PYROXD2 (pyridine nucleotide-disulphide oxidoreductase domain 2)

2018-11-01  

Identity

HGNC
PYROXD2
LOCATION
10q24.2
LOCUSID
84795
ALIAS
C10orf33,FP3420,YUEF

Other Information

Locus ID:

NCBI: 84795
MIM: 617889
HGNC: 23517
Ensembl: ENSG00000119943

Variants:

dbSNP: 84795
ClinVar: 84795
TCGA: ENSG00000119943
COSMIC: PYROXD2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000119943ENST00000370575Q8N2H3

Expression (GTEx)

0
5
10
15
20
25
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

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

References

Pubmed IDYearTitleCitations
311705242019Pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2): Role in mitochondrial function.11
311705242019Pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2): Role in mitochondrial function.11
290486252017Myeloid zinc finger 1 protein is a key transcription stimulating factor of PYROXD2 promoter.3
290486252017Myeloid zinc finger 1 protein is a key transcription stimulating factor of PYROXD2 promoter.3
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.83
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.83

Citation

Dessen P

PYROXD2 (pyridine nucleotide-disulphide oxidoreductase domain 2)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/57713/haematological-explorer/gene-fusions-explorer/