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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

OGDH Gene

protein-coding   GIFtS: 67
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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Citric acid cycle (TCA cycle) and Tryptophan metabolism. GO annotations related to this gene include thiamine pyrophosphate binding and heat shock protein 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007819.17  NC_018918.2  NT_079592.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for OGDH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Mitochondrion matrix
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q02218

  • 4/38 DME Specific Peptides for OGDH (Q02218) (see all 38)
     RLSGQDV  GQAKWVR  DLVCYRR  KSLLRHP 

    OGDH Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    OGDH Protein Expression
    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
    Human Recombinant Protein Products for OGDH: 
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    Cloud-Clone Corp. Proteins for OGDH 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005759mitochondrial matrix TAS--
    GO:0031966mitochondrial membrane ISS--
    GO:0045252oxoglutarate dehydrogenase complex IEA--

    OGDH for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004591oxoglutarate dehydrogenase (succinyl-transferring) activity ISS--
    GO:0016624oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor ----
    GO:0030976thiamine pyrophosphate binding IEA--
    GO:0031072heat shock protein binding IEA--
    GO:0034602oxoglutarate dehydrogenase (NAD+) activity IEA--
         
    OGDH for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for OGDH:
     Increased number of cells in m 

    Animal Models:
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for OGDH 
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    8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate OGDH (see all 14):
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    SwitchGear 3'UTR luciferase reporter plasmidOGDH 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for OGDH About   (see all 11)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Citric acid cycle (TCA cycle)
    Citric acid cycle (TCA cycle)0.89
    TCA cycle0.84
    TCA Cycle0.89
    Citrate cycle (TCA cycle)0.58
    2Tryptophan metabolism
    Tryptophan metabolism0.46
    Tryptophan metabolism0.46
    3Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    4Lysine catabolism
    Lysine catabolism0.38
    2-oxoglutarate decarboxylation to succinyl-CoA0.38
    5Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport0.72

    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

    5/6        Reactome Pathways for OGDH (see all 6)
        Pyruvate metabolism and Citric Acid (TCA) cycle
    Lysine catabolism
    Metabolism
    Citric acid cycle (TCA cycle)
    The citric acid (TCA) cycle and respiratory electron transport

    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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for OGDH

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

    5/131 Interacting proteins for OGDH (Q022183 ENSP000002226734) via UniProtKB, MINT, STRING, and/or I2D (see all 131)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000096150P622693I2D: score=2 
    ENSG00000223367P622693I2D: score=2 
    ENSG00000226225P622693I2D: score=2 
    ENSG00000235650P622693I2D: score=2 
    RPS18P622693I2D: score=2 
    About this table

    Gene Ontology (GO): 5/19 biological process terms (GO ID links to tree view) (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006091generation of precursor metabolites and energy ISS--
    GO:0006096glycolysis IEA--
    GO:0006099tricarboxylic acid cycle TAS--
    GO:00061032-oxoglutarate metabolic process IEA--
    GO:0006104succinyl-CoA metabolic process IEA--

    OGDH for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    OGDH for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for OGDH (ODO1)

    10/16 HMDB Compounds for OGDH (see all 16)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (S)-SuccinyldihydrolipoamideS-Succinyldihydrolipoamide (see all 2)----
    2-(a-Hydroxyethyl)thiamine diphosphate2-Hydroxyethyl-ThPP (see all 6)10055-47-7--
    2-Ketobutyric acid2-Ketobutanoate (see all 35)600-18-0--
    3-carboxy-1-hydroxypropylthiamine diphosphate3-Carboxy-1-hydroxypropyl-ThPP (see all 3)----
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    Coenzyme AAcetoacetyl coenzyme A sodium salt (see all 21)85-61-0--
    Glutaryl-CoAglutaryl-CoA (see all 2)103192-48-9--
    LipoamideLipozyme (see all 25)940-69-2--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--

    2 DrugBank Compounds for OGDH    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17668068
    Valproic Acid2-Propylpentanoic Acid (see all 8)99-66-1targetinhibitor12847559

    10/55 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)

    Search CenterWatch for drugs/clinical trials and news about OGDH / ODO1

    (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,
    RNAi Products from EMD Millipore,
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    About This Section

    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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    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 

    24/38 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 

    24/500 AceView cDNA sequences (see all 500):

    BU506784 BM708337 CA393598 BE904469 BF530951 BQ948774 BQ919184 AI269438 
    BC009580 CR598912 AA310477 BQ646951 BU850137 BQ941210 BQ349984 CR617563 
    CR610956 BQ650908 BU902180 BM713604 BQ925256 BQ436417 AL542001 BM005784 

    GeneLoc Exon Structure

    5/17 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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
    OGDH Expression
    About this image


    OGDH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/28 selected tissues (see all 28) fully expand
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Thalamus
             ganglion/cranial   
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             heart/ventricle   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   

    See OGDH Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for OGDH

    SOURCE GeneReport for Unigene cluster: Hs.488181
        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for OGDH gene from 10/26 species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ogdh1 , 5 oxoglutarate dehydrogenase (lipoamide)1, 5 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) less 82.78(n)
    91.83(a)
      426429  NM_001031382.1  NP_001026553.1 
    lizard
    (Anolis carolinensis)
    Reptilia OGDH6
    Uncharacterized protein
    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
    62.44(n)1
    63.05(a)1
      73E13
    398991  NM_176342.31  NP_788520.21 
    worm
    (Caenorhabditis elegans)
    Secernentea T22B11.53
    ogdh-11
    2-oxoglutarate dehydrogenase3
    Protein OGDH-11
    57(a)3
    58.06(n)1
    59.21(a)1
      IV(4697518-4704180)3
    1772351  NM_068216.31  NP_500617.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes KGD1(YIL125W)4
    KGD11
    Component of the mitochondrial alpha-ketoglutarate dehydrogenase complex, which catalyzes a key step in the tricarboxylic acid (TCA) cycle, the oxidative decarboxylation of alpha-ketoglutarate to form succinyl-CoA less4
    Kgd1p1
    51.63(n)1
    48.48(a)1
      9(122689-125733)4
    8546811, 4  NP_012141.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G657501 2-oxoglutarate dehydrogenase, E1 component 55(n)
    52.76(a)
      836704  NM_125972.4  NP_201376.1 
    rice
    (Oryza sativa)
    Liliopsida Os.118722 Oryza sativa (japonica cultivar-group) cDNA cloneJ013002N21, full insert sequence less 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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2229 SNPs in OGDH are shown (see all 2229)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs102393221,2
    C,H--44619596(+) acatgG/Ctgaaa 3 -- us2k11Minor allele frequency- C:0.50NA 2
    rs3765406101,2
    C--44619609(+) CCATCA/GTACTA 3 -- us2k10--------
    rs1509201641,2
    --44619636(+) CTGGGC/TGTAGT 3 -- us2k10--------
    rs1407437861,2
    --44619882(+) CACTTA/GAACCT 3 -- us2k10--------
    rs1150422691,2
    C,F--44620039(+) GAAATA/CAGGTG 3 -- us2k11Minor allele frequency- C:0.06WA 118
    rs1148353441,2
    C,F--44620114(+) GAGACC/TGTATA 3 -- us2k11Minor allele frequency- T:0.02WA 118
    rs1501127341,2
    C--44620188(+) GGTTAC/TAGAGT 3 -- us2k10--------
    rs1807461681,2
    --44620240(+) GACGGC/TTGCAT 3 -- us2k10--------
    rs1478053021,2
    --44620405(+) AGATCC/TTCCTG 3 -- us2k10--------
    rs1425212221,2
    --44620434(+) CTGAGA/CCTACA 3 -- us2k10--------

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

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for OGDH:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv820209CNV Loss19587683
    esv259884OTHER Complex20981092
    esv259584OTHER Complex20981092

    SABiosciences Cancer Mutation 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.)
    About This Section
    OMIM gene information: 613022   
    OMIM disorders: 203740  
    20/36 diseases for OGDH (see all 36):    About MalaCards
    alpha-ketoglutarate dehydrogenase deficiency    deafness - onychodystrophy    metabolic acidosis    wernicke encephalopathy
    primary biliary cirrhosis    wernicke-korsakoff syndrome    hypotonia    fanconi syndrome
    maple syrup urine disease    refsum disease    lactic acidosis    friedreich ataxia
    rett syndrome    respiratory failure    congestive heart failure    spinocerebellar ataxia
    tuberculosis    parkinson's disease    scleroderma    ataxia

    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

    10/16 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)
    About This Section

    PubMed articles for OGDH gene, integrated from 9 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

    1. Cloning and nucleotide sequence of the cDNA encoding human 2- oxoglutarate dehydrogenase (lipoamide). (PubMed id 1542694)1, 2, 3, 9 Koike K.... Goto S. (1992)
    2. 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. (1994)
    3. The gene encoding human 2-oxoglutarate dehydrogenase: structural organization and mapping to chromosome 7p13-p14. (PubMed id 7622061)1, 2, 9 Koike K. (1995)
    4. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    5. 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. (2007)
    6. 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. (2005)
    7. The tricarboxylic acid cycle, an ancient metabolic network with a novel twist. (PubMed id 17668068)7, 9 Mailloux R.J....Appanna V.D. (2007)
    8. 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. (2007)
    9. Regulation of 2-oxoglutarate (alpha-ketoglutarate) dehydrogenase stability by the RING finger ubiquitin ligase Siah. (PubMed id 15466852)1, 9 Habelhah H....Ronai Z. (2004)
    10. The negative impact of a-ketoglutarate dehydrogenase c omplex deficiency on matrix substrate-level phosphorylation. (PubMed id 23475850)1 Kiss G....Chinopoulos C. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    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)
    About This Section
    Entrez Gene: 4967 HGNC: 8124 AceView: OGDH Ensembl:ENSG00000105953 euGenes: HUgn4967
    ECgene: OGDH Kegg: 4967 H-InvDB: OGDH

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for OGDH Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Alpha-ketoglutarate_dehydrogenase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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