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FLASH GENE

Symbol

PIEZO2

contributors: npt/shn - updated : 07-12-2016

HGNC name	piezo-type mechanosensitive ion channel component 2
HGNC id	26270

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AMCD3 arthrogryposis, multiplex congenita, distal type 3 AMCD5 arthrogryposis, multiplex congenita, distal, type 5 DAIPT arthrogryposis, distal, with impaired proprioception and touch MDWS Marden -Walker syndrome
Location	18p11.22      Physical location : -
Synonym name	family with sequence similarity 38, member B
	hypothetical protein LOC63895
	family with sequence similarity 38, member B2
	chromosome 18 open reading frame 30
	chromosome 18 open reading frame 58
	protein PIEZO2
Synonym symbol(s)	FAM38B, FLJ23403, FLJ23144, FAM38B2, C18orf30, C18orf58, HsT748, HsT771, FLJ34907 DA3, DA5, DAIPT

DNA

TYPE	functioning gene
STRUCTURE	478.52 kb     52 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

Map	pter - D18S1153 - D18S1150 - PIEZO2 - D18S53 - D18S1116 - cen

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_022068 52 - 9733 NP_071351 - 2752 - 2015 26551544

EXPRESSION

Type

widely

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       moderately Mus musculus Adult NM_001039485 Digestive intestine large intestine colon   lowly Mus musculus Adult NM_001039485   intestine small intestine     lowly Mus musculus Adult NM_001039485   stomach       lowly Mus musculus Adult NM_001039485 Nervous brain hindbrain cerebellum   lowly Mus musculus Adult NM_001039485   brain       lowly Mus musculus Adult NM_001039485   ganglia sensory ganglia dorsal root   highly Mus musculus Adult NM_001039485 Respiratory lung       highly Mus musculus Adult NM_001039485 Skin/Tegument         lowly Mus musculus Adult NM_001039485 Urinary bladder       moderately Mus musculus Adult NM_001039485   kidney       lowly Mus musculus Adult NM_001039485

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   lowly Mus musculus Adult NM_001039485

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies	ortholog to Piezo2, Mus musculus
	ortholog to Piezo2, Rattus norvegicus
	ortholog to PIEZO2, Pan troglodytes

Homologene

FAMILY

FAM38 family

CATEGORY

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	has potential roles in touch and pain sensation
	potential components of mechanically activated cation channels
	potential role in somatosensory mechanotransduction
	is the Merkel-cell mechanotransduction channel and have a physiological role in mechanosensation in mammals
	PIEZO1 and PIEZO2 encode mechanically activated cation channels that function as mechanotransducers involved in vascular system development and touch sensing, respectively
	is the major mechanotransducer of mammalian proprioceptors
	is a critical regulator of tumor angiogenesis and vascular permeability
	important mechano-gated ion channel that is involved in light touch sensitivity and inflammatory allodynia
	potential role of PIEZO2 in the mediation of visceral sensation
	is a determinant of mechanosensation
	encodes a mechanosensitive ion channel that plays a major role in light-touch mechanosensation and has recently been identified as the principal mechanotransduction channel for proprioception

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	PIEZO2-mediated mechanotransduction is regulated by static plasma membrane tension (SPMT) in primary afferent neurons
	PIEZO2 genes may play an important role in the GSK3B-mediated osteoblast apoptosis process

cell & other

REGULATION

Other

activity of the PIEZO2-dependent channel is controlled by the intracellular Ca2+ concentration and can be recorded following disruption of the sensory transduction machinery or more generally by disruption of the sensory epithelium

ASSOCIATED DISORDERS

corresponding disease(s)

AMCD3 , AMCD5 , MDWS , DAIPT

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in tumor endothelial cells

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

knockdown of Piezo2 in dorsal root ganglia neurons specifically reduced rapidly adapting mechanically activated currents