Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1743
Gene name Gene Name - the full gene name approved by the HGNC.
Dihydrolipoamide S-succinyltransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DLST
Synonyms (NCBI Gene) Gene synonyms aliases
DLTS, KGD2, PGL7, PPGL7
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PPGL7
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q24.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
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
GO:0005634 Component Nucleus HDA 21630459
GO:0005634 Component Nucleus IDA 29211711
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
126063 2911 ENSG00000119689
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Paraganglioma paragangliomas 7 GenCC
Hereditary Pheochromocytoma-Paraganglioma hereditary pheochromocytoma-paraganglioma GenCC
Pyruvate Dehydrogenase Deficiency pyruvate dehydrogenase E1-alpha deficiency GenCC
Associations from Text Mining
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