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Aliases for PDHA2 Gene

Aliases for PDHA2 Gene

  • Pyruvate Dehydrogenase E1 Alpha 2 Subunit 2 3
  • Pyruvate Dehydrogenase Alpha 2 2 3 5
  • Pyruvate Dehydrogenase (Lipoamide) Alpha 2 2 3
  • PDHE1-A Type II 3 4
  • EC 4 58
  • PDHAL 3 4
  • Pyruvate Dehydrogenase E1 Component Subunit Alpha, Testis-Specific Form, Mitochondrial 3
  • Pyruvate Dehydrogenase, E1-Alpha Polypeptide, Testis Specific 3

External Ids for PDHA2 Gene

Previous HGNC Symbols for PDHA2 Gene


Previous GeneCards Identifiers for PDHA2 Gene

  • GC04P096974
  • GC04P097154
  • GC04P097219
  • GC04P097118
  • GC04P096761
  • GC04P092497

Summaries for PDHA2 Gene

GeneCards Summary for PDHA2 Gene

PDHA2 (Pyruvate Dehydrogenase E1 Alpha 2 Subunit) is a Protein Coding gene. Among its related pathways are Glucagon signaling pathway and Glucose metabolism. GO annotations related to this gene include oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor and pyruvate dehydrogenase (acetyl-transferring) activity. An important paralog of this gene is PDHA1.

UniProtKB/Swiss-Prot for PDHA2 Gene

  • 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 Gene

Additional gene information for PDHA2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDHA2 Gene

Genomics for PDHA2 Gene

Genomic Locations for PDHA2 Gene

Genomic Locations for PDHA2 Gene
1,456 bases
Plus strand

Genomic View for PDHA2 Gene

Genes around PDHA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDHA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDHA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDHA2 Gene

Proteins for PDHA2 Gene

  • Protein details for PDHA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B2R9Q3
    • Q0VDI5
    • Q4VC02
    • Q6NXQ1

    Protein attributes for PDHA2 Gene

    388 amino acids
    Molecular mass:
    42933 Da
    Name=thiamine diphosphate; Xref=ChEBI:CHEBI:58937;
    Quaternary structure:
    • 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=AAH94760.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for PDHA2 Gene

Selected DME Specific Peptides for PDHA2 Gene


Post-translational modifications for PDHA2 Gene

  • 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 reactivation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PDHA2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PDHA2 Gene

Gene Families for PDHA2 Gene

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

Protein Domains for PDHA2 Gene

Suggested Antigen Peptide Sequences for PDHA2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PDHA2: view

No data available for UniProtKB/Swiss-Prot for PDHA2 Gene

Function for PDHA2 Gene

Molecular function for PDHA2 Gene

GENATLAS Biochemistry:
pyruvate dehydrogenase,E1 alpha polypeptide 2,testis specific,expressed only in postmeiotic spermatogenic cells
UniProtKB/Swiss-Prot CatalyticActivity:
Pyruvate + [dihydrolipoyllysine-residue acetyltransferase] lipoyllysine = [dihydrolipoyllysine-residue acetyltransferase] S-acetyldihydrolipoyllysine + CO(2).
UniProtKB/Swiss-Prot EnzymeRegulation:
Pyruvate dehydrogenase activity is inhibited by phosphorylation of PDHA2; it is reactivated by dephosphorylation.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for PDHA2 Gene

Gene Ontology (GO) - Molecular Function for PDHA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004739 pyruvate dehydrogenase (acetyl-transferring) activity IDA 16436377
GO:0016491 oxidoreductase activity IEA --
GO:0016624 oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor IEA --
genes like me logo Genes that share ontologies with PDHA2: view
genes like me logo Genes that share phenotypes with PDHA2: view

Animal Model Products

CRISPR Products

miRNA for PDHA2 Gene

miRTarBase miRNAs that target PDHA2

Inhibitory RNA Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PDHA2 Gene

Localization for PDHA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDHA2 Gene

Mitochondrion matrix.

Subcellular locations from

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 PDHA2 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PDHA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005730 nucleolus IDA --
GO:0005739 mitochondrion IBA,IDA --
GO:0005759 mitochondrial matrix TAS --
GO:0043231 intracellular membrane-bounded organelle IEA --
genes like me logo Genes that share ontologies with PDHA2: view

Pathways & Interactions for PDHA2 Gene

genes like me logo Genes that share pathways with PDHA2: view

SIGNOR curated interactions for PDHA2 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for PDHA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006006 glucose metabolic process IEA --
GO:0006086 acetyl-CoA biosynthetic process from pyruvate IEA --
GO:0006090 pyruvate metabolic process TAS,IDA --
GO:0006099 tricarboxylic acid cycle IEA --
genes like me logo Genes that share ontologies with PDHA2: view

Drugs & Compounds for PDHA2 Gene

(8) Drugs for PDHA2 Gene - From: DrugBank, DGIdb, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbon dioxide Approved, Vet_approved Pharma 0
Pyruvic acid Approved, Investigational Nutra 0
2-Ketobutyric acid Experimental Pharma 0
alpha-ketoisovalerate Experimental Pharma 0
CPI-613 Investigational Pharma PDH/α-KGDH inhibitor 0

(4) Additional Compounds for PDHA2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
  • Dihydrolipoyllysine-residue acetyltransferase]S-acetyldihydrolipoyllysine
Thiamine pyrophosphate
  • Thaimine pyrophosphate
  • Thiamin diphosphate
  • Thiamin pyrophosphate
  • Thiamin-PPi
  • Thiamine diphosphate
genes like me logo Genes that share compounds with PDHA2: view

Transcripts for PDHA2 Gene

mRNA/cDNA for PDHA2 Gene

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(14) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PDHA2 Gene

Pyruvate dehydrogenase (lipoamide) alpha 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for PDHA2 Gene

No ASD Table

Relevant External Links for PDHA2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PDHA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PDHA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PDHA2 Gene

This gene is overexpressed in Testis (x52.6).

Protein differential expression in normal tissues from HIPED for PDHA2 Gene

This gene is overexpressed in Brain (48.8) and Testis (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PDHA2 Gene

Protein tissue co-expression partners for PDHA2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PDHA2 Gene:


SOURCE GeneReport for Unigene cluster for PDHA2 Gene:


mRNA Expression by UniProt/SwissProt for PDHA2 Gene:

Tissue specificity: Testis. Expressed in postmeiotic spermatogenic cells.
genes like me logo Genes that share expression patterns with PDHA2: view

Primer Products

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PDHA2 Gene

Orthologs for PDHA2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PDHA2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PDHA2 34 33
  • 99.83 (n)
(Bos Taurus)
Mammalia PDHA2 33 34
  • 85.22 (n)
(Rattus norvegicus)
Mammalia Pdha1l1 33
  • 81.17 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 80 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 80 (a)
-- 34
  • 80 (a)
(Mus musculus)
Mammalia Pdha2 34
  • 74 (a)
(Gallus gallus)
Aves PDHA1 34
  • 76 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 76 (a)
(Danio rerio)
Actinopterygii pdha1a 34
  • 74 (a)
pdha1b 34
  • 71 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7010 35
  • 56 (a)
l(1)G0334 33 34
  • 55.98 (n)
CG7024 35 34
  • 53 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003030 33
  • 55.35 (n)
(Caenorhabditis elegans)
Secernentea pdha-1 34
  • 52 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PDA1 34 36
  • 45 (a)
(Glycine max)
eudicotyledons Gma.1111 33
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7341 33
(Zea mays)
Liliopsida Zm.4776 33
(Triticum aestivum)
Liliopsida Ta.14420 33
(Oryza sativa)
Liliopsida Os.10143 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 58 (a)
Species where no ortholog for PDHA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)

Evolution for PDHA2 Gene

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

Paralogs for PDHA2 Gene

Paralogs for PDHA2 Gene

(2) SIMAP similar genes for PDHA2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PDHA2: view

Variants for PDHA2 Gene

Sequence variations from dbSNP and Humsavar for PDHA2 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1001688894 -- 95,838,999(+) CCAAA(A/C)TGTGT upstream-variant-2KB
rs1002249809 -- 95,838,184(+) TATGT(C/T)CTCTT upstream-variant-2KB
rs1002858207 -- 95,839,613(+) TTACA(G/T)CTTTG upstream-variant-2KB
rs1003299971 -- 95,839,313(+) AGAGT(A/C)AGGAA upstream-variant-2KB
rs1004212949 -- 95,841,427(+) AAAAG(A/C)CTTGT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for PDHA2 Gene

Variant ID Type Subtype PubMed ID
nsv10537 CNV loss 18304495
nsv594915 CNV gain 21841781
nsv997304 CNV gain 25217958

Variation tolerance for PDHA2 Gene

Residual Variation Intolerance Score: 75.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.66; 56.96% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PDHA2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDHA2 Gene

Disorders for PDHA2 Gene

Relevant External Links for PDHA2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for PDHA2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PDHA2 Gene

Publications for PDHA2 Gene

  1. Pyruvate dehydrogenase complex: mRNA and protein expression patterns of E1α subunit genes in human spermatogenesis. (PMID: 22750801) Pinheiro A … Rivera I (Gene 2012) 3 4 60
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60
  3. Characterization of testis-specific isoenzyme of human pyruvate dehydrogenase. (PMID: 16436377) Korotchkina LG … Patel MS (The Journal of biological chemistry 2006) 3 4 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. Isolation and characterisation of the mouse pyruvate dehydrogenase E1 alpha genes. (PMID: 1581363) Fitzgerald J … Dahl HH (Biochimica et biophysica acta 1992) 3 22 60

Products for PDHA2 Gene

Sources for PDHA2 Gene

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