PIEZO2 Chromosome 18
Piezo type mechanosensitive ion channel component 2
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What This Gene Does
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]
Gene Info
Gene Group
"Armadillo like helical domain containing|MicroRNA protein coding host genes|Piezo type mechanosensitive ion channel components"
Locus Type
gene with protein product
Location
18p11.22-p11.21
Ensembl
ENSG00000154864
Associated Conditions (25)
Inborn genetic diseases
PIEZO2-related disorder
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
Arthrogryposis
distal
with impaired proprioception and touch
Gordon syndrome
Marden-Walker syndrome
Cerebral palsy
autosomal recessive PIEZO2 associated disease
Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1
Congenital ichthyosiform erythroderma
Exocrine pancreatic insufficiency
Scoliosis
Failure to thrive
Hypotonia
Heterotaxy
visceral
4
+5 more conditions
Key Variants
RS1021262669
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1025310776
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1027090051
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS114649884
Conflicting classifications of pathogenicity
PIEZO2-related disorder, Inborn genetic diseases, PIEZO2-related disorder
Health Risk
RS115526553
Conflicting classifications of pathogenicity
PIEZO2-related disorder, PIEZO2-related disorder
Health Risk
RS138499457
Conflicting classifications of pathogenicity
Health Risk
RS142351929
Conflicting classifications of pathogenicity
Inborn genetic diseases, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, Arthrogryposis
Health Risk
RS143388122
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1462312043
Conflicting classifications of pathogenicity
Arthrogryposis, distal, with impaired proprioception and touch
Health Risk
RS146745925
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147641839
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147666072
Conflicting classifications of pathogenicity
Arthrogryposis, distal, with impaired proprioception and touch
Health Risk
All Variants (158)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS886039824 | Health Risk | Pathogenic | Arthrogryposis, distal, with impaired proprioception and touch |
| RS1555639568 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2510489205 | Health Risk | Pathogenic/Likely pathogenic | Arthrogryposis, distal, with impaired proprioception and touch |
| RS587777451 | Health Risk | Pathogenic/Likely pathogenic | Marden-Walker syndrome, Gordon syndrome, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome |
| RS587777453 | Health Risk | Pathogenic/Likely pathogenic | Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, Inborn genetic diseases, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome |
| RS886039821 | Health Risk | Pathogenic/Likely pathogenic | Arthrogryposis, distal, with impaired proprioception and touch |
| RS886039822 | Health Risk | Pathogenic/Likely pathogenic | Arthrogryposis, distal, with impaired proprioception and touch |
| RS978512526 | Health Risk | Pathogenic/Likely pathogenic | PIEZO2-related disorder, PIEZO2-related disorder |