Gene Gene information from NCBI Gene database.
Entrez ID 79944
Gene name L-2-hydroxyglutarate dehydrogenase
Gene symbol L2HGDH
Synonyms (NCBI Gene)
C14orf160L2HGA
Chromosome 14
Chromosome location 14q21.3
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
SNPs SNP information provided by dbSNP.
14
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.
1683
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA 16005139
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane NAS 16005139
GO:0005743 Component Mitochondrial inner membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609584 20499 ENSG00000087299
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormality of metabolism/homeostasis Likely pathogenic rs2030444679 RCV001814291
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
L-2-hydroxyglutaric aciduria Pathogenic; Likely pathogenic rs1889521207, rs2139977488, rs2139242065, rs1477101414, rs748910382, rs759631551, rs118204020, rs786200869, rs786200870, rs118204021, rs267607206, rs2502517059, rs547796370, rs970541687, rs771556952
View all (21 more)
RCV001329380
RCV001728181
RCV001824109
RCV001842234
RCV002012278
View all (31 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
L2HGDH-related disorder Likely pathogenic; Pathogenic rs118204021 RCV003398413
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CEREBELLAR ATAXIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMBINED D-2-HYDROXYGLUTARIC ACIDURIA AND L-2-HYDROXYGLUTARIC ACIDURIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
D-2-HYDROXYGLUTARIC ACIDURIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Atrophy of corpus callosum Atrophy Of Corpus Callosum HPO_DG
★☆☆☆☆
Found in Text Mining only
Awakening Epilepsy Epilepsy CTD_human_DG 15385440
★☆☆☆☆
Found in Text Mining only
Binswanger Disease Binswanger Disease BEFREE 18671189
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 18671189
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms LHGDN 18671189
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain neoplasms Pubtator 24894778 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 25182153, 33077781 Associate
★☆☆☆☆
Found in Text Mining only
Cerebellar atrophy Cerebellar atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 36879117 Associate
★☆☆☆☆
Found in Text Mining only
Congenital neurologic anomalies Drachtman Weinblatt Sitarz syndrome CTD_human_DG 15385440
★★☆☆☆
Found in Text Mining + Unknown/Other Associations