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Aliases for OGDH Gene

Aliases for OGDH Gene

  • Oxoglutarate Dehydrogenase 2 3
  • Oxoglutarate (Alpha-Ketoglutarate) Dehydrogenase (Lipoamide) 2 3 5
  • 2-Oxoglutarate Dehydrogenase Complex Component E1 3 4
  • EC 1.2.4.2 4 63
  • OGDC-E1 3 4
  • Oxoglutarate Dehydrogenase (Succinyl-Transferring) 3
  • Alpha-Ketoglutarate Dehydrogenase 4
  • Testicular Tissue Protein Li 131 3
  • Oxoglutarate Decarboxylase 3
  • AKGDH 3
  • OGDC 3
  • E1k 3

External Ids for OGDH Gene

Previous GeneCards Identifiers for OGDH Gene

  • GC07P044292
  • GC07P044387
  • GC07P044419
  • GC07P044612

Summaries for OGDH Gene

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 Dehydrogenase) is a Protein Coding gene. Diseases associated with OGDH include alpha-ketoglutarate dehydrogenase deficiency and wernicke-korsakoff syndrome. Among its related pathways are Metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. GO annotations related to this gene include chaperone binding and oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor. An important paralog of this gene is DHTKD1.

UniProtKB/Swiss-Prot for OGDH Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OGDH Gene

Genomics for OGDH Gene

Regulatory Elements for OGDH Gene

Promoters for OGDH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around OGDH on UCSC Golden Path with GeneCards custom track

Genomic Location for OGDH Gene

Chromosome:
7
Start:
44,606,522 bp from pter
End:
44,709,070 bp from pter
Size:
102,549 bases
Orientation:
Plus strand

Genomic View for OGDH Gene

Genes around OGDH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OGDH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OGDH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OGDH Gene

Proteins for OGDH Gene

  • Protein details for OGDH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02218-ODO1_HUMAN
    Recommended name:
    2-oxoglutarate dehydrogenase, mitochondrial
    Protein Accession:
    Q02218
    Secondary Accessions:
    • B4E2U9
    • D3DVL0
    • E9PBM1
    • Q96DD3
    • Q9UDX0

    Protein attributes for OGDH Gene

    Size:
    1023 amino acids
    Molecular mass:
    115935 Da
    Cofactor:
    Name=thiamine diphosphate; Xref=ChEBI:CHEBI:58937;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA01393.1; Type=Frameshift; Positions=1003; Evidence={ECO:0000305}; Sequence=BAA06836.1; Type=Frameshift; Positions=1003; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for OGDH Gene

    Alternative splice isoforms for OGDH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OGDH Gene

Proteomics data for OGDH Gene at MOPED

Post-translational modifications for OGDH Gene

  • Ubiquitination at Lys 74 and Lys 534
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for OGDH (OGDH)

Domains & Families for OGDH Gene

Graphical View of Domain Structure for InterPro Entry

Q02218

UniProtKB/Swiss-Prot:

ODO1_HUMAN :
  • Belongs to the alpha-ketoglutarate dehydrogenase family.
Family:
  • Belongs to the alpha-ketoglutarate dehydrogenase family.
genes like me logo Genes that share domains with OGDH: view

No data available for Gene Families for OGDH Gene

Function for OGDH Gene

Molecular function for OGDH Gene

GENATLAS Biochemistry:
2-oxoglutarate lipoamide 2 oxidoreductase (decarboxylating and acceptor-succinylating,component E1 of the 2-oxoglutarate complex,mitochondrial matrix
UniProtKB/Swiss-Prot CatalyticActivity:
2-oxoglutarate + [dihydrolipoyllysine-residue succinyltransferase] lipoyllysine = [dihydrolipoyllysine-residue succinyltransferase] S-succinyldihydrolipoyllysine + CO(2).
UniProtKB/Swiss-Prot EnzymeRegulation:
Calcium ions and ADP stimulate, whereas ATP and NADH reduce catalytic activity.
UniProtKB/Swiss-Prot 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).

Enzyme Numbers (IUBMB) for OGDH Gene

Gene Ontology (GO) - Molecular Function for OGDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016624 oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor IEA --
GO:0030976 thiamine pyrophosphate binding IEA --
genes like me logo Genes that share ontologies with OGDH: view
genes like me logo Genes that share phenotypes with OGDH: view

Human Phenotype Ontology for OGDH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for OGDH Gene

MGI Knock Outs for OGDH:
  • Ogdh tm1e(KOMP)Wtsi

Animal Model Products

No data available for Transcription Factor Targets and HOMER Transcription for OGDH Gene

Localization for OGDH Gene

Subcellular locations from UniProtKB/Swiss-Prot for OGDH Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for OGDH Gene COMPARTMENTS Subcellular localization image for OGDH gene
Compartment Confidence
mitochondrion 5
chloroplast 2
cytosol 2
nucleus 2
peroxisome 2
extracellular 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for OGDH Gene

Pathways & Interactions for OGDH Gene

genes like me logo Genes that share pathways with OGDH: view

Gene Ontology (GO) - Biological Process for OGDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006091 generation of precursor metabolites and energy ISS --
GO:0006096 glycolytic process IEA --
GO:0006734 NADH metabolic process IEA --
GO:0008152 metabolic process IEA --
GO:0021695 cerebellar cortex development IEA --
genes like me logo Genes that share ontologies with OGDH: view

No data available for SIGNOR curated interactions for OGDH Gene

Drugs & Compounds for OGDH Gene

(22) Drugs for OGDH Gene - From: Novoseek, DrugBank, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Valproic Acid Approved, Investigational Pharma Target, inhibitor HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 311
thiamin diphosphate Experimental Pharma 0
2-Ketobutyric acid Experimental Pharma 0
Succinyl-CoA Experimental Pharma 0
NADH Nutra Target 0

(48) Additional Compounds for OGDH Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Lipoamide
  • 1,2-Dithiolane-3-pentanamide
  • 5-(1,2-Dithiolan-3-yl)-pentanamide
  • 5-(1,2-Dithiolan-3-yl)pentanamide
  • 5-(1,2-Dithiolan-3-yl)valeramide
  • 5-(Dithiolan-3-yl)valeramide
940-69-2
(S)-Succinyldihydrolipoamide
  • S-Succinyl-dihydrolipoamide
  • S-Succinyldihydrolipoamide
2-(a-Hydroxyethyl)thiamine diphosphate
  • 2-(alpha-Hydroxyethyl)thiamine diphosphate
  • 2-Hydroxyethyl-ThPP
  • 3-[(4-Amino-2-methyl-5-pyrimidinyl)methyl]-2-(1-hydroxyethyl)-4-methyl-5-(4,6,6-trihydroxy-3,5-dioxa-4,6-diphosphahex-1-yl)- P,P'-dioxide
  • 3-[(4-Amino-2-methyl-5-pyrimidinyl)methyl]-2-(1-hydroxyethyl)-5-(2-hydroxyethyl)-4-methyl- 5-(trihydrogen pyrophosphate) (8CI)
  • Thiazolium
10055-47-7
3-Carboxy-1-hydroxypropylthiamine diphosphate
  • 2-(3-Carboxy-1-hydroxypropyl)thiamine diphosphate
  • 3-Carboxy-1-hydroxypropyl-ThPP
  • 3-[(4-Amino-2-methylpyrimidin-5-yl)methyl]-2-(3-carboxy-1-hydroxypropyl)-5-(2-diphosphoethyl)-4-methyl-1,3-thiazol-3-ium
carbon dioxide
  • Carbon oxide
  • Carbon-12 dioxide
  • Carbonic acid anhydride
  • Carbonic acid gas
  • Carbonic anhydride
124-38-9
genes like me logo Genes that share compounds with OGDH: view

Transcripts for OGDH Gene

Unigene Clusters for OGDH Gene

Oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for OGDH Gene

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:
SP6: - - - - - - - - - - - - - - -
SP7: - - - - - - - - - - - - - - - - - - - -
SP8: - - - - - - - - - - - - - - -
SP9: - - - - -
SP10: - - - - - - - - - - - - - - - - - - -
SP11: - - -
SP12: -
SP13:
SP14:
SP15: - - -
SP16: -
SP17:

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: -
SP6:
SP7: - - - - - - - - - - - - - - - - -
SP8: - - -
SP9:
SP10: - - - - - - - - - -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

ExUns: 25 ^ 26 ^ 27
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for OGDH Gene

GeneLoc Exon Structure for
OGDH
ECgene alternative splicing isoforms for
OGDH

Expression for OGDH Gene

mRNA expression in normal human tissues for OGDH Gene

mRNA differential expression in normal tissues according to GTEx for OGDH Gene

This gene is overexpressed in Heart - Left Ventricle (x6.9) and Muscle - Skeletal (x5.6).

Protein differential expression in normal tissues from HIPED for OGDH Gene

This gene is overexpressed in Heart (14.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for OGDH Gene



SOURCE GeneReport for Unigene cluster for OGDH Gene Hs.488181

genes like me logo Genes that share expression patterns with OGDH: view

Protein tissue co-expression partners for OGDH Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for OGDH Gene

Orthologs for OGDH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for OGDH Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia OGDH 35
  • 90.16 (n)
  • 98.24 (a)
OGDH 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia OGDH 35
  • 89.46 (n)
  • 98.58 (a)
-- 36
  • 97 (a)
OneToMany
-- 36
  • 92 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ogdh 35
  • 89.21 (n)
  • 95.89 (a)
Ogdh 16
Ogdh 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia OGDH 35
  • 99.64 (n)
  • 100 (a)
OGDH 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ogdh 35
  • 89.44 (n)
  • 96.29 (a)
oppossum
(Monodelphis domestica)
Mammalia OGDH 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OGDH 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves OGDH 35
  • 82.78 (n)
  • 91.83 (a)
OGDH 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OGDH 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ogdh 35
  • 78.39 (n)
  • 89.49 (a)
Str.8708 35
African clawed frog
(Xenopus laevis)
Amphibia MGC68800 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
ogdha 35
  • 77.1 (n)
  • 86.85 (a)
ogdha 36
  • 87 (a)
OneToMany
ogdhb 36
  • 84 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12508 35
fruit fly
(Drosophila melanogaster)
Insecta CG11661 37
  • 61 (a)
CG18170 37
  • 51 (a)
CG32316-ORFB 37
  • 53 (a)
Nc73EF 35
  • 62.41 (n)
  • 62.98 (a)
CG33791 36
  • 42 (a)
ManyToMany
Nc73EF 36
  • 56 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006366 35
  • 64.78 (n)
  • 65.57 (a)
worm
(Caenorhabditis elegans)
Secernentea T22B11.5 37
  • 57 (a)
ogdh-1 35
  • 57.97 (n)
  • 59.03 (a)
ogdh-1 36
  • 56 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER374C 35
  • 53.96 (n)
  • 48.21 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F04477g 35
  • 50.83 (n)
  • 47.93 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KGD1 35
  • 51.38 (n)
  • 47.91 (a)
KGD1 36
  • 45 (a)
OneToMany
KGD1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G55410 35
  • 54.56 (n)
  • 52.03 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.10739 35
rice
(Oryza sativa)
Liliopsida Os.11872 35
Os07g0695800 35
  • 57.81 (n)
  • 52.22 (a)
corn
(Zea mays)
Liliopsida Zm.6807 35
bread mold
(Neurospora crassa)
Ascomycetes NCU05425 35
  • 55.61 (n)
  • 47.38 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC3H7.03c 35
  • 52.36 (n)
  • 47.74 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7934 36
  • 64 (a)
OneToMany
Species with no ortholog for OGDH:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for OGDH Gene

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

Paralogs for OGDH Gene

Paralogs for OGDH Gene

genes like me logo Genes that share paralogs with OGDH: view

Variants for OGDH Gene

Sequence variations from dbSNP and Humsavar for OGDH Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs2070607 - 44,707,979(+) TGGAC(A/G)TCTTC reference, missense
rs12868 -- 44,708,731(+) CCACC(A/G)CCGGG utr-variant-3-prime
rs14239 -- 44,708,304(+) CACAA(C/T)CCTCC utr-variant-3-prime
rs718336 -- 44,659,373(+) ACTAT(A/C)TTTGC intron-variant
rs754259 -- 44,674,245(-) CAACA(C/T)GGTGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for OGDH Gene

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

Variation tolerance for OGDH Gene

Residual Variation Intolerance Score: 3.55% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.92; 59.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for OGDH Gene

HapMap Linkage Disequilibrium report
OGDH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OGDH Gene

Disorders for OGDH Gene

MalaCards: The human disease database

(8) MalaCards diseases for OGDH Gene - From: OMIM, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
alpha-ketoglutarate dehydrogenase deficiency
  • 2 alpha ketoglutarate dehydrogenase deficiency
wernicke-korsakoff syndrome
  • korsakoff syndrome
door syndrome
  • digitorenocerebral syndrome
lactic acidosis
  • acidosis lactic
primary biliary cirrhosis
  • biliary liver cirrhosis
- elite association - COSMIC cancer census association via MalaCards
Search OGDH in MalaCards View complete list of genes associated with diseases

Genatlas disease for OGDH Gene

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

Relevant External Links for OGDH

Genetic Association Database (GAD)
OGDH
Human Genome Epidemiology (HuGE) Navigator
OGDH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OGDH
genes like me logo Genes that share disorders with OGDH: view

No data available for UniProtKB/Swiss-Prot for OGDH Gene

Publications for OGDH Gene

  1. Cloning and nucleotide sequence of the cDNA encoding human 2- oxoglutarate dehydrogenase (lipoamide). (PMID: 1542694) Koike K. … Goto S. (Proc. Natl. Acad. Sci. U.S.A. 1992) 2 3 4 23 67
  2. Localization of the gene (OGDH) coding for the E1k component of the alpha-ketoglutarate dehydrogenase complex to chromosome 7p13-p11.2. (PMID: 8020988) Szabo P. … Blass J.P. (Genomics 1994) 2 3 23
  3. Exclusion of OGDH and BMP4 as candidate genes in two siblings with autosomal recessive DOOR syndrome. (PMID: 17343268) van Bever Y. … Courtens W. (Am. J. Med. Genet. A 2007) 3 23
  4. The tricarboxylic acid cycle, an ancient metabolic network with a novel twist. (PMID: 17668068) Mailloux R.J. … Appanna V.D. (PLoS ONE 2007) 23 25
  5. Reduction in the E2k subunit of the alpha-ketoglutarate dehydrogenase complex has effects independent of complex activity. (PMID: 15649899) Shi Q. … Gibson G.E. (J. Biol. Chem. 2005) 3 23

Products for OGDH Gene

Sources for OGDH Gene

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