Gene Gene information from NCBI Gene database.
Entrez ID 1743
Gene name Dihydrolipoamide S-succinyltransferase
Gene symbol DLST
Synonyms (NCBI Gene)
DLTSKGD2PGL7PPGL7
Chromosome 14
Chromosome location 14q24.3
Summary This gene encodes a mitochondrial protein that belongs to the 2-oxoacid dehydrogenase family. This protein is one of the three components (the E2 component) of the 2-oxoglutarate dehydrogenase complex that catalyzes the overall conversion of 2-oxoglutarat
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1270341616 G>A Pathogenic Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
358
miRTarBase ID miRNA Experiments Reference
MIRT048341 hsa-miR-106a-5p CLASH 23622248
MIRT045733 hsa-miR-125a-5p CLASH 23622248
MIRT042860 hsa-miR-324-3p CLASH 23622248
MIRT041111 hsa-miR-503-5p CLASH 23622248
MIRT040701 hsa-miR-92b-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0004149 Function Dihydrolipoyllysine-residue succinyltransferase activity IBA
GO:0004149 Function Dihydrolipoyllysine-residue succinyltransferase activity IEA
GO:0004149 Function Dihydrolipoyllysine-residue succinyltransferase activity IMP 30929736
GO:0004149 Function Dihydrolipoyllysine-residue succinyltransferase activity ISS
GO:0005515 Function Protein binding IPI 16169070, 29128334, 32814053
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
126063 2911 ENSG00000119689
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P36957
Protein name Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial (EC 2.3.1.61) (2-oxoglutarate dehydrogenase complex component E2) (OGDC-E2) (Dihydrolipoamide succinyltransferase component of 2-oxoglutarate
Protein function Dihydrolipoamide succinyltransferase (E2) component of the 2-oxoglutarate dehydrogenase complex. The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). The 2-oxoglutarate dehydrogen
PDB 6H05
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00364 Biotin_lipoyl 71 143 Biotin-requiring enzyme Domain
PF00198 2-oxoacid_dh 220 451 2-oxoacid dehydrogenases acyltransferase (catalytic domain) Domain
Sequence
Sequence length 453
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
27
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Pheochromocytoma/paraganglioma syndrome 7 Pathogenic rs1270341616 RCV000785999
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Conflicting classifications of pathogenicity rs200530358 RCV005920934
Clear cell carcinoma of kidney Likely benign rs61755652 RCV005931478
DLST-related disorder Uncertain significance; Likely benign; Benign rs769413082, rs766047735, rs375575781, rs373129809, rs61755652, rs2230237, rs2080087, rs20578, rs61741963, rs1402244328, rs201221488, rs772084092, rs145198857, rs181867568, rs750745041
View all (2 more)
RCV003954005
RCV003421086
RCV003392897
RCV003939079
RCV003929264
RCV003984400
RCV003981029
RCV003981030
RCV003929286
RCV003896778
RCV003904455
RCV003902052
RCV003959618
RCV003937261
RCV003934181
RCV003962292
RCV003928771
Hereditary pheochromocytoma and paraganglioma Uncertain significance rs148617142 RCV005356366
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 28181565
Cognitive Dysfunction Associate 30983028
Depressive Disorder Major Associate 40149491
Diabetes Mellitus Associate 37773841
Gaucher Disease Associate 34143178
Glioma Associate 40355831
Heart Injuries Associate 36988255
Inflammatory Bowel Diseases Associate 40149491
Multiple Myeloma Associate 38018590
Multiple Sclerosis Associate 29132538