L2HGDHHumanGait disturbance  IAGP 13506818DNA:mutations:exons:c.1015delA more ...RGD 
L2HGDHHumanGlobal developmental delay  IAGP 13506818DNA:mutations:exons:c.1015delA more ...RGD 
L2HGDHHumanSeizure  IAGP 13506818associated with L-2-hydroxyglutaric aciduria more ...RGD 
1 to 20 of 35 rows
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L2HGDHHumanAbnormal pyramidal sign  IAGP 8699517 HPOMIM:236792
L2HGDHHumanAbnormal pyramidal tract morphology  IAGP 8699517 HPOMIM:236792
L2HGDHHumanAbnormality of extrapyramidal motor function  IAGP 8699517 HPOMIM:236792
L2HGDHHumanAbnormality of extrapyramidal motor function  IAGP 8699517 HPOORPHA:79314
L2HGDHHumanAphasia  IAGP 8699517 HPOMIM:236792
L2HGDHHumanAphasia  IAGP 8699517 HPOORPHA:79314
L2HGDHHumanAplasia/Hypoplasia of the cerebellum  IAGP 8699517 HPOORPHA:79314
L2HGDHHumanAtaxia  IAGP 8699517 HPOMIM:236792
L2HGDHHumanAtypical behavior  IAGP 8699517 HPOORPHA:79314
L2HGDHHumanAutosomal recessive inheritance  IAGP 8699517 HPOMIM:236792
L2HGDHHumanCerebellar atrophy  IAGP 8699517 HPOMIM:236792
L2HGDHHumanCorpus callosum atrophy  IAGP 8699517 HPOMIM:236792
L2HGDHHumanDevelopmental regression  IAGP 8699517 HPOMIM:236792
L2HGDHHumanGliosis  IAGP 8699517 HPOMIM:236792
L2HGDHHumanGlobal brain atrophy  IAGP 8699517 HPOMIM:236792
L2HGDHHumanHearing impairment  IAGP 8699517 HPOMIM:236792
L2HGDHHumanHypotonia  IAGP 8699517 HPOORPHA:79314
L2HGDHHumanInfantile onset  IAGP 8699517 HPOMIM:236792
L2HGDHHumanInfectious encephalitis  IAGP 8699517 HPOORPHA:79314
L2HGDHHumanIntellectual disability  IAGP 8699517 HPOMIM:236792
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1 to 20 of 244 rows
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L2HGDHHumanAbnormality of metabolism/homeostasis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Abnormality of metabolism/homeostasisClinVarPMID:25741868
L2HGDHHumanL-2-hydroxyglutaric aciduria  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduriaClinVarPMID:20052767 more ...
L2HGDHHumanL-2-hydroxyglutaric aciduria  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduriaClinVarPMID:20052767 more ...
L2HGDHHumanL-2-hydroxyglutaric aciduria  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduriaClinVarPMID:17981416 more ...
L2HGDHHumanL-2-hydroxyglutaric aciduria  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduriaClinVarPMID:25741868 and PMID:28492532
L2HGDHHumanL-2-hydroxyglutaric aciduria  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduriaClinVarPMID:25741868 and PMID:28492532
L2HGDHHumanL-2-hydroxyglutaric aciduria  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduriaClinVarPMID:16134148 more ...
L2HGDHHumanL-2-hydroxyglutaric aciduria  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduriaClinVarPMID:28492532
L2HGDHHumanL-2-hydroxyglutaric aciduria  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduriaClinVarPMID:16134148 more ...
L2HGDHHumanL-2-hydroxyglutaric aciduria  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduriaClinVarPMID:28492532
L2HGDHHumanL-2-hydroxyglutaric aciduria  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduriaClinVarPMID:28492532
L2HGDHHumanL-2-hydroxyglutaric aciduria  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduriaClinVarPMID:28492532
L2HGDHHumanL-2-hydroxyglutaric aciduria  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduriaClinVarPMID:26467025 and PMID:28492532
L2HGDHHumanL-2-hydroxyglutaric aciduria  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduriaClinVarPMID:28492532
L2HGDHHumanL-2-hydroxyglutaric aciduria  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduriaClinVarPMID:28492532
L2HGDHHumanL-2-hydroxyglutaric aciduria  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduriaClinVarPMID:28492532
L2HGDHHumanL-2-hydroxyglutaric aciduria  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduriaClinVarPMID:28492532
L2HGDHHumanL-2-hydroxyglutaric aciduria  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduriaClinVarPMID:28492532
L2HGDHHumanL-2-hydroxyglutaric aciduria  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduriaClinVarPMID:28492532
L2HGDHHumanL-2-hydroxyglutaric aciduria  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduriaClinVarPMID:28492532
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Reference Title
Reference Citation
1. Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds. Faiyaz-Ul-Haque M, etal., Ann Saudi Med. 2014 Mar-Apr;34(2):107-14. doi: 10.5144/0256-4947.2014.107.
2. 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. Jellouli NK, etal., J Hum Genet. 2014 Apr;59(4):216-22. doi: 10.1038/jhg.2014.4. Epub 2014 Feb 27.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8. A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair. Rzem R, etal., PLoS One. 2015 Mar 12;10(3):e0119540. doi: 10.1371/journal.pone.0119540. eCollection 2015.
9. A novel compound heterozygous mutation in a Chinese boy with L-2-hydroxyglutaric aciduria: a case study. Tai H and Zhang Z, BMC Neurol. 2015 Jul 25;15:117. doi: 10.1186/s12883-015-0369-2.
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PMID:6787330   PMID:8241290   PMID:12477932   PMID:14702039   PMID:15385440   PMID:15489334   PMID:15548604   PMID:16005139   PMID:16134148   PMID:17876720   PMID:18362286   PMID:18415700  
PMID:18671189   PMID:18780161   PMID:19911013   PMID:20020533   PMID:20052767   PMID:20727073   PMID:20852250   PMID:20877624   PMID:21625441   PMID:21873635   PMID:24347629   PMID:24501781  
PMID:24606602   PMID:26186194   PMID:26496610   PMID:26687479   PMID:26829733   PMID:27025967   PMID:27499296   PMID:28380382   PMID:28514442   PMID:28611215   PMID:29458334   PMID:29509190  
PMID:29980873   PMID:30217188   PMID:30833792   PMID:31091453   PMID:32101699   PMID:32235678   PMID:32628020   PMID:33545068   PMID:33567341   PMID:33845483   PMID:33961781   PMID:34800366  
PMID:35012549   PMID:35032548   PMID:35241646   PMID:35256949   PMID:35545034   PMID:35563538   PMID:36114006   PMID:36215168   PMID:36538041   PMID:36717926   PMID:36774506   PMID:37223481  
PMID:37317656   PMID:37378753   PMID:37689310   PMID:38777146  



L2HGDH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381450,242,434 - 50,312,229 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1450,237,563 - 50,312,229 (-)EnsemblGRCh38hg38GRCh38
GRCh371450,709,152 - 50,778,947 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361449,778,902 - 49,848,697 (-)NCBINCBI36Build 36hg18NCBI36
Build 341449,782,932 - 49,848,697NCBI
Celera1430,576,287 - 30,646,077 (-)NCBICelera
Cytogenetic Map14q21.3NCBI
HuRef1430,834,630 - 30,904,412 (-)NCBIHuRef
CHM1_11450,647,804 - 50,717,581 (-)NCBICHM1_1
T2T-CHM13v2.01444,448,675 - 44,518,455 (-)NCBIT2T-CHM13v2.0
L2hgdh
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391269,737,210 - 69,771,648 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1269,737,207 - 69,771,647 (-)EnsemblGRCm39 Ensembl
GRCm381269,690,436 - 69,724,874 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1269,690,433 - 69,724,873 (-)EnsemblGRCm38mm10GRCm38
MGSCv371270,791,423 - 70,825,861 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361270,609,057 - 70,643,423 (-)NCBIMGSCv36mm8
Celera1270,780,829 - 70,815,274 (-)NCBICelera
Cytogenetic Map12C2NCBI
cM Map1228.94NCBI
L2hgdh
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8693,900,427 - 93,941,534 (-)NCBIGRCr8
mRatBN7.2688,164,429 - 88,205,585 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl688,164,440 - 88,205,578 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx688,563,169 - 88,604,234 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0688,862,621 - 88,903,686 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0688,302,360 - 88,343,425 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0692,016,560 - 92,057,643 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl692,016,622 - 92,057,816 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06101,466,089 - 101,507,172 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4691,730,715 - 91,771,825 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1691,735,909 - 91,775,259 (-)NCBI
Celera686,659,422 - 86,700,511 (-)NCBICelera
Cytogenetic Map6q24NCBI
L2hgdh
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540912,485,003 - 12,535,098 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540912,485,003 - 12,531,759 (+)NCBIChiLan1.0ChiLan1.0
L2HGDH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21551,381,640 - 51,451,341 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11450,598,143 - 50,667,844 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01430,832,194 - 30,901,922 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11449,137,141 - 49,205,993 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1449,132,396 - 49,205,993 (-)Ensemblpanpan1.1panPan2
L2HGDH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1826,721,501 - 26,760,411 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl826,723,309 - 26,760,984 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha826,475,095 - 26,513,873 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0826,899,306 - 26,937,999 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl826,899,329 - 26,938,020 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1826,554,245 - 26,592,947 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0826,626,700 - 26,665,379 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0826,945,440 - 26,984,225 (-)NCBIUU_Cfam_GSD_1.0
L2hgdh
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864058,908,636 - 58,952,971 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649515,238,738 - 15,278,840 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649515,238,726 - 15,278,840 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
L2HGDH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1180,020,863 - 180,069,146 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11180,020,862 - 180,069,168 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21200,362,054 - 200,410,286 (-)NCBISscrofa10.2Sscrofa10.2susScr3
L2HGDH
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12427,314,306 - 27,383,379 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2427,314,283 - 27,383,342 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605315,638,882 - 15,706,112 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
L2hgdh
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473118,554,457 - 18,597,796 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473118,554,472 - 18,592,944 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

.

.
Variants in L2HGDH
269 total Variants

1 to 10 of 316 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
NM_024884.3(L2HGDH):c.752G>A (p.Arg251Gln) single nucleotide variant Inborn genetic diseases [RCV004639259]|L-2-hydroxyglutaric aciduria [RCV002525049]|not provided [RCV000516294] Chr14:50269317 [GRCh38]
Chr14:50736035 [GRCh37]
Chr14:14q21.3		 likely benign|uncertain significance
NM_024884.3(L2HGDH):c.553A>T (p.Ile185Phe) single nucleotide variant not provided [RCV000523761] Chr14:50284021 [GRCh38]
Chr14:50750739 [GRCh37]
Chr14:14q21.3		 likely pathogenic
NM_024884.3(L2HGDH):c.1115del (p.Met372fs) deletion L-2-hydroxyglutaric aciduria [RCV000001675] Chr14:50265439 [GRCh38]
Chr14:50732157 [GRCh37]
Chr14:14q21.3		 pathogenic
NM_024884.3(L2HGDH):c.906+1G>T single nucleotide variant L-2-hydroxyglutaric aciduria [RCV000001676] Chr14:50269162 [GRCh38]
Chr14:50735880 [GRCh37]
Chr14:14q21.3		 pathogenic
L2HGDH, EX1-9DEL deletion L-2-hydroxyglutaric aciduria [RCV000001678] Chr14:50000000..50247254 [GRCh38]
Chr14:14q21.3		 pathogenic
NM_024884.3(L2HGDH):c.1003C>T (p.Arg335Ter) single nucleotide variant L-2-hydroxyglutaric aciduria [RCV000023778] Chr14:50267814 [GRCh38]
Chr14:50734532 [GRCh37]
Chr14:14q21.3		 pathogenic
NM_024884.3(L2HGDH):c.905C>T (p.Pro302Leu) single nucleotide variant L-2-hydroxyglutaric aciduria [RCV000001674]|not provided [RCV002274874] Chr14:50269164 [GRCh38]
Chr14:50735882 [GRCh37]
Chr14:14q21.3		 pathogenic|likely pathogenic
NM_024884.3(L2HGDH):c.164G>A (p.Gly55Asp) single nucleotide variant L-2-hydroxyglutaric aciduria [RCV000001677]|L2HGDH-related disorder [RCV003398413] Chr14:50302994 [GRCh38]
Chr14:50769712 [GRCh37]
Chr14:14q21.3		 pathogenic|likely pathogenic
NM_024884.3(L2HGDH):c.293A>G (p.His98Arg) single nucleotide variant L-2-hydroxyglutaric aciduria [RCV000001679]|not provided [RCV000522298] Chr14:50302132 [GRCh38]
Chr14:50768850 [GRCh37]
Chr14:14q21.3		 pathogenic|likely pathogenic
GRCh38/hg38 14q21.3-22.1(chr14:50091150-51777325)x3 copy number gain See cases [RCV000052059] Chr14:50091150..51777325 [GRCh38]
Chr14:50557868..52244043 [GRCh37]
Chr14:49627618..51313793 [NCBI36]
Chr14:14q21.3-22.1		 uncertain significance
1 to 10 of 316 rows

Predicted Target Of
Summary Value
Count of predictions:1429
Count of miRNA genes:791
Interacting mature miRNAs:907
Transcripts:ENST00000261699, ENST00000267436, ENST00000421284, ENST00000554191, ENST00000555423, ENST00000555610, ENST00000556393
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


1 to 10 of 20 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
597309819GWAS1405893_H2-hydroxyglutarate measurement QTL GWAS1405893 (human)6e-122-hydroxyglutarate measurement145031071250310713Human
597255547GWAS1351621_Hserum alanine aminotransferase measurement QTL GWAS1351621 (human)3e-25serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)145026922950269230Human
597096336GWAS1192410_Hsex hormone-binding globulin measurement QTL GWAS1192410 (human)6e-15sex hormone-binding globulin measurement145026922950269230Human
597425075GWAS1521149_Hsystolic blood pressure QTL GWAS1521149 (human)3e-17systolic blood pressuresystolic blood pressure (CMO:0000004)145026922950269230Human
597201809GWAS1297883_Hsystolic blood pressure QTL GWAS1297883 (human)3e-26systolic blood pressuresystolic blood pressure (CMO:0000004)145026922950269230Human
597346256GWAS1442330_Hurate measurement QTL GWAS1442330 (human)4e-15urate measurementblood uric acid level (CMO:0000501)145026922950269230Human
597168914GWAS1264988_Haspartate aminotransferase measurement QTL GWAS1264988 (human)5e-36aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)145026922950269230Human
597131100GWAS1227174_Hpulse pressure measurement QTL GWAS1227174 (human)2e-12mean arterial pressuremean arterial blood pressure (CMO:0000009)145026922950269230Human
597344854GWAS1440928_Hurate measurement QTL GWAS1440928 (human)2e-14urate measurementblood uric acid level (CMO:0000501)145026922950269230Human
597427442GWAS1523516_Hgout QTL GWAS1523516 (human)1e-10gout145026922950269230Human

1 to 10 of 20 rows
G35689  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371450,775,680 - 50,775,800UniSTSGRCh37
Build 361449,845,430 - 49,845,550RGDNCBI36
Celera1430,642,809 - 30,642,929RGD
Cytogenetic Map14q21.3UniSTS
HuRef1430,901,155 - 30,901,265UniSTS
RH44101  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371450,713,291 - 50,713,446UniSTSGRCh37
Build 361449,783,041 - 49,783,196RGDNCBI36
Celera1430,580,427 - 30,580,582RGD
Cytogenetic Map14q21.3UniSTS
HuRef1430,838,775 - 30,838,930UniSTS
GeneMap99-GB4 RH Map14113.1UniSTS
NCBI RH Map14461.5UniSTS
G35769  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371450,732,914 - 50,733,026UniSTSGRCh37
Build 361449,802,664 - 49,802,776RGDNCBI36
Celera1430,600,054 - 30,600,166RGD
Cytogenetic Map14q21.3UniSTS
HuRef1430,858,393 - 30,858,505UniSTS
L18426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map12q24.1-q24.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p24.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map20p11.21UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map9p21.1UniSTS




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 6 624 1946 465 2269 7301 6467 53 3734 1 852 1744 1617 175 1


1 to 30 of 34 rows
RefSeq Transcripts NG_008092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001425212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001425213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001425214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001425215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001425216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001425217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001425218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007064046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007064047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK022680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL109758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX879594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY757363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 30 of 34 rows

Ensembl Acc Id: ENST00000261699   ⟹   ENSP00000261699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1450,237,563 - 50,312,168 (-)Ensembl
Ensembl Acc Id: ENST00000267436   ⟹   ENSP00000267436
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1450,242,434 - 50,312,229 (-)Ensembl
Ensembl Acc Id: ENST00000421284   ⟹   ENSP00000405559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1450,245,651 - 50,312,229 (-)Ensembl
Ensembl Acc Id: ENST00000554191   ⟹   ENSP00000451194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1450,294,198 - 50,312,226 (-)Ensembl
Ensembl Acc Id: ENST00000555423   ⟹   ENSP00000450494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1450,282,443 - 50,312,226 (-)Ensembl
Ensembl Acc Id: ENST00000555610   ⟹   ENSP00000452483
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1450,283,853 - 50,312,154 (-)Ensembl
Ensembl Acc Id: ENST00000556393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1450,302,017 - 50,312,147 (-)Ensembl
RefSeq Acc Id: NM_001425212   ⟹   NP_001412141
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381450,242,434 - 50,312,229 (-)NCBI
T2T-CHM13v2.01444,448,675 - 44,518,455 (-)NCBI
RefSeq Acc Id: NM_001425213   ⟹   NP_001412142
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381450,242,434 - 50,312,229 (-)NCBI
T2T-CHM13v2.01444,448,675 - 44,518,455 (-)NCBI
RefSeq Acc Id: NM_001425214   ⟹   NP_001412143
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381450,242,434 - 50,312,229 (-)NCBI
T2T-CHM13v2.01444,448,675 - 44,518,455 (-)NCBI
RefSeq Acc Id: NM_001425215   ⟹   NP_001412144
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381450,242,434 - 50,312,229 (-)NCBI
T2T-CHM13v2.01444,448,675 - 44,518,455 (-)NCBI
RefSeq Acc Id: NM_001425216   ⟹   NP_001412145
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381450,242,434 - 50,312,229 (-)NCBI
T2T-CHM13v2.01444,448,675 - 44,518,455 (-)NCBI
RefSeq Acc Id: NM_001425217   ⟹   NP_001412146
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381450,242,434 - 50,312,229 (-)NCBI
T2T-CHM13v2.01444,448,675 - 44,518,455 (-)NCBI
RefSeq Acc Id: NM_001425218   ⟹   NP_001412147
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381450,242,434 - 50,312,229 (-)NCBI
T2T-CHM13v2.01444,448,675 - 44,518,455 (-)NCBI
RefSeq Acc Id: NM_024884   ⟹   NP_079160
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381450,242,434 - 50,312,229 (-)NCBI
GRCh371450,704,285 - 50,778,947 (-)NCBI
Build 361449,778,902 - 49,848,697 (-)NCBI Archive
HuRef1430,834,630 - 30,904,412 (-)ENTREZGENE
CHM1_11450,647,804 - 50,717,581 (-)NCBI
T2T-CHM13v2.01444,448,675 - 44,518,455 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011537167   ⟹   XP_011535469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381450,242,434 - 50,309,335 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011537168   ⟹   XP_011535470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381450,242,434 - 50,287,258 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017021655   ⟹   XP_016877144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381450,242,434 - 50,311,955 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054376725   ⟹   XP_054232700
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01444,448,675 - 44,518,109 (-)NCBI
RefSeq Acc Id: XM_054376726   ⟹   XP_054232701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01444,448,675 - 44,515,561 (-)NCBI
RefSeq Acc Id: XM_054376727   ⟹   XP_054232702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01444,448,675 - 44,493,497 (-)NCBI
RefSeq Acc Id: XR_007064046
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381450,278,448 - 50,312,229 (-)NCBI
RefSeq Acc Id: XR_007064047
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381450,269,287 - 50,312,229 (-)NCBI
RefSeq Acc Id: XR_008488897
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01444,475,521 - 44,518,455 (-)NCBI
1 to 5 of 20 rows
1 to 5 of 20 rows
RefSeq Acc Id: NP_079160   ⟸   NM_024884
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9BRR1 (UniProtKB/Swiss-Prot),   Q9H9P8 (UniProtKB/Swiss-Prot),   A8K9B2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011535469   ⟸   XM_011537167
- Peptide Label: isoform X3
- UniProtKB: A8K9B2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011535470   ⟸   XM_011537168
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016877144   ⟸   XM_017021655
- Peptide Label: isoform X2
- UniProtKB: A8K9B2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000452483   ⟸   ENST00000555610
FAD dependent oxidoreductase

Name Modeler Protein Id AA Range Protein Structure
AF-Q9H9P8-F1-model_v2 AlphaFold Q9H9P8 1-463 view protein structure

RGD ID:6791717
Promoter ID:HG_KWN:19336
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001003803,   NM_001003805,   NM_015684,   NM_024884,   OTTHUMT00000276871
Position:
Human AssemblyChrPosition (strand)Source
Build 361449,848,066 - 49,849,857 (-)MPROMDB
RGD ID:7227553
Promoter ID:EPDNEW_H19522
Type:initiation region
Name:L2HGDH_1
Description:L-2-hydroxyglutarate dehydrogenase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381450,312,226 - 50,312,286EPDNEW


1 to 30 of 30 rows
Database
Acc Id
Source(s)
COSMIC L2HGDH COSMIC
Ensembl Genes ENSG00000087299 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000267436 ENTREZGENE
  ENST00000267436.9 UniProtKB/Swiss-Prot
  ENST00000421284 ENTREZGENE
  ENST00000421284.7 UniProtKB/Swiss-Prot
Gene3D-CATH 3.50.50.60 UniProtKB/Swiss-Prot
  D-Amino Acid Oxidase, subunit A, domain 2 UniProtKB/Swiss-Prot
GTEx ENSG00000087299 GTEx
HGNC ID HGNC:20499 ENTREZGENE
Human Proteome Map L2HGDH Human Proteome Map
InterPro FAD-dep_OxRdtase UniProtKB/Swiss-Prot
  FAD/NAD-bd_sf UniProtKB/Swiss-Prot
KEGG Report hsa:79944 UniProtKB/Swiss-Prot
NCBI Gene 79944 ENTREZGENE
OMIM 609584 OMIM
PANTHER L-2-HYDROXYGLUTARATE DEHYDROGENASE, MITOCHONDRIAL UniProtKB/Swiss-Prot
  L-2-HYDROXYGLUTARATE DEHYDROGENASE, MITOCHONDRIAL UniProtKB/Swiss-Prot
Pfam DAO UniProtKB/Swiss-Prot
PharmGKB PA134971279 PharmGKB
Superfamily-SCOP SSF51905 UniProtKB/Swiss-Prot
UniProt A8K9B2 ENTREZGENE, UniProtKB/TrEMBL
  C9JVN9_HUMAN UniProtKB/TrEMBL
  G3V272_HUMAN UniProtKB/TrEMBL
  G3V3E2_HUMAN UniProtKB/TrEMBL
  G3V5S1_HUMAN UniProtKB/TrEMBL
  L2HDH_HUMAN UniProtKB/Swiss-Prot
  Q9BRR1 ENTREZGENE
  Q9H9P8 ENTREZGENE
UniProt Secondary Q9BRR1 UniProtKB/Swiss-Prot
1 to 30 of 30 rows