PDHA2 (pyruvate dehydrogenase E1 subunit alpha 2)

Gene

• Entrez ID: 5161
• Gene name: Pyruvate dehydrogenase E1 subunit alpha 2
• Gene symbol: PDHA2
• Synonyms: PDHAL
• Chromosome: 4
• Chromosome location: 4q22.3

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs200969445	A>G	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000170	hsa-miR-21-5p	Quantitative proteomic approach	19253296
MIRT029395	hsa-miR-26b-5p	Microarray	19088304

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004739	Function	Pyruvate dehydrogenase (acetyl-transferring) activity	IBA	21873635
GO:0004739	Function	Pyruvate dehydrogenase (acetyl-transferring) activity	IDA	16436377
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005730	Component	Nucleolus	IDA
GO:0005739	Component	Mitochondrion	IDA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005967	Component	Mitochondrial pyruvate dehydrogenase complex	IBA	21873635
GO:0006006	Process	Glucose metabolic process	IEA
GO:0006086	Process	Acetyl-CoA biosynthetic process from pyruvate	IBA	21873635
GO:0006090	Process	Pyruvate metabolic process	IDA	16436377
GO:0006090	Process	Pyruvate metabolic process	TAS
GO:0006099	Process	Tricarboxylic acid cycle	IEA
GO:0034604	Function	Pyruvate dehydrogenase (NAD+) activity	IEA

Other IDs

• MIM: 179061
• HGNC: 8807
• e!Ensembl: ENSG00000163114

Protein

• UniProt ID: P29803
• Protein name: Pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial (EC 1.2.4.1) (PDHE1-A type II)
• Protein 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.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00676	E1_dh	63 → 360	Dehydrogenase E1 component	Family

• Sequence:

  MLAAFISRVLRRVAQKSARRVLVASRNSSNDATFEIKKCDLYLLEEGPPVTTVLTRAEGL
  KYYRMMLTVRRMELKADQLYKQKFIRGFCHLCDGQEACCVGLEAGINPSDHVITSYRAHG
  VCYTRGLSVRSILAELTGRRGGCAKGKGGSMHMYTKNFYGGNGIVGAQGPLGAGIALACK
  YKGNDEICLTLYGDGAANQGQIAEAFNMAALWKLPCVFICENNLYGMGTSTERAAASPDY
  YKRGNFIPGLKVDGMDVLCVREATKFAANYCRSGKGPILMELQTYRYHGHSMSDPGVSYR
  TREEIQEVRSKRDPIIILQDRMVNSKLATVEELKEIGAEVRKEIDDAAQFATTDPEPHLE
  ELGHHIYSSDSSFEVRGANPWIKFKSVS

• Sequence length: 388