PIEZO1 (piezo type mechanosensitive ion channel component 1)

2011-09-01  

Identity

HGNC
PIEZO1
LOCATION
16q24.3
LOCUSID
9780
ALIAS
DHS,FAM38A,LMPH3,LMPHM6,Mib
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9780
MIM: 611184
HGNC: 28993
Ensembl: ENSG00000103335

Variants:

dbSNP: 9780
ClinVar: 9780
TCGA: ENSG00000103335
COSMIC: PIEZO1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000103335ENST00000301015Q92508
ENSG00000103335ENST00000327397E7EUT2
ENSG00000103335ENST00000419505H7C2J5
ENSG00000103335ENST00000466823H3BRR7
ENSG00000103335ENST00000474606H0YB49
ENSG00000103335ENST00000518793H3BSF6

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

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
225292922012Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis.125
260012742015Piezo1 links mechanical forces to red blood cell volume.107
234877762013Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1.104
236956782013Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels.103
253494162014Stretch-activated ion channel Piezo1 directs lineage choice in human neural stem cells.91
281993032017Mechanical stretch triggers rapid epithelial cell division through Piezo1.91
260012752015Chemical activation of the mechanotransduction channel Piezo1.89
234795672013Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.88
266461862015Mechanical sensitivity of Piezo1 ion channels can be tuned by cellular membrane tension.72
277973392016Endothelial cation channel PIEZO1 controls blood pressure by mediating flow-induced ATP release.72

Citation

Dessen P

PIEZO1 (piezo type mechanosensitive ion channel component 1)

Atlas Genet Cytogenet Oncol Haematol. 2011-09-01

Online version: http://atlasgeneticsoncology.org/gene/52379/piezo1