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

Pathways

KEGG:

Glycolysis / Gluconeogenesis
Citrate cycle (TCA cycle)
Pyruvate metabolism
Lipoic acid metabolism
Metabolic pathways
Carbon metabolism
2-Oxocarboxylic acid metabolism
HIF-1 signaling pathway
Glucagon signaling pathway
Central carbon metabolism in cancer
Diabetic cardiomyopathy

Reactome:

Regulation of pyruvate dehydrogenase (PDH) complex
Glyoxylate metabolism and glycine degradation
Signaling by Retinoic Acid
Pyruvate metabolism

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Azoospermia	Pathogenic	rs200969445	RCV001797092	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oligosynaptic infertility	Pathogenic	rs200969445	RCV000523769	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spermatogenic failure 70	Pathogenic	rs200969445	RCV002221240	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Azoospermia	Associate	35172124	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
digital ulcers	Associate	29581481	★☆☆☆☆ Found in Text Mining only
Infertility Male	Associate	29581481	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Associate	33615715	★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Associate	33615715	★☆☆☆☆ Found in Text Mining only