PIEZO2 (piezo type mechanosensitive ion channel component 2)

2014-11-01  

Identity

HGNC
PIEZO2
LOCATION
18p11.22
LOCUSID
63895
ALIAS
C18orf30,C18orf58,DA3,DA5,DAIPT,FAM38B,FAM38B2,HsT748,HsT771,MWKS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 63895
MIM: 613629
HGNC: 26270
Ensembl: ENSG00000154864

Variants:

dbSNP: 63895
ClinVar: 63895
TCGA: ENSG00000154864
COSMIC: PIEZO2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000154864ENST00000302079Q9H5I5
ENSG00000154864ENST00000383408E7EVM7
ENSG00000154864ENST00000503781Q9H5I5
ENSG00000154864ENST00000579112J3QLJ9
ENSG00000154864ENST00000579949V9GZ18
ENSG00000154864ENST00000580640Q9H5I5
ENSG00000154864ENST00000581680A0A2R8YG64
ENSG00000154864ENST00000582913J3KRQ5
ENSG00000154864ENST00000582937J3KRW1
ENSG00000154864ENST00000643712A0A2R8Y3N5

Expression (GTEx)

0
1
2
3
4
5
6
7
8
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
265515442015Piezo2 is the principal mechanotransduction channel for proprioception.84
234877822013Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis.71
277438442017Touch, Tension, and Transduction - The Function and Regulation of Piezo Ion Channels.62
229214012012Inflammatory signals enhance piezo2-mediated mechanosensitive currents.57
276533822016The Role of PIEZO2 in Human Mechanosensation.50
247264732014Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.48
250375832015Piezo channels: from structure to function.36
273928192017Mechanosensitive ion channel Piezo2 is important for enterochromaffin cell response to mechanical forces.30
292120242017Cell-Type-Specific Splicing of Piezo2 Regulates Mechanotransduction.21
276075632017Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures.20

Citation

Dessen P

PIEZO2 (piezo type mechanosensitive ion channel component 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71906/piezo2