InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PIEZO2

Summary

InnateDB Protein

IDBP-959.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PIEZO2

Protein Name

piezo-type mechanosensitive ion channel component 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000303316

InnateDB Gene

IDBG-924 (PIEZO2)

Protein Structure

UniProt Annotation

Function

Component of mechanosensitive channel required for rapidly adapting mechanically activated (MA) currents in DRG neurons. {ECO:0000250}.

Subcellular Localization

Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.

Disease Associations

Arthrogryposis, distal, 5 (DA5) [MIM:108145]: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA5 features include ocular abnormalities, typically ptosis, ophthalmoplegia and/or strabismus, in addition to contractures of the skeletal muscles. Some patients have pulmonary hypertension as a result of restrictive lung disease. {ECO:0000269PubMed:23487782}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0008381	mechanically-gated ion channel activity

Biological Process

GO:0006812	cation transport
GO:0009612	response to mechanical stimulus
GO:0034220	ion transmembrane transport
GO:0050974	detection of mechanical stimulus involved in sensory perception