OGDHL (oxoglutarate dehydrogenase L)

Gene Gene information from NCBI Gene database.
Gene SNPs Other IDs Associated diseases
Entrez ID 55753
Gene name Oxoglutarate dehydrogenase L
Gene symbol OGDHL
Synonyms (NCBI Gene)
YOBELN
Chromosome 10
Chromosome location 10q11.23
Summary The protein encoded by this gene is similar to oxoglutarate dehydrogenase (OGDH) of the OGDH complex, which degrades glucose and glutamate. This gene encodes several isoforms, including some that appear to localize to mitochondria. The encoded protein dow
SNPs SNP information provided by dbSNP.
1
Gene SNPs Other IDs Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs773888308 G>A,C Uncertain-significance, likely-pathogenic Coding sequence variant, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
15
Gene SNPs Other IDs Associated diseases
Show/Hide all (15)
miRTarBase ID miRNA Experiments Reference
MIRT018923 hsa-miR-335-5p Microarray 18185580
MIRT038289 hsa-miR-130b-5p CLASH 23622248
MIRT734172 hsa-miR-193a-5p Immunohistochemistry (IHC)Luciferase reporter assayqRT-PCRWestern blotting 32489562
MIRT2058523 hsa-miR-3064-5p CLIP-seq
MIRT2058524 hsa-miR-3162-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
Gene SNPs Other IDs Associated diseases
Show/Hide all (17)
GO ID Ontology Definition Evidence Reference
GO:0004591 Function Oxoglutarate dehydrogenase (succinyl-transferring) activity IBA
GO:0004591 Function Oxoglutarate dehydrogenase (succinyl-transferring) activity IEA
GO:0005515 Function Protein binding IPI 21988832, 32296183
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
617513 25590 ENSG00000197444
Protein Protein information from UniProt database.
Gene SNPs Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9ULD0
Protein name 2-oxoglutarate dehydrogenase-like, mitochondrial (EC 1.2.4.2) (2-oxoglutarate dehydrogenase complex component E1-like) (OGDC-E1-like) (Alpha-ketoglutarate dehydrogenase-like)
Protein function 2-oxoglutarate dehydrogenase (E1-like) component of the 2-oxoglutarate dehydrogenase multienzyme complex (OGDHC) which mediates the decarboxylation of alpha-ketoglutarate in the tricarboxylic acid cycle. The OGDHC complex catalyzes the overall c
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16078 2-oxogl_dehyd_N 42 → 81 2-oxoglutarate dehydrogenase N-terminus Family
PF00676 E1_dh 243 → 569 Dehydrogenase E1 component Family
PF02779 Transket_pyr 636 → 852 Transketolase, pyrimidine binding domain Domain
PF16870 OxoGdeHyase_C 855 → 1000 2-oxoglutarate dehydrogenase C-terminal Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the brain and the liver. {ECO:0000269|PubMed:23152800, ECO:0000269|PubMed:31175094}.
Sequence 
MSQLRLLPSRLGVQAARLLAAHDVPVFGWRSRSSGPPATFPSSKGGGGSSYMEEMYFAWL
ENPQSVHKSWDSFFREASEEAFSGSAQPRPPSVVHESRSAVSSRTKTSKLVEDHLAVQSL
IRAYQIRGHHVAQLDPLGILDADLDSFVPSDLITTIDKLAFYDLQEADLDKEFQLPTTTF
IGGSENTLSLREIIRRLENTYCQHIGLEFMFINDVEQCQWIRQKFETPGVMQFSSEEKRT
LLARLVRSMRFEDFLARKWSSEKRFGLEGCEVMIPALKTIIDKSSEMGIENVILGMPHRG
RLNVLANVIRKDLEQIFCQFDPKLEAADEGSGDVKYHLGMYHERINRVTNRNITLSLVAN
PSHLEAVDPVVQGKTKAEQFYRGDAQGKKVMSILVHGDAAFAGQGVVYETFHLSDLPSYT
TNGTVHVVVNNQIGFTTDPRMARSSPYPTDVARVVNAPIFHVNADDPEAVIYVCSVAAEW
RNTFNKDVVVDLVCYRRRGHNEMDEPMFTQPLMYKQIHRQVPVLKKYADKLIAEGTVTLQ
EFEEEIAKYDRICEEAYGRSKDKKILHIKHWLDSPWPGFFNVDGEPKSMTCPATGIPEDM
LTHIGSVASSVPLEDFKIHTGLSRILRGRADMTKNRTVDWALAEYMAFGSLLKEGIHVRL
SGQDVERGTFSHRHHVLHDQEVDRRTCVPMNHLWPDQAPYTVCNSSLSEYGVLGFELGYA
MASPNALVLWEAQFGDFHNTAQCIIDQFISTGQAKWVRHNGIVLLLPHGMEGMGPEHSSA
RPERFLQMSNDDSDAYPAFTKDFEVSQLYDCNWIVVNCSTPANYFHVLRRQILLPFRKPL
IIFTPKSLLRHPEAKSSFDQMVSGTSFQRVIPEDGAAARAPEQVQRLIFCTGKVYYDLVK
ERSSQDLEEKVAITRLEQISPFPFDLIKQEAEKYPGAELAWCQEEHKNMGYYDYISPRFM
TILRRARPIWYVGRDPAAAPATGNRNTHLVSLKKFLDTAFNLQAFEGKTF
Sequence length 1010
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
47
Gene SNPs Other IDs Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal brain morphology Likely pathogenic rs773888308 RCV000454186
Yoon-Bellen neurodevelopmental syndrome Pathogenic; Likely pathogenic rs1462948301, rs2133028735, rs924975413, rs1841583771, rs2538989014, rs773888308 RCV001812630
RCV001812631
RCV001812633
RCV003230796
RCV003989360
RCV001810942
Show/Hide Unknown Diseases (6)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Uncertain significance rs144796503 RCV005930732
Clear cell carcinoma of kidney Uncertain significance; Likely benign rs144796503, rs150231967 RCV005930733
RCV005893874
Depression Affects rs2293239 RCV001716992
Familial cancer of breast Likely benign rs150231967 RCV005893873
Show/Hide Text Mining Associations (17)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 31072331
Breast Neoplasms Associate 19228724, 24927296, 31837001
Carcinogenesis Inhibit 23152800
Carcinoma Hepatocellular Inhibit 31781311
Carcinoma Hepatocellular Associate 36000493
Carcinoma Renal Cell Associate 31886185
Carcinoma Renal Cell Inhibit 37626050
Colonic Neoplasms Associate 30967137
Colorectal Neoplasms Associate 31200767
Eosinophilic Esophagitis Associate 29669943