PDHA2 (pyruvate dehydrogenase E1 subunit alpha 2)

2003-05-01  

Identity

HGNC
PDHA2
LOCATION
4q22.3
LOCUSID
5161
ALIAS
PDHAL
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5161
MIM: 179061
HGNC: 8807
Ensembl: ENSG00000163114

Variants:

dbSNP: 5161
ClinVar: 5161
TCGA: ENSG00000163114
COSMIC: PDHA2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163114ENST00000295266P29803

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Glycolysis / GluconeogenesisKEGGko00010
Citrate cycle (TCA cycle)KEGGko00020
Pyruvate metabolismKEGGko00620
Glycolysis / GluconeogenesisKEGGhsa00010
Citrate cycle (TCA cycle)KEGGhsa00020
Pyruvate metabolismKEGGhsa00620
Metabolic pathwaysKEGGhsa01100
Pyruvate oxidation, pyruvate => acetyl-CoAKEGGhsa_M00307
Pyruvate oxidation, pyruvate => acetyl-CoAKEGGM00307
HIF-1 signaling pathwayKEGGhsa04066
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
Central carbon metabolism in cancerKEGGhsa05230
Central carbon metabolism in cancerKEGGko05230
Glucagon signaling pathwayKEGGhsa04922
Glucagon signaling pathwayKEGGko04922

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
200051412010Human testis-specific PDHA2 gene: methylation status of a CpG island in the open reading frame correlates with transcriptional activity.4
226755092012Demethylation of the coding region triggers the activation of the human testis-specific PDHA2 gene in somatic tissues.3
227508012012Pyruvate dehydrogenase complex: mRNA and protein expression patterns of E1α subunit genes in human spermatogenesis.3
302265982018miR‑21‑5p targets PDHA1 to regulate glycolysis and cancer progression in gastric cancer.3
295814812018Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility.0

Citation

Dessen P

PDHA2 (pyruvate dehydrogenase E1 subunit alpha 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/41682/pdha2