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Aliases for OGDH Gene

Aliases for OGDH Gene

  • Oxoglutarate Dehydrogenase 2 3 5
  • Oxoglutarate (Alpha-Ketoglutarate) Dehydrogenase (Lipoamide) 2 3
  • 2-Oxoglutarate Dehydrogenase Complex Component E1 3 4
  • EC 1.2.4.2 4 56
  • OGDC-E1 3 4
  • Oxoglutarate Dehydrogenase (Succinyl-Transferring) 3
  • 2-Oxoglutarate Dehydrogenase, Mitochondrial 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 Glyoxylate metabolism and glycine degradation and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (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 OGDHL.

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

Additional gene information for OGDH Gene

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

Genomics for OGDH Gene

GeneHancer (GH) Regulatory Elements for OGDH Gene

Promoters and enhancers for OGDH Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I044605 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.0 1009 4.3 HDGF PKNOX1 CLOCK SMAD1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 OGDH SPDYE1 ENSG00000228434 ENSG00000228596 SNHG15 TBRG4 DDX56 NUDCD3 GC07M044657
GH07I044628 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 22.2 +28.7 28682 13.6 HDGF PKNOX1 SMAD1 FEZF1 IRF4 YY1 POLR2B ZNF766 ZNF143 FOS DDX56 OGDH H2AFV SNORA5C PURB SNORA5B NACAD NUDCD3 TMED4 ENSG00000228434
GH07I044613 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 8.4 +13.9 13869 13 HDGF ATF1 FOXA2 FEZF1 DMAP1 IRF4 GTF3C2 ZNF121 FOS ATF7 PURB ZMIZ2 URGCP ENSG00000228596 MYO1G OGDH DDX56 NUDCD3 TMED4 GC07M044657
GH07I044975 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 3.4 +372.4 372400 6.5 PKNOX1 SMAD1 FEZF1 IRF4 POLR2B ZNF143 ATF7 RUNX3 JUNB REST MYO1G CCM2 ENSG00000260997 PURB RAMP3 SNHG15 OGDH ZMIZ2
GH07I044647 Enhancer 0.6 dbSUPER 12.8 +41.8 41775 2 GABPA ZFHX2 ZNF316 GABPB1 NR2C1 EMSY MAFK EGR2 NR2C2 OGDH ENSG00000228596 H2AFV LINC01952 PPIA GC07M044657
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around OGDH on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the OGDH gene promoter:

Genomic Locations for OGDH Gene

Genomic Locations for OGDH Gene
chr7:44,606,522-44,709,070
(GRCh38/hg38)
Size:
102,549 bases
Orientation:
Plus strand
chr7:44,646,121-44,748,669
(GRCh37/hg19)

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

Selected DME Specific Peptides for OGDH Gene

Q02218:
  • RLSGQDV
  • GQAKWVR
  • KSLLRHP
  • VVNNQIGFTTDPRMARSSPYPTDVARVVNAPIFHVN
  • GPEHSSAR
  • IHGGLSRILK
  • GKTKAEQFY
  • GMPHRGRLNVLANV
  • EPFLSGT
  • LPTTTFIGG
  • NEEKRTLLARLVRSTRFEEFL
  • HLAVQSLIRAYQIRGHHVAQLDPLGILDADLDS
  • EQLSPFP
  • LREIIRRLE
  • GTVHVVVNNQIGFTTDPRMARSSPYPTDVARVVNAPI
  • QLYDCNW
  • AYCQHIGVEFMFINDLEQCQWIRQKFE
  • SNYVEEMY
  • EGSGDVKYHLG
  • GYYDYVK
  • RKWSSEKRFGLEGCEV
  • FQRVIPE
  • RRQILLPFRKPLI
  • TPKSLLR
  • RTVDWALAEYM
  • LSLVANPSHLE
  • VLGFELG
  • DLVCYRR
  • RGTFSHRH
  • KLRPLTASQT
  • KLVEDHLAVQSLIRAYQIRGHHVAQLDPLGILDADLD
  • VLQKYAE
  • LTHIGNVASSVPVE
  • FCTGKVYY
  • GRDPAAAPATGN
  • DEPMFTQPLMY
  • SVHKSWD
  • ERFLQMC

Post-translational modifications for OGDH Gene

  • Ubiquitination at isoforms=2, 374 and isoforms=2534

Domains & Families for OGDH Gene

Gene Families for OGDH Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

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

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

Phenotypes From GWAS Catalog for OGDH Gene

Gene Ontology (GO) - Molecular Function for OGDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004591 oxoglutarate dehydrogenase (succinyl-transferring) activity ISS --
GO:0016491 oxidoreductase activity IEA --
GO:0016624 oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor IEA --
GO:0030976 thiamine pyrophosphate binding IEA --
GO:0031072 heat shock protein 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

CRISPR Products

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OGDH gene
Compartment Confidence
mitochondrion 5
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for OGDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix TAS --
GO:0005829 NOT cytosol IBA --
GO:0031966 mitochondrial membrane ISS --
GO:0045252 oxoglutarate dehydrogenase complex IEA,IBA --
genes like me logo Genes that share ontologies with OGDH: view

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:0006099 tricarboxylic acid cycle TAS,IEA --
GO:0006103 2-oxoglutarate metabolic process IEA --
GO:0006104 succinyl-CoA metabolic process 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Valproic Acid Approved, Investigational Pharma Target, inhibitor HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 333
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
2-Ketobutyric acid Experimental Pharma 0
Succinyl-CoA Experimental Pharma 0

(47) 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
Thiamine pyrophosphate
  • Thaimine pyrophosphate
  • Thiamin diphosphate
  • Thiamin pyrophosphate
  • Thiamin-PPi
  • Thiamine diphosphate
154-87-0
(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
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:

CRISPR Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for OGDH Gene



Protein tissue co-expression partners for OGDH Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of OGDH Gene:

OGDH

SOURCE GeneReport for Unigene cluster for OGDH Gene:

Hs.488181

Evidence on tissue expression from TISSUES for OGDH Gene

  • Nervous system(4.9)
  • Liver(4.7)
  • Muscle(4.7)
  • Bone marrow(4.2)
  • Heart(3.7)
  • Lung(3.4)
  • Kidney(3.3)
  • Pancreas(3.2)
  • Eye(2.2)
  • Stomach(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for OGDH Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • head
  • meninges
  • mouth
  • salivary gland
  • skull
genes like me logo Genes that share expression patterns with OGDH: view

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
chimpanzee
(Pan troglodytes)
Mammalia OGDH 33 34
  • 99.64 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 97 (a)
OneToMany
-- 34
  • 92 (a)
OneToMany
OGDH 33
  • 89.46 (n)
oppossum
(Monodelphis domestica)
Mammalia OGDH 34
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia OGDH 33 34
  • 90.16 (n)
rat
(Rattus norvegicus)
Mammalia Ogdh 33
  • 89.44 (n)
mouse
(Mus musculus)
Mammalia Ogdh 33 16 34
  • 89.21 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia OGDH 34
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves OGDH 33 34
  • 82.78 (n)
lizard
(Anolis carolinensis)
Reptilia OGDH 34
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ogdh 33
  • 78.39 (n)
Str.8708 33
African clawed frog
(Xenopus laevis)
Amphibia MGC68800 33
zebrafish
(Danio rerio)
Actinopterygii ogdhb 34
  • 84 (a)
OneToMany
ogdha 33 34
  • 77.1 (n)
-- 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12508 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006366 33
  • 64.78 (n)
fruit fly
(Drosophila melanogaster)
Insecta Nc73EF 33 34
  • 62.41 (n)
CG11661 35
  • 61 (a)
CG32316-ORFB 35
  • 53 (a)
CG18170 35
  • 51 (a)
CG33791 34
  • 42 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ogdh-1 33 34
  • 57.97 (n)
T22B11.5 35
  • 57 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER374C 33
  • 53.96 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KGD1 33 34 36
  • 51.38 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F04477g 33
  • 50.83 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G55410 33
  • 54.56 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.10739 33
rice
(Oryza sativa)
Liliopsida Os07g0695800 33
  • 57.81 (n)
Os.11872 33
corn
(Zea mays)
Liliopsida Zm.6807 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7934 34
  • 64 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU05425 33
  • 55.61 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC3H7.03c 33
  • 52.36 (n)
Species where no ortholog for OGDH was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs773035937 uncertain-significance, Alpha-ketoglutarate dehydrogenase deficiency 44,696,501(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1000011629 -- 44,689,375(+) C/G genic_downstream_transcript_variant, intron_variant
rs1000035543 -- 44,682,293(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000130570 -- 44,669,703(+) T/C intron_variant
rs1000136731 -- 44,706,408(+) G/A genic_downstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv1906e212 CNV loss 25503493
dgv3787e59 CNV tandem duplication 20981092
esv3376101 CNV duplication 20981092
nsv1078986 CNV insertion 25765185
nsv1117459 CNV tandem duplication 24896259
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)

Additional Variant Information for OGDH Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OGDH

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

Disorders for OGDH Gene

MalaCards: The human disease database

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

- 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

Additional Disease Information for OGDH

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Proceedings of the National Academy of Sciences of the United States of America 1992) 2 3 4 22 58
  2. The gene encoding human 2-oxoglutarate dehydrogenase: structural organization and mapping to chromosome 7p13-p14. (PMID: 7622061) Koike K (Gene 1995) 3 4 22 58
  3. 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 JP (Genomics 1994) 2 3 22 58
  4. Studies on the regulation of the human E1 subunit of the 2-oxoglutarate dehydrogenase complex, including the identification of a novel calcium-binding site. (PMID: 24495017) Armstrong CT … Denton RM (The Biochemical journal 2014) 3 4 58
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58

Products for OGDH Gene

Sources for OGDH Gene

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