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Set Analyses:

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OGDH Gene

protein-coding GIFtS: 68
GCID: GC07P044646

Oxoglutarate (Alpha-Ketoglutarate) Dehydrogenase (Lipoamide)

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Oxoglutarate (Alpha-Ketoglutarate) Dehydrogenase (Lipoamide)¹ ²		E1k²
2-Oxoglutarate Dehydrogenase Complex Component E1² ³		OGDC²
OGDC-E1² ³		Oxoglutarate Decarboxylase²
EC 1.2.4.2³ ⁸		Oxoglutarate Dehydrogenase (Succinyl-Transferring)²
2-Oxoglutarate Dehydrogenase, Mitochondrial²		Alpha-Ketoglutarate Dehydrogenase³
AKGDH²

External Ids:	HGNC: 8124¹	Entrez Gene: 4967²	Ensembl: ENSG00000105953⁷	OMIM: 613022⁵	UniProtKB: Q02218³

Export aliases for OGDH gene to outside databases

Previous GC identifers: GC07P044292 GC07P044387 GC07P044419 GC07P044612

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for OGDH Gene:

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 matrix and uses thiamine pyrophosphate as a cofactor. A congenital deficiency in

2-oxoglutarate dehydrogenase activity is believed to lead to hypotonia, metabolic acidosis, and hyperlactatemia.

Alternative splicing results in multiple transcript variants encoding distinct isoforms.(provided by RefSeq, Sep

2009)

GeneCards Summary for OGDH Gene:

OGDH (oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)) is a protein-coding gene. Diseases associated with OGDH include alpha-ketoglutarate dehydrogenase deficiency, and deafness onychodystrophy osteodystrophy and mental retardation syndrome. GO annotations related to this gene include thiamine pyrophosphate binding and chaperone binding. An important paralog of this gene is DHTKD1.

UniProtKB/Swiss-Prot: ODO1_HUMAN, Q02218

Function: The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to

succinyl-CoA and CO(2). It contains multiple copies of three enzymatic components: 2-oxoglutarate dehydrogenase

(E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3)

Gene Wiki entry for OGDH Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000007.14 NT_007819.18 NC_018918.2

Regulatory elements:

Regulatory transcription factor binding sites in the OGDH gene promoter:
Max1 p53 Pax-6 Lmo2 E4BP4 SREBP-1b Egr-4 SREBP-1a ATF6 c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 9): OGDH promoter sequence

Search Chromatin IP Primers for OGDH

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat OGDH

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7p14-p13 Ensembl cytogenetic band: 7p13 HGNC cytogenetic band: 7p13-p11.2

OGDH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OGDH gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07P044646: view genomic region (about GC identifiers)

Start:	44,646,121 bp from pter	End:	44,748,669 bp from pter
Size:	102,549 bases	Orientation:	plus strand

1 alternative location:

Chr7+,CRA_TCAG 44,685,639-44,788,190

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ODO1_HUMAN, Q02218 (See protein sequence)

Recommended Name: 2-oxoglutarate dehydrogenase, mitochondrial precursor

Size: 1023 amino acids; 115935 Da

Cofactor: Thiamine pyrophosphate

Sequence caution: Sequence=BAA01393.1; Type=Frameshift; Positions=1003; Sequence=BAA06836.1; Type=Frameshift;

Positions=1003;

1 PDB 3D structure from and Proteopedia for OGDH:

3ERY (3D)

Secondary accessions: B4E2U9 D3DVL0 E9PBM1 Q96DD3 Q9UDX0

Alternative splicing: 3 isoforms: Q02218-1 Q02218-2 Q02218-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for OGDH: NX_Q02218

Explore proteomics data for OGDH at MOPED

Post-translational modifications:

Ubiquitination² at Lys74, Lys534

Modification sites at PhosphoSitePlus

Selected DME Specific Peptides for OGDH (Q02218) (see all 38)

RLSGQDV

GQAKWVR

DLVCYRR

KSLLRHP

See OGDH Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (3 alternative transcripts):

NP_001003941.1 NP_001158508.1 NP_002532.2

ENSEMBL proteins:

ENSP00000398576 ENSP00000388084 ENSP00000388183 ENSP00000392878 ENSP00000411830

ENSP00000414662 ENSP00000222673 ENSP00000443821

Reactome Protein details: Q02218

OGDH Human Recombinant Protein Products:

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	Novus Biologicals OGDH Lysate
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OGDH Antibody Products:

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	LSBio Antibodies in human, mouse, rat for OGDH

OGDH Assay Products:

	Browse Kits and Assays available from EMD Millipore
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	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for OGDH Cloud-Clone Corp. CLIAs for OGDH

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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3 InterPro protein domains:

IPR011603 2oxoglutarate_DH_E1

IPR005475 Transketolase-like_Pyr-bd

IPR001017 DH_E1

Graphical View of Domain Structure for InterPro Entry Q02218

ProtoNet protein and cluster: Q02218

1 Blocks protein domain: IPB005475 Transketolase

UniProtKB/Swiss-Prot: ODO1_HUMAN, Q02218

Similarity: Belongs to the alpha-ketoglutarate dehydrogenase family

OGDH for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: ODO1_HUMAN, Q02218

Function: The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to

succinyl-CoA and CO(2). It contains multiple copies of three enzymatic components: 2-oxoglutarate dehydrogenase

(E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3)

Catalytic activity: 2-oxoglutarate + [dihydrolipoyllysine-residue succinyltransferase] lipoyllysine =

[dihydrolipoyllysine-residue succinyltransferase] S-succinyldihydrolipoyllysine + CO(2)

Enzyme regulation: Catabolite repressed

Genatlas biochemistry entry for OGDH:

2-oxoglutarate lipoamide 2 oxidoreductase (decarboxylating and acceptor-succinylating,component E1 of the

2-oxoglutarate complex,mitochondrial matrix

Enzyme Number (IUBMB): EC 1.2.4.2¹ ²

Gene Ontology (GO): Selected molecular function terms (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004591	oxoglutarate dehydrogenase (succinyl-transferring) activity	ISS	--
GO:0016624	oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor	--	--
GO:0030976	thiamine pyrophosphate binding	IEA	--
GO:0031072	heat shock protein binding	IEA	--
GO:0034602	oxoglutarate dehydrogenase (NAD+) activity	IEA	--

OGDH for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for OGDH:

Increased number of cells in m

Animal Models:

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for OGDH

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for OGDH

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for OGDH

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for OGDH

miRNA Products:		miRTarBase miRNAs that target OGDH: hsa-mir-16-5p (MIRT031751), hsa-mir-335-5p (MIRT018112), hsa-mir-361-5p (MIRT044084), hsa-mir-30a-5p (MIRT028586)

		Block miRNA regulation of human, mouse, rat OGDH using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate OGDH (see all 14):
		hsa-miR-26a-2* hsa-miR-1271 hsa-miR-3120-3p hsa-miR-545 hsa-miR-106a* hsa-miR-551b* hsa-miR-339-5p hsa-miR-1262

		SwitchGear 3'UTR luciferase reporter plasmid: OGDH 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for OGDH
		Predesigned siRNA for gene silencing in human, mouse, rat OGDH

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for OGDH

Clone Products:		OriGene clones in human, mouse for OGDH (see all 19) OriGene ORF clones in mouse, rat for OGDH OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): OGDH (NM_002541)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for OGDH
		Browse ESI BIO Cell Lines and PureStem Progenitors for OGDH

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OGDH

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

ODO1_HUMAN, Q02218: Mitochondrion matrix

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
mitochondrion	5
cytosol	2
nucleus	1
plasma membrane	1

About this image

Gene Ontology (GO): 4 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	IDA	--
GO:0005759	mitochondrial matrix	TAS	--
GO:0031966	mitochondrial membrane	ISS	--
GO:0045252	oxoglutarate dehydrogenase complex	IEA	--

OGDH for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for OGDH About (see all 8)

See pathways by source

SuperPath

Contained pathways About

Citric acid cycle (TCA cycle)

Citric acid cycle (TCA cycle)	0.55	conversion of glucose to acetyl CoA and entry into the TCA cycle	0.43
Citrate cycle (TCA cycle)	0.55	TCA Cycle	0.00
Pyruvate metabolism and Citric Acid (TCA) cycle	0.49	TCA cycle	0.00

Metabolism of amino acids and derivatives

	Lysine catabolism	0.00			2-oxoglutarate decarboxylation to succinyl-CoA	0.00
	Metabolism of amino acids and derivatives

Tryptophan metabolism

Tryptophan metabolism

0.46

Tryptophan metabolism

0.46

Metabolism

Metabolism

0.38

Metabolic pathways

0.38

Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.

The citric acid (TCA) cycle and respiratory electron transport

0.71

Pathways by source See SuperPaths
Show all pathways

5 BioSystems Pathways for OGDH

	TCA Cycle
	TCA cycle
	Tryptophan metabolism
	2-oxoglutarate decarboxylation to succinyl-CoA
	conversion of glucose to acetyl CoA and entry into the TCA cycle

2 Reactome Pathways for OGDH

	Lysine catabolism
	Citric acid cycle (TCA cycle)

1 PharmGKB Pathway for OGDH

Valproic Acid Pathway, Pharmacodynamics

5 Kegg Pathways (Kegg details for OGDH):

	Citrate cycle (TCA cycle)
	Lysine degradation
	Tryptophan metabolism
	Metabolic pathways
	Carbon metabolism

OGDH for pathways About GeneDecksing

Pathway & Disease-focused RT² Profiler PCR Arrays including OGDH:

Amino Acid Metabolism II in human mouse rat

Molecular Toxicology PathwayFinder 384HT in human mouse rat

Glucose Metabolism in human mouse rat

Interactions:

Search GeneGlobe Interaction Network for OGDH

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for OGDH (Q02218³ ENSP00000222673⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 163)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ENSG00000096150	P62269³	I2D: score=2
ENSG00000223367	P62269³	I2D: score=2
ENSG00000226225	P62269³	I2D: score=2
ENSG00000235650	P62269³	I2D: score=2
RPS18	P62269³	I2D: score=2

About this table

Gene Ontology (GO): Selected biological process terms (see all 19): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006091	generation of precursor metabolites and energy	ISS	--
GO:0006096	glycolytic process	IEA	--
GO:0006099	tricarboxylic acid cycle	TAS	--
GO:0006103	2-oxoglutarate metabolic process	IEA	--
GO:0006104	succinyl-CoA metabolic process	IEA	--

OGDH for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for OGDH (ODO1)

Selected HMDB Compounds for OGDH (see all 16) About this table

Compound	Synonyms	CAS #	PubMed Ids
(S)-Succinyldihydrolipoamide	S-Succinyldihydrolipoamide (see all 2)	--	--
2-(a-Hydroxyethyl)thiamine diphosphate	2-Hydroxyethyl-ThPP (see all 6)	10055-47-7	--
2-Ketobutyric acid	2-Ketobutanoate (see all 35)	600-18-0	--
3-carboxy-1-hydroxypropylthiamine diphosphate	3-Carboxy-1-hydroxypropyl-ThPP (see all 3)	--	--
Carbon dioxide	Carbon oxide (see all 5)	124-38-9	--
Coenzyme A	Acetoacetyl coenzyme A sodium salt (see all 21)	85-61-0	--
Glutaryl-CoA	glutaryl-CoA (see all 2)	103192-48-9	--
Lipoamide	Lipozyme (see all 25)	940-69-2	--
NAD	3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)	53-84-9	--
NADH	1,4-Dihydronicotinamide adenine dinucleotide (see all 17)	58-68-4	--

2 DrugBank Compounds for OGDH About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
NADH	beta-DPNH (see all 18)	606-68-8	target	--	17668068
Valproic Acid	2-Propylpentanoic Acid (see all 8)	99-66-1	target	inhibitor	12847559

Selected Novoseek inferred chemical compound relationships for OGDH gene (see all 55) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
alpha-ketoglutarate	97.3	313	1912072 (5), 18783430 (4), 11124972 (4), 18081316 (4) (see all 99)
lspfpfdl	86.3	1	11207252 (1)
dihydrolipoamide	85.1	15	1505515 (2), 12464489 (1), 20106611 (1), 8619544 (1) (see all 12)
pyruvate	84.9	82	2188870 (3), 1722146 (2), 8835931 (2), 16338405 (2) (see all 66)
2-oxo acid	83.2	8	9089910 (1), 10385636 (1), 7548757 (1), 8617422 (1) (see all 5)
lipoamide	78	10	1722146 (2), 1542694 (2), 12590611 (1), 16045627 (1) (see all 5)
alpha-ketoadipate	77.7	2	8495733 (2)
alpha lipoic acid	76.8	10	18081316 (2), 1912072 (1), 18655815 (1), 2104971 (1) (see all 9)
thiamine pyrophosphate	74.6	9	8835931 (2), 19043979 (2), 8279670 (1), 9521628 (1)
isocitrate	69.9	10	9746330 (1), 17668068 (1), 20109171 (1), 20394787 (1) (see all 9)

OGDH for compounds About GeneDecksing

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for OGDH gene (3 alternative transcripts):

NM_001003941.2 NM_001165036.1 NM_002541.3

Unigene Cluster for OGDH:

Oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)

Hs.488181 [show with all ESTs]

Unigene Representative Sequence: NM_002541

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000439616 ENST00000443864(uc003tlm.3) ENST00000447398 ENST00000449767

ENST00000419661 ENST00000444676(uc003tlo.1) ENST00000222673(uc011kbx.2 uc003tln.3 uc011kby.2 uc003tlp.3 uc011kbz.2)

ENST00000459672 ENST00000497326 ENST00000543843

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		Selected qRT-PCR Assays for microRNAs that regulate OGDH (see all 14):
		hsa-miR-26a-2* hsa-miR-1271 hsa-miR-3120-3p hsa-miR-545 hsa-miR-106a* hsa-miR-551b* hsa-miR-339-5p hsa-miR-1262

		SwitchGear 3'UTR luciferase reporter plasmid: OGDH 3' UTR sequence

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		GenScript: all cDNA clones in your preferred vector (see all 3): OGDH (NM_002541)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for OGDH
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OGDH

Primer Products:		OriGene qPCR primer pairs and template standards for OGDH OriGene qSTAR qPCR primer pairs in human, mouse for OGDH
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat OGDH
		QuantiTect SYBR Green Assays in human, mouse, rat OGDH
		QuantiFast Probe-based Assays in human, mouse, rat OGDH

Additional mRNA sequence:

AK293871.1 AK296400.1 AK304439.1 AK304690.1 AK314179.1 BC004964.1 BC009580.1 BC014617.2

BC128549.1 BC128550.1 D10523.1 DQ925673.1 DQ925674.1

Selected DOTS entries (see all 38):

DT.118120 DT.100791852 DT.97857885 DT.100735380 DT.75200206 DT.121112033 DT.100791854 DT.95155237

DT.100791846 DT.100039132 DT.121112040 DT.40206351 DT.100791848 DT.121112036 DT.40242179 DT.92452428

DT.100791843 DT.121112031 DT.121112047 DT.121112054 DT.97862311 DT.102833542 DT.121112002 DT.121112026

Selected AceView cDNA sequences (see all 500):

BQ645834 T16514 CD673037 BM809865 BQ064625 AW630996 BP363432 BQ224918

BU527298 BU501773 CA488892 CA454167 BQ691063 BU526945 BQ954636 CR617767

BU553182 AU133291 BU506784 BQ925256 BQ646951 CR610956 AL542001 CK724952

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for OGDH (see all 17) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	·	1f	^	2a	·	2b	·	2c	^	3	^	4a	·	4b	·	4c	·	4d	^	5a	·	5b	·	5c	·	5d	·	5e	^	6	^	7	^	8	^	9a	·	9b	·	9c	^	10a	·
SP1:																																							-				-
SP2:											-		-		-		-										-												-				-
SP3:											-		-		-		-		-								-												-				-
SP4:													-		-		-		-								-												-				-
SP5:

ExUns:	10b	·	10c	·	10d	^	11a	·	11b	·	11c	·	11d	^	12	^	13a	·	13b	·	13c	^	14	^	15	^	16a	·	16b	^	17	^	18a	·	18b	·	18c	^	19	^	20a	·	20b	^	21	^	22	^	23	^	24	^
SP1:													-								-						-
SP2:
SP3:
SP4:
SP5:													-

ExUns:	25	^	26	^	27
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for OGDH

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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OGDH expression in normal human tissues (normalized intensities) OGDH embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GCCAAGGGGC

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OGDH expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 15) fully expand


Brain (Nervous System) fully expand to see all 10 entries
Thalamus

Neural Tube (Nervous System) fully expand to see all 3 entries
Telencephalon

Ovary (Reproductive System) fully expand to see all 2 entries
Ovarian Mesenchymal Stroma Cells Ovary Interstitium
Oviduct

Kidney (Urinary System)
Metanephros

Adipose (Muscoskeletal System)
Thoracic Perivascular Adipose

OGDH Protein expression data from MOPED¹, PaxDb² and MaxQB³:

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OGDH Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.488181

Pathway & Disease-focused RT² Profiler PCR Arrays including OGDH:

Amino Acid Metabolism II in human mouse rat

Molecular Toxicology PathwayFinder 384HT in human mouse rat

Glucose Metabolism in human mouse rat

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for OGDH gene from Selected species (see all 26) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ogdh^{1 , 5}	oxoglutarate dehydrogenase (lipoamide)⁵ oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)¹	89.21(n)¹ 95.89(a)¹		11 (3.94 cM)⁵ 18293¹ NM_001252282.1¹ NP_001239211.1¹ 6291633⁵
chicken (Gallus gallus)	Aves	OGDH¹	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	82.78(n) 91.83(a)		426429 NM_001031382.1 NP_001026553.1
lizard (Anolis carolinensis)	Reptilia	OGDH⁶	oxoglutarate (alpha-ketoglutarate) dehydrogenase (...	91(a)	1 ↔ 1	GL343238.1(794348-833525)
African clawed frog (Xenopus laevis)	Amphibia	MGC68800²	hypothetical protein MGC68800	78.11(n)		BC061938.1
zebrafish (Danio rerio)	Actinopterygii	BC059621.1²	--	72.99(n)		393752 BC059621.1
fruit fly (Drosophila melanogaster)	Insecta	CG11661³ Nc73EF¹	oxoglutarate dehydrogenase (lipoamide)³ Neural conserved at 73EF¹	61(a) (best of 3)³ 62.41(n)¹ 62.98(a)¹		73E1³ 39899¹ NM_176342.4¹ NP_788520.2¹
worm (Caenorhabditis elegans)	Secernentea	T22B11.5³ ogdh-1¹	2-oxoglutarate dehydrogenase³ ogdh-1¹	57(a)³ 57.97(n)¹ 59.03(a)¹		IV(4697518-4704180)³ 177235¹ NM_068216.4¹ NP_500617.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	KGD1(YIL125W)⁴ KGD1¹	Component of the mitochondrial alpha-ketoglutarate more⁴ KGD1¹	51.38(n)¹ 47.91(a)¹		9(122689-125733)⁴ 854681^{1, 4} NP_012141.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	AT3G55410¹	AT3G55410	54.56(n) 52.03(a)		824707 NM_115399.2 NP_191101.2
rice (Oryza sativa)	Liliopsida	Os.11872²	Oryza sativa (japonica cultivar-group) cDNA cloneJ more	73.01(n)		AK067777.1

ENSEMBL Gene Tree for OGDH (if available)
TreeFam Gene Tree for OGDH (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for OGDH gene

DHTKD1² OGDHL²

2 SIMAP similar genes for OGDH using alignment to 10 protein entries: ODO1_HUMAN (see all proteins):

OGDHL DHTKD1

OGDH for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs10239322^1,2	C,H	--	44619596(+)	`acatgG/Ctgaaa`	3	--	us2k¹		1		NA	2
rs376540610^1,2	C	--	44619609(+)	`CCATCA/GTACTA`	3	--	us2k¹		0	--	--	--	--
rs150920164^1,2		--	44619636(+)	`CTGGGC/TGTAGT`	3	--	us2k¹		0	--	--	--	--
rs140743786^1,2		--	44619882(+)	`CACTTA/GAACCT`	3	--	us2k¹		0	--	--	--	--
rs115042269^1,2	C,F	--	44620039(+)	`GAAATA/CAGGTG`	3	--	us2k¹		1		WA	118
rs114835344^1,2	C,F	--	44620114(+)	`GAGACC/TGTATA`	3	--	us2k¹		1		WA	118
rs150112734^1,2	C	--	44620188(+)	`GGTTAC/TAGAGT`	3	--	us2k¹		0	--	--	--	--
rs180746168^1,2		--	44620240(+)	`GACGGC/TTGCAT`	3	--	us2k¹		0	--	--	--	--
rs147805302^1,2		--	44620405(+)	`AGATCC/TTCCTG`	3	--	us2k¹		0	--	--	--	--
rs142521222^1,2		--	44620434(+)	`CTGAGA/CCTACA`	3	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for OGDH (44646121 - 44748669 bp)

Structural Variations
Database of Genomic Variants (DGV) 3 variations for OGDH: About this table

Variant ID	Type	Subtype	PubMed ID
nsv820209	CNV	Loss	19587683
esv259884	OTHER	Complex	20981092
esv259584	OTHER	Complex	20981092

Site Specific Mutation Identification with PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 613022
OMIM disorders: 203740
Selected diseases for OGDH (see all 39):    About MalaCards

alpha-ketoglutarate dehydrogenase deficiency deafness onychodystrophy osteodystrophy and mental retardation syndrome wernicke encephalopathy wernicke-korsakoff syndrome

metabolic acidosis hypotonia primary biliary cirrhosis fanconi syndrome

maple syrup urine disease refsum disease lactic acidosis friedreich ataxia

rett syndrome respiratory failure congestive heart failure spinocerebellar ataxia

scleroderma parkinson's disease ataxia tuberculosis

4 diseases from the University of Copenhagen DISEASES database for OGDH:

Wernicke encephalopathy Primary biliary cirrhosis Wernicke-Korsakoff syndrome Lactic acidosis

OGDH for disorders About GeneDecksing

Congresses - knowledge worth sharing:
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

Selected Novoseek inferred disease relationships for OGDH gene (see all 16) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
door syndrome	74.1	1	17343268 (1)
biliary cirrhosis primary	71.8	12	2188870 (2), 9089910 (1), 1380527 (1), 10385636 (1) (see all 11)
thiamine deficiency	70.2	3	8683340 (1), 19067139 (1)
korsakoff syndrome	53.9	1	8279670 (1)
alzheimers disease	36.2	3	8619544 (1), 2087217 (1), 15663478 (1)
neurodegenerative diseases	35.5	3	19087395 (1), 15840571 (1), 15663478 (1)
neurodegeneration	34	2	18783430 (1)
parkinson disease	24.6	3	8986127 (1), 19087395 (1), 12963742 (1)
autoimmune response	14.1	3	8527402 (1)
mimicry	12.6	1	7548757 (1)

Genatlas disease: OGDH

congenital lactic acidosis with hypotonia and progressive neurologic deterioration leading to early death

Genetic Association Database (GAD): OGDH
Human Genome Epidemiology (HuGE) Navigator: OGDH (1 document)

Export disorders for OGDH gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for OGDH gene, integrated from 10 sources (see all 225):
(articles sorted by number of sources associating them with OGDH)

Utopia: connect your pdf to the dynamic
world of online information

Cloning and nucleotide sequence of the cDNA encoding human 2- oxoglutarate dehydrogenase (lipoamide). (PubMed id 1542694)^{1, 2, 3, 9} Koike K.... Goto S. (Proc. Natl. Acad. Sci. U.S.A. 1992)
Localization of the gene (OGDH) coding for the E1k component of the alpha-ketoglutarate dehydrogenase complex to chromosome 7p13-p11.2. (PubMed id 8020988)^{1, 3, 9} Szabo P....Blass J.P. (Genomics 1994)
The gene encoding human 2-oxoglutarate dehydrogenase: structural organization and mapping to chromosome 7p13-p14. (PubMed id 7622061)^{1, 2, 9} Koike K. (Gene 1995)
Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)^{1, 4} Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry. (PubMed id 17370265)^{1, 2} Denis N.J.... Figeys D. (Proteomics 2007)
Reduction in the E2k subunit of the alpha-ketoglutarate dehydrogenase complex has effects independent of complex activity. (PubMed id 15649899)^{1, 9} Shi Q....Gibson G.E. (J. Biol. Chem. 2005)
The tricarboxylic acid cycle, an ancient metabolic network with a novel twist. (PubMed id 17668068)^{7, 9} Mailloux R.J....Appanna V.D. (PLoS ONE 2007)
Exclusion of OGDH and BMP4 as candidate genes in two siblings with autosomal recessive DOOR syndrome. (PubMed id 17343268)^{1, 9} van Bever Y....Courtens W. (Am. J. Med. Genet. A 2007)
Regulation of 2-oxoglutarate (alpha-ketoglutarate) dehydrogenase stability by the RING finger ubiquitin ligase Siah. (PubMed id 15466852)^{1, 9} Habelhah H....Ronai Z. (J. Biol. Chem. 2004)
The negative impact of I+-ketoglutarate dehydrogenase complex deficiency on matrix substrate-level phosphorylation. (PubMed id 23475850)¹ Kiss G....Chinopoulos C. (FASEB J. 2013)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 4967	HGNC: 8124	AceView: OGDH	Ensembl:ENSG00000105953	euGenes: HUgn4967
ECgene: OGDH	Kegg: 4967	H-InvDB: OGDH

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for OGDH	Pharmacogenomics, SNPs, Pathways
Wikipedia	http://en.wikipedia.org/wiki/Alpha-ketoglutarate_dehydrogenase

Intellectual Property for OGDH gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for OGDH gene:
Search GeneIP for patents involving OGDH

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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OGDH Gene

Oxoglutarate (Alpha-Ketoglutarate) Dehydrogenase (Lipoamide)

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OGDH Gene

Oxoglutarate (Alpha-Ketoglutarate) Dehydrogenase (Lipoamide)

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