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
380627772024PDPR Gene Variants Predisposing to Papillary Thyroid Cancer.0
380627772024PDPR Gene Variants Predisposing to Papillary Thyroid Cancer.0
208088252010Novel association strategy with copy number variation for identifying new risk Loci of human diseases.14
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208088252010Novel association strategy with copy number variation for identifying new risk Loci of human diseases.14
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20

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-(pyruvate-dehydrogenase-phosphatase-regulatory-subunit)