PDHA2 - pyruvate dehydrogenase E1 subunit alpha 2 Gene

Homo sapiens

Also known as PDHAL; SPGF70

Gene ID: 5161 | Gene type: protein coding

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	Reference	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	Reference	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

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10262	PDHA2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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