Aliases for PDHA2 Gene

Aliases for PDHA2 Gene

  • Pyruvate Dehydrogenase E1 Subunit Alpha 2 2 3 5
  • Pyruvate Dehydrogenase E1 Component Subunit Alpha, Testis-Specific Form, Mitochondrial 3 4
  • Pyruvate Dehydrogenase (Lipoamide) Alpha 2 2 3
  • Pyruvate Dehydrogenase Alpha 2 2 3
  • PDHE1-A Type II 3 4
  • EC 4 51
  • PDHAL 3 4
  • Pyruvate Dehydrogenase, E1-Alpha Polypeptide, Testis Specific 3
  • Pyruvate Dehydrogenase E1 Alpha 2 Subunit 3
  • PDHA2 5

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 Subunit Alpha 2) is a Protein Coding gene. Diseases associated with PDHA2 include Spermatogenic Failure 1. Among its related pathways are Central carbon metabolism in cancer and Carbon metabolism. Gene Ontology (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 Summary 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

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PDHA2 Gene

Genomics for PDHA2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PDHA2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J095837 Enhancer 0.3 Ensembl 261.6 -1.8 -1792 1.4 NANOG POLR2A PDHA2 piR-48222-257 UNC5C
GH04J095815 Enhancer 0.2 Ensembl 10.2 -25.0 -24992 0.2 PDHA2 piR-48222-257 UNC5C
GH04J095870 Enhancer 0.2 Ensembl 7.3 +30.2 30208 0.2 HSALNG0035920 RF00026-808 RNU6-1059P PDHA2 HSALNG0035921
GH04J095760 Enhancer 0.7 Ensembl ENCODE 0.2 -78.7 -78692 1.6 CTBP1 NFE2 ZNF217 SMARCE1 FOXA1 JUND DPF2 NFIB FOSL2 FOS piR-48369-137 piR-48553-223 HSALNG0035917 PDHA2 UNC5C
GH04J095834 Enhancer 0.3 Ensembl 0.4 -6.0 -5992 0.2 GATA2 PDHA2 piR-48222-257 UNC5C
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PDHA2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PDHA2

Top Transcription factor binding sites by QIAGEN in the PDHA2 gene promoter:
  • Chx10
  • Evi-1
  • HNF-1
  • HNF-1A
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for PDHA2 Gene

Latest Assembly
1,372 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
1,372 bases
Plus strand

(GRCh37/hg19 by Ensembl)
1,387 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-291, Ser-293 and Ser-298 by PDK family kinases inactivates the enzyme; for this phosphorylation at a single site is sufficient. Phosphorylation at Ser-293 interferes with access to active site, and thereby inactivates the enzyme. Dephosphorylation at all three sites, i.e. at Ser-291, Ser-293 and Ser-298, 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

  • Dehydrogenase, E1 component

Suggested Antigen Peptide Sequences for PDHA2 Gene

GenScript: Design optimal peptide antigens:
genes like me logo Genes that share domains with PDHA2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PDHA2 Gene

Function for PDHA2 Gene

Molecular function for PDHA2 Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[dihydrolipoyllysine-residue acetyltransferase]-(R)-N(6)-lipoyl-L-lysine + H(+) + pyruvate = [dihydrolipoyllysine-residue acetyltransferase]-(R)-N(6)-(S(8)-acetyldihydrolipoyl)-L-lysine + CO2; Xref=Rhea:RHEA:19189, Rhea:RHEA-COMP:10480, Rhea:RHEA-COMP:10481, ChEBI:CHEBI:15361, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:83099, ChEBI:CHEBI:83111; EC=; Evidence={ECO:0000269|PubMed:16436377};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Pyruvate dehydrogenase activity is inhibited by phosphorylation of PDHA2; it is reactivated by dephosphorylation.
GENATLAS Biochemistry:
pyruvate dehydrogenase,E1 alpha polypeptide 2,testis specific,expressed only in postmeiotic spermatogenic cells

Enzyme Numbers (IUBMB) for PDHA2 Gene

Phenotypes From GWAS Catalog 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 TAS,IDA 16436377
GO:0005515 protein binding IPI 32296183
GO:0016491 oxidoreductase activity IEA --
GO:0016624 oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor IEA --
GO:0034604 pyruvate dehydrogenase (NAD+) activity IEA --
genes like me logo Genes that share ontologies with PDHA2: view
genes like me logo Genes that share phenotypes with PDHA2: view

miRNA for PDHA2 Gene

miRTarBase miRNAs that target PDHA2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDHA2

No data available for 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 4
plasma membrane 1
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 HDA 21630459
GO:0005730 nucleolus IDA --
GO:0005739 mitochondrion IEA,IDA --
GO:0005759 mitochondrial matrix TAS --
GO:0005967 mitochondrial pyruvate dehydrogenase complex IBA 21873635
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 IBA 21873635
GO:0006090 pyruvate metabolic process IDA,TAS --
GO:0006099 tricarboxylic acid cycle IEA --
genes like me logo Genes that share ontologies with PDHA2: view

Drugs & Compounds for PDHA2 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Pyruvic acid Approved, Investigational Nutra 0
2-Ketobutyric acid Experimental Pharma 0
alpha-ketoisovalerate Experimental Pharma 0

(3) 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
  • 2-(a-Hydroxyethyl)thiamine diphosphoric acid
  • 2-(alpha-Hydroxyethyl)thiamine diphosphoric acid
  • 2-(Α-hydroxyethyl)thiamine diphosphate
  • AcCoA
  • Acetyl coenzyme A
  • S-Acetyl-CoA
  • S-Acetyl-coenzyme A
  • Ac-CoA
  • 8-S-Acetyldihydrolipoamide
  • Dihydrolipoyllysine-residue acetyltransferase]S-acetyldihydrolipoyllysine
genes like me logo Genes that share compounds with PDHA2: view

Transcripts for PDHA2 Gene

mRNA/cDNA for PDHA2 Gene

8 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDHA2

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

No ASD Table

Relevant External Links for PDHA2 Gene

GeneLoc Exon Structure for

Expression for PDHA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for PDHA2 Gene

Protein tissue co-expression partners for PDHA2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PDHA2

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 for research

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 30 31
  • 99.83 (n)
(Bos Taurus)
Mammalia PDHA2 30 31
  • 85.22 (n)
(Rattus norvegicus)
Mammalia Pdha1l1 30
  • 81.17 (n)
(Monodelphis domestica)
Mammalia -- 31
  • 80 (a)
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 80 (a)
-- 31
  • 80 (a)
(Mus musculus)
Mammalia Pdha2 31
  • 74 (a)
(Gallus gallus)
Aves PDHA1 31
  • 76 (a)
(Anolis carolinensis)
Reptilia -- 31
  • 76 (a)
(Danio rerio)
Actinopterygii pdha1a 31
  • 74 (a)
pdha1b 31
  • 71 (a)
Fruit Fly
(Drosophila melanogaster)
Insecta CG7010 32
  • 56 (a)
l(1)G0334 30 31
  • 55.98 (n)
CG7024 31 32
  • 37 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003030 30
  • 55.35 (n)
(Caenorhabditis elegans)
Secernentea pdha-1 31
  • 52 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PDA1 31 33
  • 45 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7341 30
(Glycine max)
eudicotyledons Gma.1111 30
(Oryza sativa)
Liliopsida Os.10143 30
(Triticum aestivum)
Liliopsida Ta.14420 30
(Zea mays)
Liliopsida Zm.4776 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 58 (a)
Species where no ortholog for PDHA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Evolutionary constrained regions (ECRs) for PDHA2: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PDHA2 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs200969445 Pathogenic: Oligosynaptic infertility 95,840,829(+) A/G
NM_005390.5(PDHA2):c.679A>G (p.Met227Val)
rs17024795 - p.Arg376Gly

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PDHA2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for PDHA2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assays for research

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

Disorders for PDHA2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PDHA2 Gene - From: CVR

Disorder Aliases PubMed IDs
spermatogenic failure 1
  • spgf1
- elite association - COSMIC cancer census association via MalaCards
Search PDHA2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PDHA2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PDHA2: view

No data available for 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
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  3. Characterization of testis-specific isoenzyme of human pyruvate dehydrogenase. (PMID: 16436377) Korotchkina LG … Patel MS (The Journal of biological chemistry 2006) 3 4
  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
  5. Isolation and characterisation of the mouse pyruvate dehydrogenase E1 alpha genes. (PMID: 1581363) Fitzgerald J … Dahl HH (Biochimica et biophysica acta 1992) 3 23

Products for PDHA2 Gene

Sources for PDHA2 Gene