Gene Gene information from NCBI Gene database.
Entrez ID 4967
Gene name Oxoglutarate dehydrogenase
Gene symbol OGDH
Synonyms (NCBI Gene)
AKGDHE1kE1oHsOGDHKGD1OGDCOGDH-E1OGDH2OGDHD
Chromosome 7
Chromosome location 7p13
Summary This gene encodes one subunit of the 2-oxoglutarate dehydrogenase complex. This complex catalyzes the overall conversion of 2-oxoglutarate (alpha-ketoglutarate) to succinyl-CoA and CO(2) during the Krebs cycle. The protein is located in the mitochondrial
miRNA miRNA information provided by mirtarbase database.
332
miRTarBase ID miRNA Experiments Reference
MIRT018112 hsa-miR-335-5p Microarray 18185580
MIRT028586 hsa-miR-30a-5p Proteomics 18668040
MIRT031751 hsa-miR-16-5p Proteomics 18668040
MIRT044084 hsa-miR-361-5p CLASH 23622248
MIRT701221 hsa-miR-4326 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
GO ID Ontology Definition Evidence Reference
GO:0004591 Function Oxoglutarate dehydrogenase (succinyl-transferring) activity IBA
GO:0004591 Function Oxoglutarate dehydrogenase (succinyl-transferring) activity IDA 24495017, 29211711
GO:0004591 Function Oxoglutarate dehydrogenase (succinyl-transferring) activity IEA
GO:0004591 Function Oxoglutarate dehydrogenase (succinyl-transferring) activity ISS
GO:0005515 Function Protein binding IPI 32814053
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613022 8124 ENSG00000105953
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q02218
Protein name 2-oxoglutarate dehydrogenase complex component E1 (E1o) (HsOGDH) (OGDC-E1) (OGDH-E1) (EC 1.2.4.2) (2-oxoglutarate dehydrogenase, mitochondrial) (Alpha-ketoglutarate dehydrogenase) (Alpha-KGDH-E1) (Thiamine diphosphate (ThDP)-dependent 2-oxoglutarate dehyd
Protein function 2-oxoglutarate dehydrogenase (E1o) component of the 2-oxoglutarate dehydrogenase complex (OGDHC) (PubMed:24495017, PubMed:25210035, PubMed:28435050). Participates in the first step, rate limiting for the overall conversion of 2-oxoglutarate to s
PDB 3ERY , 7WGR , 8I0K
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16078 2-oxogl_dehyd_N 47 87 2-oxoglutarate dehydrogenase N-terminus Family
PF00676 E1_dh 256 582 Dehydrogenase E1 component Family
PF02779 Transket_pyr 649 866 Transketolase, pyrimidine binding domain Domain
PF16870 OxoGdeHyase_C 869 1014 2-oxoglutarate dehydrogenase C-terminal Family
Sequence
MFHLRTCAAKLRPLTASQTVKTFSQNRPAAARTFQQIRCYSAPVAAEPFLSGTSSNYVEE
MYCAWLENPKSVHKSWDIFFRNTNAGA
PPGTAYQSPLPLSRGSLAAVAHAQSLVEAQPNV
DKLVEDHLAVQSLIRAYQIRGHHVAQLDPLGILDADLDSSVPADIISSTDKLGFYGLDES
DLDKVFHLPTTTFIGGQESALPLREIIRRLEMAYCQHIGVEFMFINDLEQCQWIRQKFET
PGIMQFTNEEKRTLLARLVRSTRFEEFLQRKWSSEKRFGLEGCEVLIPALKTIIDKSSEN
GVDYVIMGMPHRGRLNVLANVIRKELEQIFCQFDSKLEAADEGSGDVKYHLGMYHRRINR
VTDRNITLSLVANPSHLEAADPVVMGKTKAEQFYCGDTEGKKVMSILLHGDAAFAGQGIV
YETFHLSDLPSYTTHGTVHVVVNNQIGFTTDPRMARSSPYPTDVARVVNAPIFHVNSDDP
EAVMYVCKVAAEWRSTFHKDVVVDLVCYRRNGHNEMDEPMFTQPLMYKQIRKQKPVLQKY
AELLVSQGVVNQPEYEEEISKYDKICEEAFARSKDEKILHIK
HWLDSPWPGFFTLDGQPR
SMSCPSTGLTEDILTHIGNVASSVPVENFTIHGGLSRILKTRGEMVKNRTVDWALAEYMA
FGSLLKEGIHIRLSGQDVERGTFSHRHHVLHDQNVDKRTCIPMNHLWPNQAPYTVCNSSL
SEYGVLGFELGFAMASPNALVLWEAQFGDFHNTAQCIIDQFICPGQAKWVRQNGIVLLLP
HGMEGMGPEHSSARPERFLQMCNDDPDVLPDLKEANFDINQLYDCNWVVVNCSTPGNFFH
VLRRQILLPFRKPLIIFTPKSLLRHP
EARSSFDEMLPGTHFQRVIPEDGPAAQNPENVKR
LLFCTGKVYYDLTRERKARDMVGQVAITRIEQLSPFPFDLLLKEVQKYPNAELAWCQEEH
KNQGYYDYVKPRLRTTISRAKPVWYAGRDPAAAPATGNKKTHLTELQRLLDTAF
DLDVFK
NFS
Sequence length 1023
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
25
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
Oxoglutaricaciduria Pathogenic rs2116163953, rs2484850454, rs2484805251, rs2116155540 RCV001806691
RCV003152437
RCV003152438
RCV003152439
★★★★☆
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
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign; Likely benign ClinVar
★★☆☆☆
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
ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY Oxoglutaricaciduria GENOMICS_ENGLAND_DG 27604308
★☆☆☆☆
Found in Text Mining only
ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY Oxoglutaricaciduria ORPHANET_DG
★☆☆☆☆
Found in Text Mining only
ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY Oxoglutaricaciduria CTD_human_DG
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 8020988 Inhibit
★☆☆☆☆
Found in Text Mining only
Barth Syndrome Barth syndrome Pubtator 30251684 Associate
★☆☆☆☆
Found in Text Mining only
Basal Ganglia Diseases Basal ganglia disease Pubtator 26637184 Associate
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar disorder Pubtator 35821008 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 29988033
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 33564363 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 27468871
★☆☆☆☆
Found in Text Mining only