PDPR (pyruvate dehydrogenase phosphatase regulatory subunit)

2014-11-01  

Identity

HGNC
PDPR
LOCATION
16q22.1
LOCUSID
55066
ALIAS
PDP3

Other Information

Locus ID:

NCBI: 55066
MIM: 617835
HGNC: 30264
Ensembl: ENSG00000090857

Variants:

dbSNP: 55066
ClinVar: 55066
TCGA: ENSG00000090857
COSMIC: PDPR

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000090857ENST00000288050Q8NCN5
ENSG00000090857ENST00000398122A8MT40
ENSG00000090857ENST00000563930H3BV59
ENSG00000090857ENST00000564563H3BRS5
ENSG00000090857ENST00000565186H3BQG3
ENSG00000090857ENST00000567046B7ZAR9
ENSG00000090857ENST00000567896H3BU60
ENSG00000090857ENST00000568530Q8NCN5
ENSG00000090857ENST00000569042H3BUH3

Expression (GTEx)

0
5
10
15
20
25
30
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
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Pyruvate metabolism and Citric Acid (TCA) cycleREACTOMER-HSA-71406
Pyruvate metabolismREACTOMER-HSA-70268
Regulation of pyruvate dehydrogenase (PDH) complexREACTOMER-HSA-204174

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
208088252010Novel association strategy with copy number variation for identifying new risk Loci of human diseases.11

Citation

Dessen P

PDPR (pyruvate dehydrogenase phosphatase regulatory subunit)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71807/pdpr