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Aliases for PDHA2 Gene

Aliases for PDHA2 Gene

  • Pyruvate Dehydrogenase (Lipoamide) Alpha 2 2 3 5
  • PDHE1-A Type II 3 4
  • EC 1.2.4.1 4 63
  • PDHAL 3 4
  • Pyruvate Dehydrogenase, E1-Alpha Polypeptide, Testis Specific 3

External Ids for PDHA2 Gene

Previous HGNC Symbols for PDHA2 Gene

  • PDHAL

Previous GeneCards Identifiers for PDHA2 Gene

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

Summaries for PDHA2 Gene

GeneCards Summary for PDHA2 Gene

PDHA2 (Pyruvate Dehydrogenase (Lipoamide) Alpha 2) is a Protein Coding gene. Among its related pathways are Glucagon signaling pathway and Carbon 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 BCKDHA.

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

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

Genomics for PDHA2 Gene

Genomic Location for PDHA2 Gene

Chromosome:
4
Start:
95,840,019 bp from pter
End:
95,841,474 bp from pter
Size:
1,456 bases
Orientation:
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:
    P29803-ODPAT_HUMAN
    Recommended name:
    Pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial
    Protein Accession:
    P29803
    Secondary Accessions:
    • B2R9Q3
    • Q0VDI5
    • Q4VC02
    • Q6NXQ1

    Protein attributes for PDHA2 Gene

    Size:
    388 amino acids
    Molecular mass:
    42933 Da
    Cofactor:
    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.
    SequenceCaution:
    • Sequence=AAH94760.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for PDHA2 Gene

Proteomics data for PDHA2 Gene at MOPED

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

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 Gene Families and 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
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

miRNA for PDHA2 Gene

miRTarBase miRNAs that target 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

COMPARTMENTS
Jensen Localization Image for PDHA2 Gene COMPARTMENTS Subcellular localization image for PDHA2 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 1

Gene Ontology (GO) - Cellular Components for PDHA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005759 mitochondrial matrix IEA --
GO:0045254 pyruvate dehydrogenase complex 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:0006006 glucose metabolic process 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
Pyruvic acid Approved Nutra 0
2-Ketobutyric acid Experimental Pharma 0
alpha-ketoisovalerate Experimental Pharma 0
thiamin diphosphate Experimental Pharma 0
NADH Nutra Target 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
10055-47-7
acetyl-coa
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
72-89-9
carbon dioxide
  • Carbon oxide
  • Carbon-12 dioxide
  • Carbonic acid anhydride
  • Carbonic acid gas
  • Carbonic anhydride
124-38-9
S-Acetyldihydrolipoamide-E
  • 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

(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:

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

No ASD Table

Relevant External Links for PDHA2 Gene

GeneLoc Exon Structure for
PDHA2
ECgene alternative splicing isoforms for
PDHA2

Expression for PDHA2 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for PDHA2 Gene



SOURCE GeneReport for Unigene cluster for PDHA2 Gene Hs.131361

mRNA Expression by UniProt/SwissProt for PDHA2 Gene

P29803-ODPAT_HUMAN
Tissue specificity: Testis. Expressed in postmeiotic spermatogenic cells.
genes like me logo Genes that share expression patterns with PDHA2: view

Protein tissue co-expression partners for PDHA2 Gene

Primer Products

Orthologs for PDHA2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PDHA2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PDHA2 35
  • 85.22 (n)
  • 84.54 (a)
PDHA2 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PDHA2 35
  • 99.83 (n)
  • 99.74 (a)
PDHA2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pdha1l1 35
  • 81.17 (n)
  • 86.01 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 80 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Pdha2 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 80 (a)
ManyToMany
-- 36
  • 80 (a)
ManyToMany
chicken
(Gallus gallus)
Aves PDHA1 36
  • 76 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 76 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii pdha1a 36
  • 74 (a)
ManyToMany
pdha1b 36
  • 71 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7010 37
  • 56 (a)
CG7024 37
  • 53 (a)
l(1)G0334 35
  • 55.98 (n)
  • 55.71 (a)
CG7024 36
  • 37 (a)
ManyToMany
l(1)G0334 36
  • 47 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003030 35
  • 55.35 (n)
  • 56.14 (a)
worm
(Caenorhabditis elegans)
Secernentea pdha-1 36
  • 52 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PDA1 36
  • 45 (a)
OneToMany
PDA1 38
soybean
(Glycine max)
eudicotyledons Gma.1111 35
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7341 35
rice
(Oryza sativa)
Liliopsida Os.10143 35
wheat
(Triticum aestivum)
Liliopsida Ta.14420 35
corn
(Zea mays)
Liliopsida Zm.4776 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 58 (a)
OneToMany
Species with no ortholog for PDHA2:
  • 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

ENSEMBL:
Gene Tree for PDHA2 (if available)
TreeFam:
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
VAR_034358 -
rs17024795 - 95,841,276(+) AAGTT(A/C/G)GTGGT reference, missense
rs893040 -- 95,839,034(-) AGTGT(A/T)ACTTC upstream-variant-2KB
rs920155 -- 95,838,099(-) ACAGG(A/C)TCTAG upstream-variant-2KB
rs1006643 -- 95,839,426(-) TAACA(A/C)TTTAA upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv879628 CNV Loss 21882294
nsv879629 CNV Loss 21882294
nsv10537 CNV Loss 18304495

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for PDHA2 Gene

Disorders for PDHA2 Gene

Relevant External Links for PDHA2

Genetic Association Database (GAD)
PDHA2
Human Genome Epidemiology (HuGE) Navigator
PDHA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PDHA2

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 E1alpha subunit genes in human spermatogenesis. (PMID: 22750801) Pinheiro A. … Rivera I. (Gene 2012) 3 4 67
  2. Isolation and characterisation of the mouse pyruvate dehydrogenase E1 alpha genes. (PMID: 1581363) Fitzgerald J. … Dahl H.H. (Biochim. Biophys. Acta 1992) 3 23
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. Demethylation of the coding region triggers the activation of the human testis-specific PDHA2 gene in somatic tissues. (PMID: 22675509) Pinheiro A. … Rivera I. (PLoS ONE 2012) 3
  5. A census of human soluble protein complexes. (PMID: 22939629) Havugimana P.C. … Emili A. (Cell 2012) 3

Products for PDHA2 Gene

Sources for PDHA2 Gene

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