pyruvate dehydrogenase E1 subunit alpha 2

Summary
Gene Symbol
  • PDHA2
Organism
Homo sapiens (human)
External Links
NCBI Gene
5161
HGNC
8807
KEGG Gene ID
hsa:5161
PubChem
5161
Alliance of Genome Resources
Annotation
Keyword
  • Glucose metabolism
  • Mitochondrion
  • Oxidoreductase
  • Phosphoprotein
  • Pyruvate
  • Reference proteome
  • Thiamine pyrophosphate
  • Transit peptide
  • Tricarboxylic acid cycle
Proteins
Displaying 1 entry
UniProt Protein Name
P29803
  • PDHE1-A type II
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000163114

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K00161
Name
pyruvate dehydrogenase E1 component subunit alpha [EC:1.2.4.1]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 11 in total
DO ID Disease Name Source
DOID:0014667 disease of metabolism
DOID:0070188 spermatogenic failure 1
DOID:0111910 spermatogenic failure
DOID:12336 male infertility
DOID:13515 tuberous sclerosis
DOID:14227 azoospermia
DOID:14323 Marfan syndrome
DOID:3649 pyruvate decarboxylase deficiency
DOID:3651 pyruvate carboxylase deficiency disease
DOID:758 situs inversus
The Human Phenotype Ontology
Displaying entries 1 - 10 of 12 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000027 Azoospermia
HP:0000118 Phenotypic abnormality
HP:0000798 Oligozoospermia
HP:0000837 Increased circulating gonadotropin level
HP:0003251 Male infertility
HP:0008669 Abnormal spermatogenesis
HP:0008734 Decreased testicular size
HP:0011462 Young adult onset
HP:0011961 Non-obstructive azoospermia
Displaying all 2 entries
Disease ID Disease Name
ORPHA:399805
  • obsolete male infertility with azoospermia or oligozoospermia due to single gene mutation
OMIM:619828
  • spermatogenic failure 70

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024