PIEZO2 - piezo type mechanosensitive ion channel component 2 Gene

Homo sapiens

Also known as DA3; DA5; MWKS; DAIPT; FAM38B; HsT748; HsT771; FAM38B2; C18orf30; C18orf58

Gene ID: 63895 | Gene type: protein coding

About PIEZO2

Cytogenetic location: 18p11.22-p11.21 Genomic coordinates (GRCh38): 18:10,670,247-11,149,569 (from NCBI)

This gene has 21 transcripts (splice variants), 293 orthologues, 1 paralogue and is associated with 9 phenotypes. Broad expression in lung (RPKM 2.7), gall bladder (RPKM 2.6) and 20 other tissues.

Summary

The protein encoded by this gene contains more than thirty transmembrane domains and likely functions as part of mechanically-activated (MA) cation channels. These channels serve to connect mechanical forces to biological signals. The encoded protein quickly adapts MA currents in somatosensory neurons. Defects in this gene are a cause of type 5 distal arthrogryposis. Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]

PIEZO2 Products(3)

mRNA	Protein	Name
NM_001378183.1	NP_001365112.1	piezo-type mechanosensitive ion channel component 2 isoform 1
NM_001410871.1	NP_001397800.1	piezo-type mechanosensitive ion channel component 2 isoform 3
NM_022068.4	NP_071351.2	piezo-type mechanosensitive ion channel component 2 isoform 2

PIEZO2 Protein Structure

Piezo_RRas_bdg

0
500
1000
1500
2000
2500
2752 a.a.

Protein Preferred Names

Protein Names

piezo-type mechanosensitive ion channel component 2

family with sequence similarity 38, member A pseudogene

Related Diseases

Diseases

Alias

Marden-Walker Syndrome

Mws	MWKS
Connective Tissue Disorder Marden Walker Type	Marden Walker Syndrome

Arthrogryposis, Distal, Type 5

Oculomelic Amyoplasia	Distal Arthrogryposis Type 5
Distal Arthrogryposis Type Iib	DA5
Arthrogryposis With Oculomotor Limitation And Electroretinal Abnormalities	Daiib
Distal Arthrogryposis Type 2b	Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Distal Arthrogryposis With Ophthalmoplegia	Arthrogryposis- Oculomotor Limitation-Electroretinal Anomalies Syndrome
Arthrogryposis, Distal, Type Iib	Da2b
Freeman-Sheldon Syndrome Variant	Sheldon-Hall Syndrome
Arthogryposis With Oculomotor Limitation And Electroretinal Abnormalities	Arthrogryposis Ophthalmoplegia Retinopathy
Arthrogryposis, Distal, 5	Arthrogryposis, Distal, Type 2b

Arthrogryposis, Distal, Type 3

Gordon Syndrome	DA3
Distal Arthrogryposis Type 3	Arthrogryposis Multiplex Congenita, Distal, Type Iia
Camptodactyly, Cleft Palate, And Clubfoot	Camptodactyly-Cleft Palate-Clubfoot Syndrome
Distal Arthrogryposis Multiplex Congenita Type Iia	Arthrogryposis Distal Type 3
Distal Arthrogryposis Type Iia	Arthrogryposis, Distal, 3
Pseudohypoaldosteronism, Type Ii

Arthrogryposis, Distal, With Impaired Proprioception And Touch

DAIPT

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita	Arthrogryposis
Congenital Multiple Arthrogryposis	Congenital Arthromyodysplasia
Fibrous Ankylosis Of Multiple Joints	Guerin-Stern Syndrome
Guérin-Stern Syndrome	Myodystrophia Fetalis Deformans
Otto Syndrome	Rocher-Sheldon Syndrome
Rossi Syndrome	Amc
Multiple Congenital Arthrogryposis	Arthrogryposis Syndrome
Arthrogryposis, Distal	Distal Arthrogryposis Syndrome
Freeman-Sheldon Syndrome	Arthrogryposis, Distal, Type 2b
Congenital Multiplex Arthrogryposis	Amyoplasia Congenita
Congenital Amyoplasia	Amc - [Arthrogryposis Multiplex Congenita]

Pseudohypoaldosteronism, Type Iie

Pseudohypoaldosteronism Type 2e	PHA2E
Familial Hyperkalemic Hypertension	Gordon'S Syndrome
Phaii	Pseudohypoaldosteronism Type 2
Gordon Hyperkalemia-Hypertension Syndrome	Pseudohypoaldosteronism Type Ii
Chloride Shunt Syndrome	Hyperpotassemia And Hypertension Familial
Pha2	Familial Hyperpotassemia And Hypertension
Familial Hypertensive Hyperkalemia	Fhht
Hyperkalemia-Hypertension Syndrome, Gordon Type	Hypertensive Hyperkalemia
Mineralocorticoid Resistant Hyperkalemia	Spitzer-Weinstein Syndrome
Pseudohypoaldosteronism 2e	Pseudohypoaldosteronism, Type Ii
Pseudohypoaldosteronism, Type Iid	Hyperpotassemia And Hypertension, Familial

Fetal Akinesia Deformation Sequence 1

Fetal Akinesia Deformation Sequence	Fads
Fetal Akinesia Sequence	FADS1
Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia	Pena-Shokeir Syndrome Type 1
Fetal Akinesia Deformation Sequence Syndrome	Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome
Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia	Pena-Shokeir Syndrome, Type I
Foetal Akinesia Deformation Sequence Syndrome	Foetal Akinesia Sequence
Fetal Akinesia Deformation Sequence Syndrome 1	Pena-Shokeir Syndrome, Type 1
Pena Shokeir Syndrome, Type 1	Akinesia, Fetal, Deformation Sequence
Akinesia, Fetal, Deformation Sequence, Type 1	Pena-Shokeir Syndrome Type I

Exocrine Pancreatic Insufficiency

Scoliosis

Autosomal Recessive Congenital Ichthyosis

Lamellar Ichthyosis	Congenital Ichthyosiform Erythroderma
Li	Congenital Nonbullous Ichthyosiform Erythroderma
Arci	Congenital Lamellar Ichthyosis
Nonbullous Congenital Ichthyosiform Erythroderma	Cie
Congenital Non-Bullous Ichthyosiform Erythroderma	Erythrodermic Ichthyosis
Nbcie	Ncie
Non-Bullous Congenital Ichthyosiform Erythroderma	Collodion Baby
Ichthyosis, Lamellar	Non Bullous Congenital Ichthyosiform Erythroderma
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form	Ichthyosiform Erythroderma, Congenital, Nonbullous, 1
Collodion Baby Syndrome	Ichthyoses, Lamellar
Nbie	Nonbullous Ichthyosiform Erythroderma
Classic Lamellar Ichthyosis	Ichthyosiform Erythroderma Nonbullous Congenital
Ichthyosiform Erythroderma Congenital	Ichthyosis, Congenital, Autosomal Recessive
Ichthyosiform Erythroderma, Congenital	Collodion Fetus
Non-Bullous Ichthyosiform Erythroderma

Arthrogryposis, Distal, Type 2a

Freeman-Sheldon Syndrome	Craniocarpotarsal Dystrophy
Craniocarpotarsal Dysplasia	DA2A
Whistling Face-Windmill Vane Hand Syndrome	Fss
Distal Arthrogryposis Type 2a	Whistling Face Syndrome
Freeman-Burian Syndrome	Arthrogryposis Distal Type 2a
Distal Arthrogryposis, Type 2a	Fbs
Arthrogryposis, Distal, 2a

Hypotonia

Arthrogryposis, Distal, Type 5d

Distal Arthrogryposis Type 5d	DA5D
Distal Arthrogryposis Type 5 Without Ophthalmoparesis	Distal Arthrogryposis Type 5 Without Ophthalmoplegia
Arthrogryposis, Distal, 5d

Blepharophimosis

Arthrogryposis, Distal, Type 1a

Distal Arthrogryposis Type 1	Digitotalar Dysmorphism
DA1A	Da1
Amcd1	Arthrogryposis, Distal, Type 2b4
Distal Arthrogryposis Type 1a	Arthrogryposis, Distal, Type 1
Arthrogryposis Multiplex Congenita Distal Type 1	Arthrogryposis Multiplex Congenita, Distal Type 1
Arthrogryposis Multiplex Congenita, Distal, Type I	Distal Arthrogryposis Type 1b
Arthrogryposis, Distal, 1a	Amc
Arthrogryposis Multiplex Congenita	Arthrogryposis, Distal, 2b4
DA2B4	Arthrogryposis Multiplex Congenita, Distal, Type 1
Arthrogryposis

Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema

Dehydrated Hereditary Stomatocytosis	Hereditary Xerocytosis
Xerocytosis, Hereditary	Pshk1
Pseudohyperkalemia Edinburgh	Dehydrated Hereditary Stomatocytosis With Or Without Pseudohyperkalemia And/Or Perinatal Edema
DHS1	Dhs
Hereditary Desiccytosis	Dehydrated Hereditary Stomatocytosis 1
Desiccytosis, Hereditary	Pseudohyperkalemia, Familial, 1, Due To Red Cell Leak
Pseudohyperkalemia Familial 1, Due To Red Cell Leak	Desiccytosis Hereditary
Xerocytosis Hereditary	Familial Pseudohyperkalemia 1 Due To Red Cell Leak
Stomatocytosis, Dehydrated, Hereditary, With/Without Pseudohyperkalemia And/Or Perinatal Edema	Xerocytosis

Arthrogryposis, Distal, Type 1b

DA1B	Distal Arthrogryposis Type 1b
Arthrogryposis, Distal, 1b

Multiple Pterygium Syndrome, Escobar Variant

Multiple Pterygium Syndrome	Pterygium
Escobar Syndrome	EVMPS
Pterygium Syndrome	Autosomal Recessive Multiple Pterygium Syndrome
Pterygium Colli Syndrome	Pterygium Universale
Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome	Escobar Variant Multiple Pterygium Syndrome
Multiple Pterygium Syndrome, Nonlethal Type	Surfer'S Eye
Multiple Pterygium Syndrome Escobar Type	Multiple Pterygium Syndrome Nonlethal Type
Familial Pterygium Syndrome	Pterygium Colli
Multiple Pterygium Syndrome, Non-Lethal Type	Nonlethal Type Multiple Pterygium Syndrome
Pterygium Syndrome, Multiple, Escobar Type	Pterygium Of Eye
Web Eye

Photokeratitis

Arthrogryposis, Distal, Type 2b3

DA2B3	Distal Arthrogryposis Type 2b3
Arthrogryposis, Distal, 2b3

Ptosis

Blepharoptosis	Drooping Eyelid
Droopy Eyelid	Ptosis Of Eyelid
Paralysis Of Levator Palpebrae Superioris

Ehlers-Danlos Syndrome

Eds	Cutis Hyperelastica
Elastic Skin	Ehlers-Danlos Syndromes
Ed Syndrome	Ehlers Danlos Syndrome
Ehlers Danlos Disease	Eds - [Ehlers-Danlos Syndrome]

Strabismus

Strabismus, Susceptibility To	Strabismus, Susceptibility To, 1
Strabismus 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-131018	Jedi2		99.84%	Unkown
HY-P1410C	D-GsMTx4 TFA	Inhibitor	99.43%	Unkown
HY-P1410B	D-GsMTx4	Inhibitor	/	Unkown
HY-RS10484	PIEZO2 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PIEZO2	VGNC	VGNC:44529
Rattus norvegicus	PIEZO2	RGD	RGD:1582973
Felis catus	PIEZO2	VGNC	VGNC:80462
Mus musculus	PIEZO2	MGD	MGI:1918781
Bos taurus	PIEZO2	VGNC	VGNC:32865

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