PDHA2 (pyruvate dehydrogenase E1 subunit alpha 2)

Gene

• Entrez ID: 5161
• Gene name: Pyruvate dehydrogenase E1 subunit alpha 2
• Gene symbol: PDHA2
• Synonyms (NCBI Gene): PDHAL, SPGF70
• 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
MIRT2590471	hsa-miR-4461	CLIP-seq
MIRT2590472	hsa-miR-543	CLIP-seq
MIRT2590473	hsa-miR-591	CLIP-seq
MIRT2590471	hsa-miR-4461	CLIP-seq
MIRT2590472	hsa-miR-543	CLIP-seq
MIRT2590473	hsa-miR-591	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004739	Function	Pyruvate dehydrogenase (acetyl-transferring) activity	IBA
GO:0004739	Function	Pyruvate dehydrogenase (acetyl-transferring) activity	IDA	16436377
GO:0004739	Function	Pyruvate dehydrogenase (acetyl-transferring) activity	IEA
GO:0004739	Function	Pyruvate dehydrogenase (acetyl-transferring) activity	TAS	2249846
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005730	Component	Nucleolus	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	NAS	24534072
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006006	Process	Glucose metabolic process	IEA
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	IBA
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	IC	16436377
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	IEA
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	ISS
GO:0006099	Process	Tricarboxylic acid cycle	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016624	Function	Oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor	IEA
GO:0045254	Component	Pyruvate dehydrogenase complex	IEA
GO:0045254	Component	Pyruvate dehydrogenase complex	ISS
GO:0046872	Function	Metal ion binding	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

• Tissue specificity: TISSUE SPECIFICITY: Testis. Expressed in postmeiotic spermatogenic cells. {ECO:0000269|PubMed:22750801}.
• Sequence:

  MLAAFISRVLRRVAQKSARRVLVASRNSSNDATFEIKKCDLYLLEEGPPVTTVLTRAEGL
  KYYRMMLTVRRMELKADQLYKQKFIRGFCHLCDGQEACCVGLEAGINPSDHVITSYRAHG
  VCYTRGLSVRSILAELTGRRGGCAKGKGGSMHMYTKNFYGGNGIVGAQGPLGAGIALACK
  YKGNDEICLTLYGDGAANQGQIAEAFNMAALWKLPCVFICENNLYGMGTSTERAAASPDY
  YKRGNFIPGLKVDGMDVLCVREATKFAANYCRSGKGPILMELQTYRYHGHSMSDPGVSYR
  TREEIQEVRSKRDPIIILQDRMVNSKLATVEELKEIGAEVRKEIDDAAQFATTDPEPHLE
  ELGHHIYSSDSSFEVRGANPWIKFKSVS

• Sequence length: 388

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Azoospermia	Pathogenic	rs200969445	RCV001797092
Oligosynaptic infertility	Pathogenic	rs200969445	RCV000523769
Spermatogenic failure 70	Pathogenic	rs200969445	RCV002221240

Associations from Text Mining
Disease Name	Relationship Type	References
Azoospermia	Associate	35172124
digital ulcers	Associate	29581481
Infertility Male	Associate	29581481
Mitochondrial Diseases	Associate	33615715
Renal Insufficiency	Associate	33615715