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PDHA2 Gene

protein-coding   GIFtS: 64
GCID: GC04P096761

Pyruvate Dehydrogenase (Lipoamide) Alpha 2


(Previous symbol: PDHAL)
  See related diseases
at  

(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
Pyruvate Dehydrogenase (Lipoamide) Alpha 21 2
PDHAL1 2 3
PDHE1-A Type II2 3
EC 1.2.4.13 8
Pyruvate Dehydrogenase E1 Component Subunit Alpha, Testis-Specific Form,
Mitochondrial2
Pyruvate Dehydrogenase, E1-Alpha Polypeptide, Testis Specific2

External Ids:    HGNC: 88071   Entrez Gene: 51612   Ensembl: ENSG000001631147   OMIM: 1790615   UniProtKB: P298033   

Export aliases for PDHA2 gene to outside databases

Previous GC identifers: GC04P096974 GC04P097154 GC04P097219 GC04P097118 GC04P092497


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for PDHA2 Gene:
PDHA2 (pyruvate dehydrogenase (lipoamide) alpha 2) is a protein-coding gene. Diseases associated with PDHA2 include lactic acidosis, and morbid obesity. GO annotations related to this gene include pyruvate dehydrogenase (acetyl-transferring) activity. An important paralog of this gene is BCKDHA.

UniProtKB/Swiss-Prot: ODPAT_HUMAN, P29803
Function: The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2),
and thereby links the glycolytic pathway to the tricarboxylic cycle

Gene Wiki entry for PDHA2 (Pyruvate dehydrogenase alpha 2) 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_000004.12  NC_018915.2  NT_016354.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the PDHA2 gene promoter:
         POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   NF-kappaB   POU3F2   HNF-1A   Evi-1   HNF-1   NF-kappaB2   Chx10   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPDHA2 promoter sequence
   Search Chromatin IP Primers for PDHA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PDHA2


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

Entrez Gene cytogenetic band: 4q22-q23   Ensembl cytogenetic band:  4q22.3   HGNC cytogenetic band: 4q22-q23

PDHA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PDHA2 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P096761:  view genomic region     (about GC identifiers)

Start:
96,761,239 bp from pter      End:
96,762,625 bp from pter
Size:
1,387 bases      Orientation:
plus strand

(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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ODPAT_HUMAN, P29803 (See protein sequence)
Recommended Name: Pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial precursor  
Size: 388 amino acids; 42933 Da
Cofactor: Thiamine pyrophosphate
Subunit: Heterotetramer of two PDHA2 and two PDHB subunits. The heterotetramer interacts with DLAT, and is part of
the multimeric pyruvate dehydrogenase complex that contains multiple copies of pyruvate dehydrogenase (E1),
dihydrolipoamide acetyltransferase (DLAT, E2) and lipoamide dehydrogenase (DLD, E3). These subunits are bound to
an inner core composed of about 48 DLAT and 12 PDHX molecules
Sequence caution: Sequence=AAH94760.1; Type=Erroneous initiation;
Secondary accessions: B2R9Q3 Q0VDI5 Q4VC02 Q6NXQ1

Explore the universe of human proteins at neXtProt for PDHA2: NX_P29803

Explore proteomics data for PDHA2 at MOPED

Post-translational modifications: 

  • Phosphorylation at Ser-205, Ser-266 and Ser-273 by PDK family kinases inactivates the enzyme; for this
    phosphorylation at a single site is sufficient. Phosphorylation at Ser-266 interferes with access to active site,
    and thereby inactivates the enzyme. Dephosphorylation at all three sites, i.e. at Ser-205, Ser-266 and Ser-273,
    is required for reactivation1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PDHA2 (P29803) (see all 16)
     GHSMSDP  LCVREAT  IRGFCHL  DGQEACC 


    See PDHA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005381.1  
    ENSEMBL proteins: 
     ENSP00000295266  

    PDHA2 Human Recombinant Protein Products:

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    PDHA2 Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR001017 DH_E1
     IPR017597 Pyrv_DH_E1_asu_subgrp-y

    Graphical View of Domain Structure for InterPro Entry P29803

    ProtoNet protein and cluster: P29803

    1 Blocks protein domain: IPB001017 Dehydrogenase


    PDHA2 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: ODPAT_HUMAN, P29803
    Function: The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2),
    and thereby links the glycolytic pathway to the tricarboxylic cycle
    Catalytic activity: Pyruvate + [dihydrolipoyllysine-residue acetyltransferase] lipoyllysine =
    [dihydrolipoyllysine-residue acetyltransferase] S-acetyldihydrolipoyllysine + CO(2)
    Enzyme regulation: Pyruvate dehydrogenase activity is inhibited by phosphorylation of PDHA2; it is reactivated by
    dephosphorylation

         Genatlas biochemistry entry for PDHA2:
    pyruvate dehydrogenase,E1 alpha polypeptide 2,testis specific,expressed only in postmeiotic spermatogenic cells

         Enzyme Number (IUBMB): EC 1.2.4.11 2

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004739pyruvate dehydrogenase (acetyl-transferring) activity IDA16436377
    GO:0016624oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor ----
         
    PDHA2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PDHA2:
     Decreased TP53 protein express 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PDHA2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PDHA2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PDHA2

    miRNA
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    miRTarBase miRNAs that target PDHA2:
    hsa-mir-21-5p (MIRT000170), hsa-mir-26b-5p (MIRT029395)

    Block miRNA regulation of human, mouse, rat PDHA2 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate PDHA2
    SwitchGear 3'UTR luciferase reporter plasmidPDHA2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PDHA2

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: PDHA2 (NM_005390)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PDHA2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PDHA2

    Cell Line
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDHA2


    (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
    ODPAT_HUMAN, P29803: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005759mitochondrial matrix IEA--
    GO:0043231intracellular membrane-bounded organelle ----

    PDHA2 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 PDHA2 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Citric acid cycle (TCA cycle)
    Citrate cycle (TCA cycle)0.55
    pyruvate decarboxylation to acetyl CoA0.00
    conversion of glucose to acetyl CoA and entry into the TCA cycle0.43
    2Glycolysis and gluconeogenesis short map
    Glycolysis and Gluconeogenesis0.60
    Glycolysis / Gluconeogenesis0.46
    3Carbon metabolism
    Carbon metabolism0.38
    4Metabolism
    Metabolic pathways0.38
    5Pyruvate metabolism
    Pyruvate metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for PDHA2
        Acetylcholine Synthesis
    pyruvate decarboxylation to acetyl CoA
    Glycolysis and Gluconeogenesis
    conversion of glucose to acetyl CoA and entry into the TCA cycle


    Selected Kegg Pathways  (Kegg details for PDHA2) (see all 6):
        Glycolysis / Gluconeogenesis
    Citrate cycle (TCA cycle)
    Pyruvate metabolism
    Metabolic pathways
    Carbon metabolism


    PDHA2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PDHA2: 
              Amino Acid Metabolism II in human mouse rat
              Glucose Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PDHA2

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

    Selected Interacting proteins for PDHA2 (P298033 ENSP000002952664) via UniProtKB, MINT, STRING, and/or I2D (see all 177)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583I2D: score=2 
    CALM2P621583I2D: score=2 
    CALM3P621583I2D: score=2 
    PDHBP111773, ENSP000003072414I2D: score=7 STRING: ENSP00000307241
    DLATP105153, ENSP000002803464I2D: score=5 STRING: ENSP00000280346
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006090pyruvate metabolic process IDA16436377
    GO:0006096glycolytic process IEA--
    GO:0006099tricarboxylic acid cycle IEA--
    GO:0008152metabolic process ----
    GO:0055114oxidation-reduction process ----

    PDHA2 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 PDHA2 (ODPAT)

    Selected HMDB Compounds for PDHA2 (see all 11)    About this table
    CompoundSynonyms CAS #PubMed Ids
    2-Ketobutyric acid2-Ketobutanoate (see all 35)600-18-03718468
    Alpha-ketoisovaleric acid2-Ketoisovalerate (see all 45)759-05-76822537
    2-(a-Hydroxyethyl)thiamine diphosphate2-Hydroxyethyl-ThPP (see all 6)10055-47-7--
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    Coenzyme AAcetoacetyl coenzyme A sodium salt (see all 21)85-61-0--
    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--
    Pyruvic acid2-Oxopropanoate (see all 14)127-17-3--
    S-Acetyldihydrolipoamide-EDihydrolipoyllysine-residue acetyltransferase]S-acetyldihydrolipoyllysine ----

    1 DrugBank Compound for PDHA2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423



    (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,
    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 PDHA2 gene: 
    NM_005390.4  

    Unigene Cluster for PDHA2:

    Pyruvate dehydrogenase (lipoamide) alpha 2
    Hs.131361  [show with all ESTs]
    Unigene Representative Sequence: BC030697
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000295266(uc003htr.4)
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat PDHA2
      QuantiFast Probe-based Assays in human, mouse, rat PDHA2

    Additional mRNA sequence: 

    AK313872.1 BC030697.2 BC066953.1 BC094760.1 BC119656.1 BC119657.1 BC127637.1 BC127638.1 

    1 DOTS entry:

    DT.104294 

    14 AceView cDNA sequences:

    NM_005390 BX110409 AA927400 AL042405 BC066953 BC030697 BG771859 BI827766 
    BG720912 CD359504 BI831874 BI462885 BU854475 AI393336 

    GeneLoc Exon Structure


    (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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    PDHA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTCAAATTTA
    PDHA2 Expression
    About this image


    PDHA2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Cerebral Cortex
             ganglion/cranial   
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             Testis Interstitium
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Peripheral Nervous System (Nervous System)
     
     Spinal Cord (Nervous System)
    PDHA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PDHA2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.131361

    UniProtKB/Swiss-Prot: ODPAT_HUMAN, P29803
    Tissue specificity: Testis. Expressed in postmeiotic spermatogenic cells

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PDHA2: 
              Amino Acid Metabolism II in human mouse rat
              Glucose Metabolism in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for PDHA2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PDHA2
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    QuantiFast Probe-based Assays in human, mouse, rat PDHA2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDHA2

    (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 PDHA2 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pdha25 pyruvate dehydrogenase E1 alpha 2   --   3 (65.30 cM) 141210004 
    chicken
    (Gallus gallus)
    Aves PDHA16
    Gallus gallus pyruvate dehydrogenase (lipoamide) a...
    76(a)
    1 → many
    1(119705079-119717030)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    76(a)
    1 → many
    3(123386156-123414060)
    zebrafish
    (Danio rerio)
    Actinopterygii pdha1a6
    pdha1b6
    pyruvate dehydrogenase (lipoamide) alpha 1b
    74(a)
    71(a)
    many ↔ many
    many ↔ many
    5(25700249-25713659) ENSDARG00000012387
    24(24881397-24889754) ENSDARG00000010555
    fruit fly
    (Drosophila melanogaster)
    Insecta CG70103
    l(1)G03341
    pyruvate dehydrogenase (lipoamide)3
    lethal (1) G03341
    56(a)
    (best of 2)3
    55.98(n)1
    55.71(a)1
      4C143
    314061  NM_131953.41  NP_572181.41 
    worm
    (Caenorhabditis elegans)
    Secernentea pdha-16
    Protein PDHA-1, isoform b
    52(a)
    1 → many
    II(8066111-8068184) WBGene00011510
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PDA1(YER178W)4 E1 alpha subunit of the pyruvate dehydrogenase (PDH) more   --   5(546817-548079) 856925  NP_011105.2 
    soybean
    (Glycine max)
    eudicotyledons Gma.11112 Transcribed sequence with moderate similarity to protein more 72.1(n)  
    rice
    (Oryza sativa)
    Liliopsida Os.101432 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.8(n)    AK062242.1 


    ENSEMBL Gene Tree for PDHA2 (if available)
    TreeFam Gene Tree for PDHA2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PDHA2 gene
    BCKDHA2  ENSG000002557302  PDHA12  
    2 SIMAP similar genes for PDHA2 using alignment to 1 protein entry:     ODPAT_HUMAN:
    PDHA1/LOC79064    PDHA1

    PDHA2 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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    Selected SNPs for PDHA2 (see all 162)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs9201551,2
    C,F,H--96759250(-) ACAGGC/ATCTAG 1 -- us2k115Minor allele frequency- A:0.19NA WA CSA EA 510
    rs170247381,2
    C,F,H--96759296(+) GGAACC/GCGTAG 1 -- us2k122Minor allele frequency- G:0.09NA NS EA CSA WA 2710
    rs1904291801,2
    --96759298(+) AACCCA/GTAGTA 1 -- us2k10--------
    rs1928643141,2
    --96759301(+) CCGTAA/GTACAG 1 -- us2k10--------
    rs174090651,2
    C,F,H--96759338(+) GTTCTC/TTTCTG 1 -- us2k118Minor allele frequency- T:0.06NA NS EA 2246
    rs1143914551,2
    F--96759353(+) GAGTCG/AGGTTT 1 -- us2k11Minor allele frequency- A:0.01NA 120
    rs174091001,2
    C,F,H--96759362(+) TTAGGC/TTTGAC 1 -- us2k126Minor allele frequency- T:0.08NA NS EA WA 2876
    rs1148330661,2
    F--96759363(+) TAGGCT/CTGACA 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs1841206701,2
    --96759419(+) TGTGAC/TAAGAT 1 -- us2k10--------
    rs169965191,2
    C,F--96759448(+) TGTACA/GGCTCT 1 -- us2k118Minor allele frequency- N:0.00NA EA NS WA CSA 1421

    HapMap Linkage Disequilibrium report for PDHA2 (96761239 - 96762625 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for PDHA2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv879628CNV Loss21882294
    nsv10537CNV Loss18304495
    nsv879629CNV Loss21882294

    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 179061    OMIM disorders: --

    4 diseases for PDHA2:    
    About MalaCards
    lactic acidosis    morbid obesity    obesity    cerebritis


    PDHA2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): PDHA2
    Human Genome Epidemiology (HuGE) Navigator: PDHA2 (1 document)

    Export disorders for PDHA2 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 PDHA2 gene, integrated from 10 sources (see all 29):
    (articles sorted by number of sources associating them with PDHA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Pyruvate dehydrogenase complex: mRNA and protein expression patterns of E1alpha subunit genes in human spermatogenesis. (PubMed id 22750801)1, 2 Pinheiro A.... Rivera I. (Gene 2012)
    2. 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)
    3. Characterization of testis-specific isoenzyme of human pyruvate dehydrogenase. (PubMed id 16436377)1, 2 Korotchkina L.G.... Patel M.S. (J. Biol. Chem. 2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. A testis-specific form of the human pyruvate dehydrogenase E1 alpha subunit is coded for by an intronless gene on chromosome 4. (PubMed id 2249846)1, 2 Dahl H.-H.M.... Brown G.K. (Genomics 1990)
    6. Isolation and characterisation of the mouse pyruvate dehydrogenase E1 alpha genes. (PubMed id 1581363)1, 9 Fitzgerald J....Dahl H.H. (Biochim. Biophys. Acta 1992)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    8. Demethylation of the coding region triggers the activation of the human testis-specific PDHA2 gene in somatic tissues. (PubMed id 22675509)1 Pinheiro A....Rivera I. (PLoS ONE 2012)
    9. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    10. Human testis-specific PDHA2 gene: methylation status of a CpG island in the open reading frame correlates with transcriptional activity. (PubMed id 20005141)1 Pinheiro A....Rivera I. (Mol. Genet. Metab. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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

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    Entrez Gene: 5161 HGNC: 8807 AceView: PDHA2 Ensembl:ENSG00000163114 euGenes: HUgn5161
    ECgene: PDHA2 Kegg: 5161 H-InvDB: PDHA2

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for PDHA2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PDHA2 Genetics and Cytogenetics in Oncology and Haematology

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

    TryGeneCards Plus
    Patent Information for PDHA2 gene:
    Search GeneIP for patents involving PDHA2

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



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