Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79944
Gene name Gene Name - the full gene name approved by the HGNC.
L-2-hydroxyglutarate dehydrogenase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
L2HGDH
Synonyms (NCBI Gene) Gene synonyms aliases
C14orf160, L2HGA
Disease Acronyms (UniProt) Disease acronyms from UniProt database
L2HGA
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q21.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs118204020 G>A Pathogenic Missense variant, coding sequence variant, genic downstream transcript variant
rs118204021 C>T Pathogenic Missense variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant
rs150299874 C>T Pathogenic Splice donor variant, genic upstream transcript variant
rs267607206 T>A,C Pathogenic, likely-pathogenic Coding sequence variant, missense variant, genic upstream transcript variant, 5 prime UTR variant
rs387907013 G>A Pathogenic Coding sequence variant, genic downstream transcript variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020698 hsa-miR-155-5p Proteomics 18668040
MIRT024689 hsa-miR-215-5p Microarray 19074876
MIRT026454 hsa-miR-192-5p Microarray 19074876
MIRT050528 hsa-miR-20a-5p CLASH 23622248
MIRT564243 hsa-miR-4506 HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003973 Function (S)-2-hydroxy-acid oxidase activity IBA 21873635
GO:0005739 Component Mitochondrion IBA 21873635
GO:0005739 Component Mitochondrion IDA 16005139
GO:0005743 Component Mitochondrial inner membrane TAS
GO:0006103 Process 2-oxoglutarate metabolic process TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609584 20499 ENSG00000087299
Protein
UniProt ID Q9H9P8
Protein name L-2-hydroxyglutarate dehydrogenase, mitochondrial (EC 1.1.99.2) (Duranin)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01266 DAO 50 456 FAD dependent oxidoreductase Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Highly expressed in brain, testis and muscle. Expressed to a lower extent in lymphocytes, fibroblasts, keratinocytes, placenta, bladder, small intestine, liver and bone marrow. {ECO:0000269|PubMed:15385440}.
Sequence
Sequence length 463
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Butanoate metabolism
Metabolic pathways
  Interconversion of 2-oxoglutarate and 2-hydroxyglutarate
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anencephaly Cranioschisis rs773607884 15385440
Developmental regression Developmental regression rs1224421127
Epilepsy Epilepsy, Epilepsy, Cryptogenic, Awakening Epilepsy rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670
View all (165 more)
15385440
Mental retardation Profound Mental Retardation, Severe intellectual disability, Mental deficiency, Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
21937992
Unknown
Disease term Disease name Evidence References Source
Spastic tetraparesis Spastic tetraparesis ClinVar
Mitochondrial Diseases mitochondrial disease GenCC
Gout Gout GWAS
Hypertension Hypertension GWAS
Associations from Text Mining
Disease Name Relationship Type References
2 Hydroxyglutaricaciduria Associate 15548604, 22030381, 24894778, 26208971, 29458334, 30217188, 34719772
2 Hydroxyglutaricaciduria Stimulate 29458334
Brain Neoplasms Associate 24894778
Carcinoma Renal Cell Associate 25182153, 33077781
Colorectal Neoplasms Associate 36879117
Dyskinesia Drug Induced Associate 22030381
Head and Neck Neoplasms Associate 39684472
Hypoxia Associate 36879117
Intellectual Disability Associate 35456504
Kidney Neoplasms Associate 25182153