PDIA6 (protein disulfide isomerase family A member 6)

2012-10-01  

Identity

HGNC
PDIA6
LOCATION
2p25.1
LOCUSID
10130
ALIAS
ERP5,P5,TXNDC7
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10130
MIM: 611099
HGNC: 30168
Ensembl: ENSG00000143870

Variants:

dbSNP: 10130
ClinVar: 10130
TCGA: ENSG00000143870
COSMIC: PDIA6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000143870ENST00000272227Q15084
ENSG00000143870ENST00000272227A0A384NPU5
ENSG00000143870ENST00000381611Q15084
ENSG00000143870ENST00000404371Q15084
ENSG00000143870ENST00000404824Q15084
ENSG00000143870ENST00000458536C9JNG5
ENSG00000143870ENST00000540494Q15084
ENSG00000143870ENST00000617249Q15084

Expression (GTEx)

0
50
100
150
200
250
300
350
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
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141
Metabolism of proteinsREACTOMER-HSA-392499
Unfolded Protein Response (UPR)REACTOMER-HSA-381119
IRE1alpha activates chaperonesREACTOMER-HSA-381070
XBP1(S) activates chaperone genesREACTOMER-HSA-381038

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
384418552024The SOX2/PDIA6 axis mediates aerobic glycolysis to promote stemness in non-small cell lung cancer cells.0
384418552024The SOX2/PDIA6 axis mediates aerobic glycolysis to promote stemness in non-small cell lung cancer cells.0
362449462023Downregulated miR-181a alleviates H(2)O(2)-induced oxidative stress and cellular senescence by targeting PDIA6 in human foreskin fibroblasts.1
380975642023PDIA6, which is regulated by TRPM2-AS/miR-424-5p axis, promotes endometrial cancer progression via TGF-beta pathway.0
362449462023Downregulated miR-181a alleviates H(2)O(2)-induced oxidative stress and cellular senescence by targeting PDIA6 in human foreskin fibroblasts.1
380975642023PDIA6, which is regulated by TRPM2-AS/miR-424-5p axis, promotes endometrial cancer progression via TGF-beta pathway.0
358489242022Melanoma RBPome identification reveals PDIA6 as an unconventional RNA-binding protein involved in metastasis.5
358489242022Melanoma RBPome identification reveals PDIA6 as an unconventional RNA-binding protein involved in metastasis.5
334959922021Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes.7
337619402021PDIA6 contributes to aerobic glycolysis and cancer progression in oral squamous cell carcinoma.11
343253422021PDIA6 promotes pancreatic cancer progression and immune escape through CSN5-mediated deubiquitination of β-catenin and PD-L1.16
347818232021Protein disulfide isomerase family 6 promotes the imatinib-resistance of renal cell carcinoma by regulation of Wnt3a-Frizzled1 axis.1
334959922021Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes.7
337619402021PDIA6 contributes to aerobic glycolysis and cancer progression in oral squamous cell carcinoma.11
343253422021PDIA6 promotes pancreatic cancer progression and immune escape through CSN5-mediated deubiquitination of β-catenin and PD-L1.16

Citation

Dessen P

PDIA6 (protein disulfide isomerase family A member 6)

Atlas Genet Cytogenet Oncol Haematol. 2012-10-01

Online version: http://atlasgeneticsoncology.org/gene/52908/tumors-explorer/css/lib/dataTables.bootstrap.min.css