OGDHL (oxoglutarate dehydrogenase L)

Gene

• 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 ID	Visualize variation	Clinical significance	Consequence
rs773888308	G>A,C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant

miRNA

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 assay, qRT-PCR, Western blotting	32489562
MIRT2058523	hsa-miR-3064-5p	CLIP-seq
MIRT2058524	hsa-miR-3162-3p	CLIP-seq
MIRT2058525	hsa-miR-4300	CLIP-seq
MIRT2058526	hsa-miR-4426	CLIP-seq
MIRT2058527	hsa-miR-451b	CLIP-seq
MIRT2058528	hsa-miR-4539	CLIP-seq
MIRT2058529	hsa-miR-4647	CLIP-seq
MIRT2058530	hsa-miR-4662b	CLIP-seq
MIRT2058531	hsa-miR-4680-5p	CLIP-seq
MIRT2058532	hsa-miR-4687-3p	CLIP-seq
MIRT2058533	hsa-miR-646	CLIP-seq
MIRT2058534	hsa-miR-920	CLIP-seq

Gene ontology (GO)

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
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IDA	23152800
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0006096	Process	Glycolytic process	IEA
GO:0006099	Process	Tricarboxylic acid cycle	IBA
GO:0006099	Process	Tricarboxylic acid cycle	ISS
GO:0006103	Process	2-oxoglutarate metabolic process	ISS
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016624	Function	Oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor	IEA
GO:0030976	Function	Thiamine pyrophosphate binding	IEA
GO:0045252	Component	Oxoglutarate dehydrogenase complex	IBA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 617513
• HGNC: 25590
• e!Ensembl: ENSG00000197444

Protein

• UniProt ID: 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

Associated diseases

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
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormal brain morphology	Likely pathogenic	rs773888308	RCV000454186	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Yoon-Bellen neurodevelopmental syndrome	Pathogenic; Likely pathogenic	rs1462948301, rs2133028735, rs924975413, rs1841583771, rs2538989014, rs773888308	RCV001812630 RCV001812631 RCV001812633 RCV003230796 RCV003989360 RCV001810942	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depression	Affects	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OGDHL-related disorder	Likely benign; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	31072331	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24927296, 31837001		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19228724, 24927296, 31837001	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23152800	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31781311	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36000493	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31886185	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37626050	Inhibit	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	30967137	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30904169		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31200767	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilic esophagitis	Eosinophilia	BEFREE	29669943		★☆☆☆☆ Found in Text Mining only
Eosinophilic Esophagitis	Eosinophilia	Pubtator	29669943	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24927296, 31837001		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31781311		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31175094		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23152800, 31175094		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	29669943	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31175094		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	31072331	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31175094		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	33405394	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	23152800	Associate	★☆☆☆☆ Found in Text Mining only