PDHA2 - pyruvate dehydrogenase E1 subunit alpha 2 Gene

Also Known as PDHAL; SPGF70

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5161

About PDHA2

Cytogenetic location: 4q22.3 Genomic coordinates (GRCh38): 4:95,840,093-95,841,464 (from NCBI)

This gene has 1 transcript (splice variant), 260 orthologues, 2 paralogues and is associated with 1 phenotype.

Summary

Enables pyruvate dehydrogenase (acetyl-transferring) activity. Involved in pyruvate metabolic process. Located in mitochondrion and nucleolus. [provided by Alliance of Genome Resources, Apr 2022]

PDHA2 Products (1)

mRNA Protein Name
NM_005390.5 NP_005381.1 pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial precursor

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables pyruvate dehydrogenase (NAD+) activity IDA
IDA: Inferred from direct assay
16436377 GOA
enables pyruvate dehydrogenase (acetyl-transferring) activity IDA
IDA: Inferred from direct assay
16436377 GOA
Biological Process GO Annotation Evidence References Source
involved in pyruvate metabolic process IDA
IDA: Inferred from direct assay
16436377 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PDHA2 Protein Structure

E1_dh

E1_dh: Dehydrogenase E1 component (65 - 359)

  • 0
  • 100
  • 200
  • 300
  • 388 a.a.
Protein Preferred Names Protein Names

pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial

  • PDHE1-A type II

PDHA2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PDHA2 P29803 MEOX2 Homo sapiens Q6FHY5
Y2H Array
32296183
Intra
PDHA2 P29803 MEOX2 Homo sapiens Q6FHY5
Y2H Prey Pooling
32296183
Intra
PDHA2 P29803 MEOX2 Homo sapiens Q6FHY5
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Spermatogenic Failure 70

  • SPGF70
Spermatogenic Failure 1

  • Oligosynaptic Infertility

  • SPGF1

  • Oligochiasmatic Infertility

  • Oligochiasmic Infertility
Spermatogenic Failure

  • Azoospermia

  • Spgf

  • Spermatogenic Failure, Susceptibility To

  • Absent Sperm

  • Aspermatogenesis

  • Infertility Due To Azoospermia

  • Hypospermatogenesis

  • Azoospermatism
Chorea Gravidarum
Pyruvate Dehydrogenase E1-Alpha Deficiency

  • Pyruvate Dehydrogenase Deficiency

  • Pyruvate Dehydrogenase Complex Deficiency

  • Pyruvate Decarboxylase Deficiency

  • Pdh Deficiency

  • PDHAD

  • Pyruvate Dehydrogenase Complex Deficiency Disease

  • Ataxia With Lactic Acidosis I

  • Ataxia With Lactic Acidosis 1

  • Pdh

  • Pdhc

  • Ataxia With Lactic Acidosis

  • Ataxia, Intermittent, With Abnormal Pyruvate Metabolism

  • Ataxia, Intermittent, With Pyruvate Dehydrogenase Deficiency

  • Deficiency Of Pyruvic Dehydrogenase

  • Ataxia, Intermittent, With Pyruvate Dehydrogenase, Or Decarboxylase, Deficiency

  • Pdc Deficiency

  • Intermittent Ataxia With Pyruvate Dehydrogenase Deficiency

  • Pdhc Deficiency

  • Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency

  • Ataxia Intermittent With Abnormal Pyruvate Metabolism

  • Ataxia Intermittent With Pyruvate Dehydrogenase Or Decarboxylase Deficiency

  • Pyruvate Dehydrogenase E1 Alpha Deficiency

  • Pdc - [Pyruvate Dehydrogenase Complex] Deficiency

  • Ataxia With Lactic Acidosis 2
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS10262 PDHA2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus PDHA2 RGD RGD:620095
Macaca mulatta PDHA2 VGNC VGNC:100260
Bos taurus PDHA2 VGNC VGNC:107249
Felis catus PDHA2 VGNC VGNC:78546
Mus musculus PDHA2 MGD MGI:97533
Others PDHA2 NCBI