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PIEZO2 - piezo type mechanosensitive ion channel component 2
- Synonym(s) : FLJ23144, FLJ23403, FLJ34907, HsT748, HsT771
- Previous symbols and names : 'family with sequence similarity 38, member B', C18orf30, C18orf58, Chromosome 18 open reading frame 30, Chromosome 18 open reading frame 58, FAM38B, FAM38B2, Family with sequence similarity 38, member B, chromosome 18 open reading frame 30, chromosome 18 open reading frame 58, piezo-type mechanosensitive ion channel component 2
- Type : gene with protein product
- Chromosomal location : 18p11.22-p11.21
- OMIM: 613629
- HGNC: 26270
- UniProtKB: Q9H5I5
- Genatlas: PIEZO2
- GenCC: PIEZO2
- Ensembl: ENSG00000154864
- IUPHAR-DB: 2946
- Reactome: -
- LOVD: PIEZO2
Diseases list
- Disease-causing germline mutation(s) in Gordon syndrome
ORPHA:376 
- Disease-causing germline mutation(s) in Marden-Walker syndrome
ORPHA:2461 - Disease-causing germline mutation(s) (gain of function) in Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
ORPHA:1154
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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