PDHA2

Protein identityUniProt · HPA

UniProt accession

P29803

Gene

PDHA2

Ensembl

ENSG00000163114

Chromosome

4

Canonical length

388 aa

Protein class

Citric acid cycle related proteins, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Mitochondria

OverviewNCBI Gene

Enables pyruvate dehydrogenase (NAD+) activity and pyruvate dehydrogenase (acetyl-transferring) activity. Predicted to be involved in pyruvate decarboxylation to acetyl-CoA. Located in mitochondrion and nucleolus. Implicated in spermatogenic failure 70. [provided by Alliance of Genome Resources, Apr 2025]

Canonical amino-acid sequenceUniProt

388 residues, UniProt reviewed canonical sequence.

>P29803|PDHA2
     1  MLAAFISRVL RRVAQKSARR VLVASRNSSN DATFEIKKCD LYLLEEGPPV TTVLTRAEGL
    61  KYYRMMLTVR RMELKADQLY KQKFIRGFCH LCDGQEACCV GLEAGINPSD HVITSYRAHG
   121  VCYTRGLSVR SILAELTGRR GGCAKGKGGS MHMYTKNFYG GNGIVGAQGP LGAGIALACK
   181  YKGNDEICLT LYGDGAANQG QIAEAFNMAA LWKLPCVFIC ENNLYGMGTS TERAAASPDY
   241  YKRGNFIPGL KVDGMDVLCV REATKFAANY CRSGKGPILM ELQTYRYHGH SMSDPGVSYR
   301  TREEIQEVRS KRDPIIILQD RMVNSKLATV EELKEIGAEV RKEIDDAAQF ATTDPEPHLE
   361  ELGHHIYSSD SSFEVRGANP WIKFKSVS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PDHA2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.27

Highest tissue expression

56 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PDHA2.

Disease | AllUniProt

Conditions PDHA2 is implicated in, by any mechanism.

• Spermatogenic failure 70 (SPGF70) MIM:619828

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 62 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Oligosynaptic infertility
• Spermatogenic failure 70
• Azoospermia

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.77

gnomAD pLI

0

gnomAD missense Z

-0.26

DepMap mean gene effect

-0.03

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• glucose metabolic process
• pyruvate decarboxylation to acetyl-CoA
• tricarboxylic acid cycle

Molecular functions

• metal ion binding
• pyruvate dehydrogenase (acetyl-transferring) activity

Cellular components

• mitochondrial matrix
• mitochondrion
• nucleolus
• nucleus
• pyruvate dehydrogenase complex

Protein domainsUniProt · Pfam · InterPro

• Dehydrogenase, E1 component
• Pyruvate dehydrogenase (acetyl-transferring) E1 component, alpha subunit, subgroup y
• Thiamin diphosphate-binding fold
• Pyruvate Dehydrogenase E1 Alpha Subunit
• Dehydrogenase E1 component

KeywordsUniProt

• Carbohydrate metabolism
• Glucose metabolism
• Magnesium
• Metal-binding
• Mitochondrion
• Oxidoreductase
• Phosphoprotein
• Pyruvate
• Thiamine pyrophosphate
• Transit peptide
• Tricarboxylic acid cycle

InteractionsUniProt · HPA

Protein binding partners of PDHA2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DLAT