Gene
PIEZO2
piezo type mechanosensitive ion channel component 2
- HGNC 26270↗(opens in a new tab)
- Ensembl gene ENSG00000154864↗(opens in a new tab)
- NCBI Gene 63895↗(opens in a new tab)
Summary
- Cytogenetic location
- 18p11.22-p11.21
- Coordinates
- Chromosome 18: 10,670,247–11,149,569 (GRCh38)
- Exons
- 56 exons across 479.3 kb
- Protein
- 2,865 amino acids
- Also known as
- FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907
- Previous symbols
- FAM38B2, C18orf30, C18orf58, FAM38B
- MANE Select transcript
- ENST00000674853.1NM_001378183.1
- Locus type
- gene with protein product
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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How PIEZO2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 10.9 kb of the gene's 479.3 kb; 8,598 of those bases code for the protein.
How a genome test reads PIEZO2
72
positions in PIEZO2 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 479.3 kb of PIEZO2, introns included, not only the 10.9 kb of exons.
Traits linked to PIEZO2
The Human Phenotype Ontology lists these as features of the rare conditions PIEZO2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of limbs
- Congenital finger flexion contractures
- Limited wrist extension
- Shallow palm line
- Dropped arches
- Fused forearm bones
- Long slender fingers
- Lower limb muscle weakness
- Permanent flexion of the finger
Show 22 more traits
- Talipes
- Absent palm lines
- Atypical position of finger
- Club foot on both sides
- Decreased arm strength
- Gap between 1st and 2nd toes
- Recurrent patellar dislocation
- Curvature of little finger
- Finger syndactyly
- Front half of foot turns inward
- Absent phalangeal crease
- Camptodactyly of toe
- Club feet
- Curvature of digit
- Dislocated hip since birth
- Inability to straighten knee
- Joint contracture of the hand
- Overlapping toe
- Short finger bones
- Single transverse palmar crease
- Ulnar deviation of the hand or of fingers of the hand
- Webbed fingers
Abnormality of the musculoskeletal system
- Distal arthrogryposis
- Hunched back
- Low muscle tone, in neonatal onset
- Rounded shoulders
- Scoliosis
- Absent/small skeletal muscles
- Arthrogryposis multiplex congenita
- Funnel chest
Show 21 more traits
- Joint stiffness
- Low muscle tone
- Muscle degeneration
- Muscular dystrophy
- Decreased muscle mass
- Permanent flexion of the finger or toe
- Pigeon chest
- Spasticity and rigidity of muscles
- Abnormal vertebral body morphology
- Limitation of joint mobility
- Abnormal formation of the hip
- Abnormality of the sternum
- Congenital contracture
- Decreased hip abduction
- Excessive inward curvature of lower spine
- Firm muscles
- Flexed joint that cannot be straightened
- Generalized decreased muscle tone
- Kyphoscoliosis
- Poor head control
- Thoracolumbar scoliosis
Abnormality of head or neck
- Cleft palate
- Dandy-Walker malformation
- Decreased facial expression
- High palate
- Little lower jaw
- Abnormally small head
- Bifid uvula
- Dimple chin
Show 19 more traits
- Expressionless face
- Narrow mouth
- Narrow opening between the eyelids
- Receding chin
- Short opening between the eyelids
- Submucous cleft hard palate
- Triangular face
- Facial asymmetry
- Eye folds
- Fixed facial expression
- High, narrow palate
- Long nose
- Long philtrum
- Myopathic facies
- Nasal tip, upturned
- Short neck
- Thin red part of the upper lip
- Wide nasal bridge
- Wider-than-typical soft spot of skull
Abnormality of the nervous system
- Absent reflexes
- Decreased reflex response
- Difficulty articulating speech
- Intellectual disability
- Motor delay
- Global developmental delay
- Specific learning disability
- Attention deficit
Show 17 more traits
- Abnormal cerebellar vermis morphology
- Absent septum pellucidum
- Agenesis of corpus callosum
- Chiari type I malformation
- Intellectual disability, mild
- Small cerebellum
- Too much cerebrospinal fluid in the brain
- Delayed ability to walk
- Epilepsy
- Inability to walk
- Inferior cerebellar vermis hypoplasia
- Poor fine motor coordination
- Primitive reflex
- Sensory ataxia
- Sensory axonal neuropathy
- Small brainstem
- Wide based walk
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). PIEZO2 gene: piezo type mechanosensitive ion channel component 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/piezo2
Dante Labs. PIEZO2 gene: piezo type mechanosensitive ion channel component 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/piezo2
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