PIEZO2 gene encodes a large protein containing 31 transmembrane domains. This protein is believed to function as part of the principal mechano-transduction cation channel and is therefore essential for the rapid adaptation of mechanically-activated currents in somatosensory neurons. It plays a key role in the detection of mechanical stimulus and is also involved in the response to said mechanical stimulus. It is hence essential for perceiving the sensations of touch and proprioception. 

Mutations in the gene are associated with the 3 overlapping autosomal dominant conditions of Marden-Walker Syndrome (MWKS), Distal Arthrogryposis Type 3 (DA3) and Distal Arthrogryposis Type 5 (DA5). PIEZO2 gene mutations have also been implicated in the autosomal recessive disorder of Distal Arthrogryposis with Impaired Proprioception and Touch (DAIPT).