PDHA2 Gene
protein-coding GIFtS: 62
GCID: GC04P096761
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|
pyruvate dehydrogenase (lipoamide) alpha 2
(Previous symbol: PDHAL)
| |
Aliases
for PDHA2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| 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 |
Export aliases for PDHA2 gene to outside databasesPrevious GC identifers: GC04P096974 GC04P097154 GC04P097219 GC04P097118 GC04P092497 |
Summaries
for PDHA2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: ODPAT_HUMAN, P29803Function: The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), andthereby links the glycolytic pathway to the tricarboxylic cycle
Gene Wiki entry for PDHA2 (Pyruvate dehydrogenase alpha 2)
|
Genomic Views
for PDHA2 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000004.11 NC_018915.1 NT_016354.19
Regulatory elements:
 SABiosciences 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
Search SABiosciences Chromatin IP Primers for PDHA2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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-q23PDHA2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 4 GeneLoc Exon Structure GeneLoc location for GC04P096761: view genomic region
(about GC identifiers)
Start:
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96,761,239 bp from pter |
End:
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96,762,625 bp from pter |
Size:
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1,387 bases |
Orientation:
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plus strand |
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Proteins
for PDHA2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
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 themultimeric 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 aninner core composed of about 48 DLAT and 12 PDHX molecules
Subcellular location: Mitochondrion matrix
Sequence caution: Sequence=AAH94760.1; Type=Erroneous initiation;
Secondary accessions: B2R9Q3 Q0VDI5 Q4VC02 Q6NXQ1Explore the universe of human proteins at neXtProt for PDHA2: NX_P29803
Post-translational modifications:
Phosphorylation at Ser-205, Ser-266 and Ser-273 by PDK family kinases inactivates the enzyme; for this phosphorylationat a single site is sufficient. Phosphorylation at Ser-266 interferes with access to active site, and therebyinactivates the enzyme. Dephosphorylation at all three sites, i.e. at Ser-205, Ser-266 and Ser-273, is required forreactivation1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P29803
4/16 DME Specific Peptides for PDHA2 (P29803) (see all 16)
PDHA2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_005381.1
ENSEMBL proteins: ENSP00000295266
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005759 | mitochondrial matrix |
IEA | -- |
PDHA2 for ontologies About GeneDecksing
PDHA2 Antibody Products:
Assay Products for PDHA2: |
Protein
Domains /
Families
for PDHA2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
PDHA2 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P29803ProtoNet protein and cluster: P29803 1 Blocks protein family: IPB001017 Dehydrogenase
|
Function
for PDHA2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: ODPAT_HUMAN, P29803Function: The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), andthereby links the glycolytic pathway to the tricarboxylic cycleCatalytic 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 bydephosphorylation 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
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PDHA2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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Synthesis Service for PDHA2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PDHA2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDHA2 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004739 | pyruvate dehydrogenase (acetyl-transferring) activity |
IDA | 16436377 |
PDHA2 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for PDHA2:
|
Pathways & Interactions
for PDHA2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | TCA Cycle | | | 2 | Glycolysis and gluconeogenesis (short map) | | | 3 | Acetylcholine Synthesis | | | 4 | pyruvate decarboxylation to acetyl CoA | | | 5 | Pyruvate metabolism | |
Pathway sources
See GeneCards unified pathways
Show all pathways
4  BioSystems Pathways for PDHA2
5/6 
Kegg Pathways (Kegg details for PDHA2) (see all 6):
PDHA2 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PDHA2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/162 Interacting proteins for PDHA2 (P298033 ENSP000002952664) via UniProtKB, MINT, STRING, and/or I2D (see all 162)About this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table
PDHA2 for ontologies About GeneDecksing
|
Drugs & Compounds
for PDHA2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for PDHA2
10/11 HMDB Compounds for PDHA2 (see all 11) About this table
1 DrugBank Compound for PDHA2 About this table
Search CenterWatch for drugs/clinical trials and news about PDHA2 / ODPAT
|
Transcripts
for PDHA2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
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: BC0306971 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000295266(uc003htr.4)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PDHA2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PDHA2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: PDHA2 (NM_005390) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PDHA2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PDHA2 |
Additional cDNA 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: BX110409 NM_005390 AA927400 BC030697 BC066953 AL042405 BI831874 BG720912 CD359504 BG771859 BI827766 BI462885 BU854475 AI393336
GeneLoc Exon Structure
|
Expression
for PDHA2 gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| PDHA2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTCAAATTTA
About this image
See PDHA2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PDHA2
SOURCE GeneReport for Unigene cluster: Hs.131361
UniProtKB/Swiss-Prot: ODPAT_HUMAN, P29803Tissue specificity: Testis. Expressed in postmeiotic spermatogenic cells
SABiosciences Expression via Pathway-Focused PCR Arrays including PDHA2: | Amino Acid Metabolism II in human mouse rat | | Glucose Metabolism in human mouse rat |
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PDHA2
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDHA2 |
Orthologs
for PDHA2 gene
(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)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for PDHA2 gene from 7/30 species (see all 30) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
Q5F426_CHICK6 |
pyruvate dehydrogenase (lipoamide) alpha 1 |
76(a) |
1 → many |
1(123735114-123747150) |
lizard
(Anolis carolinensis) |
Reptilia |
-- |
-- |
77(a) |
1 → many |
3(123397319-123411169) |
zebrafish
(Danio rerio) |
Actinopterygii |
pdha1a6pdha1b6 |
pyruvate dehydrogenase (lipoamide) alpha 1b |
74(a)73(a) |
many ↔ manymany ↔ many |
5(25700249-25713659) 24(24881397-24889754) |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG70103 |
pyruvate dehydrogenase (lipoamide) |
56(a)
(best of 2) |
|
4C14 -- |
worm
(Caenorhabditis elegans) |
Secernentea |
pdha-16 |
Probable pyruvate dehydrogenase E1 component subun... |
52(a) |
1 → many |
II(8066059-8068132) |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
IAR46AT-E1 ALPHA6(see all 3) |
pyruvate dehydrogenase complex E1 alpha subunit(see all 3) |
47(a)47(a)(see all 3) |
many ↔ manymany ↔ many(see all 3) |
1(8560525-8563495) 1(22051295-22053885) |
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
for PDHA2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for PDHA2 gene
- BCKDHA2 PDHA12 ENSG000002557302
2 SIMAP similar genes for PDHA2 using alignment to 1 protein entry: ODPAT_HUMAN:PDHA1/LOC79064 PDHA1
PDHA2 for paralogs About GeneDecksing
|
Genomic Variants
for PDHA2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for PDHA2
1 CNV: 32624 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PDHA2 |
|
Disorders
/ Diseases
for PDHA2 gene
(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
|
PDHA2 for disorders About GeneDecksing
OMIM gene information: 179061
OMIM disorders: --
4  diseases for PDHA2: About MalaCardslactic acidosis morbid obesity obesity malaria
Human Genome Epidemiology (HuGE) Navigator: PDHA2 (1 document)
Export disorders for PDHA2 gene to outside databases
|
Publications
for PDHA2 gene (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)
About This Section
|
PubMed articles for PDHA2 gene, integrated from 9 sources (see all 28):
(articles sorted by number of sources associating them with PDHA2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Pyruvate dehydrogenase complex: mRNA and protein expression patterns of E1alpha subunit genes in human spermatogenesis. (PubMed id 22750801)1, 2 Pinheiro A.... Rivera I. (2012)
- Characterization of testis-specific isoenzyme of human pyruvate dehydrogenase. (PubMed id 16436377)1, 2 Korotchkina L.G....Patel M.S. (2006)
- 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. (2004)
- 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. (1990)
- Isolation and characterisation of the mouse pyruvate dehydrogenase E1 alpha genes. (PubMed id 1581363)1, 9 Fitzgerald J....Dahl H.H. (1992)
- A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
- Demethylation of the coding region triggers the activa tion of the human testis-specific PDHA2 gene in somatic tissues. (PubMed id 22675509)1 Pinheiro A....Rivera I. (2012)
- Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)1 Lin Y.Y....Boeke J.D. (2012)
- System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
- Human testis-specific PDHA2 gene: methylation status of a CpG island in the open reading frame correlates with transcriptional activ ity. (PubMed id 20005141)1 Pinheiro A....Rivera I. (2010)
|
External Searches for PDHA2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing PDHA2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing PDHA2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing PDHA2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
|
About This Section
| 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
|
Products
for PDHA2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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