# PIEZO2

> Gene · canonical: https://sugi.bio/atlas/gene/PIEZO2/
> Atlas v1.13.0 · generated 2026-10-14T18:20:41+00:00

## Summary

**PIEZO2** (piezo type mechanosensitive ion channel component 2, HGNC:26270) is a protein-coding gene on chromosome 18p11.22-p11.21, encoding **Piezo-type mechanosensitive ion channel component 2** (Q9H5I5). Pore-forming subunit of the mechanosensitive non-specific cation Piezo channel required for rapidly adapting mechanically activated (MA) currents and has a key role in sensing touch and tactile pain.

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.

*Source: [NCBI Gene 63895](https://www.ncbi.nlm.nih.gov/gene/63895) — RefSeq curated summary.*

**At a glance**

- **Gene–disease (curated):** arthrogryposis, distal, with impaired proprioception and touch (Definitive, GenCC) — +4 more curated relationships
- **GWAS associations:** 11
- **Clinical variants (ClinVar):** 1,566 total — 60 pathogenic, 78 likely-pathogenic (top 2% of genes corpus-wide)
- **Expression (HPA):** Low tissue specificity — highest in parieto-temporal junction (white matter), temporal white matter, corpus callosum, splenium (white matter)
- **GTEx eGene:** eQTL in 15 tissues, sQTL in 5 (q < 0.05)
- **Phenotypes (HPO):** 175
- **Constraint (gnomAD):** pLI 0.00 (LoF-tolerant), LOEUF 0.56 (moderately constrained)
- **MANE Select transcript:** `NM_001378183`




## Identifiers

### Gene identifiers

| Field | Value |
| --- | --- |
| HGNC ID | HGNC:26270 |
| Approved symbol | PIEZO2 |
| Name | piezo type mechanosensitive ion channel component 2 |
| Location | 18p11.22-p11.21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907 |
| Ensembl gene | ENSG00000154864 |
| Ensembl biotype | protein_coding |
| OMIM | 613629 |
| Entrez | 63895 |

## Gene structure

### Transcript identifiers

**Ensembl transcripts: 24** — 11 protein_coding, 5 retained_intron, 4 nonsense_mediated_decay, 4 protein_coding_CDS_not_defined

**MANE Select:** `ENST00000674853`

**Transcript support level (Ensembl TSL; 1 = fully mRNA-supported):** TSL 1: 1, TSL 2: 2, TSL 3: 3, TSL 4: 2, TSL 5: 6

`ENST00000674853`, `ENST00000302079`, `ENST00000383408`, `ENST00000503781`, `ENST00000538948`, `ENST00000578145`, `ENST00000579112`, `ENST00000579151`, `ENST00000579899`, `ENST00000579949`, `ENST00000580640`, `ENST00000581680`, `ENST00000582913`, `ENST00000582937`, `ENST00000583325`, `ENST00000643712`, `ENST00000685517`, `ENST00000686869`, `ENST00000688929`, `ENST00000691469`, `ENST00000693743`, `ENST00001108831`, `ENST00001108832`, `ENST00001132632`

**RefSeq mRNA: 3** — MANE Select: `NM_001378183`
`NM_001378183`, `NM_001410871`, `NM_022068`

**CCDS:** `CCDS11850`, `CCDS92435`, `CCDS92436`

#### Canonical transcript exons

`ENST00000674853` — 56 exons

| Exon | Start | End |
| --- | --- | --- |
| ENSE00001018194 | 10857001 | 10857211 |
| ENSE00001111048 | 10855353 | 10855566 |
| ENSE00001163259 | 10807112 | 10807274 |
| ENSE00001184001 | 10797374 | 10797522 |
| ENSE00001184006 | 10800337 | 10800475 |
| ENSE00001184010 | 10803875 | 10803994 |
| ENSE00001184045 | 10759482 | 10759583 |
| ENSE00001184051 | 10759705 | 10759909 |
| ENSE00001184058 | 10760911 | 10761111 |
| ENSE00001184066 | 10762500 | 10762625 |
| ENSE00001184080 | 10762922 | 10763098 |
| ENSE00001283817 | 10801390 | 10801428 |
| ENSE00001286051 | 10770148 | 10770308 |
| ENSE00001286059 | 10773412 | 10773629 |
| ENSE00001286064 | 10774006 | 10774038 |
| ENSE00001286070 | 10780325 | 10780366 |
| ENSE00001286075 | 10784784 | 10784957 |
| ENSE00001411604 | 10794772 | 10795002 |
| ENSE00002269737 | 10911186 | 10911228 |
| ENSE00002270003 | 10787036 | 10787184 |
| ENSE00002272763 | 10979535 | 10979660 |
| ENSE00002303866 | 11066127 | 11066222 |
| ENSE00003461890 | 10715650 | 10715816 |
| ENSE00003480241 | 10704394 | 10704652 |
| ENSE00003480887 | 10701989 | 10702171 |
| ENSE00003492997 | 10791201 | 10791324 |
| ENSE00003494154 | 10697748 | 10697880 |
| ENSE00003499937 | 10696392 | 10696539 |
| ENSE00003503802 | 10705336 | 10705746 |
| ENSE00003511599 | 10741031 | 10741102 |
| ENSE00003524632 | 10672690 | 10672873 |
| ENSE00003540092 | 10789079 | 10789365 |
| ENSE00003549734 | 10681661 | 10681753 |
| ENSE00003555484 | 10736604 | 10736710 |
| ENSE00003577942 | 10714764 | 10714930 |
| ENSE00003584668 | 10675209 | 10675288 |
| ENSE00003587542 | 10680199 | 10680371 |
| ENSE00003592021 | 10718200 | 10718259 |
| ENSE00003614146 | 10871253 | 10871415 |
| ENSE00003616530 | 10696074 | 10696288 |
| ENSE00003663770 | 10682104 | 10682292 |
| ENSE00003672398 | 10677747 | 10677875 |
| ENSE00003676374 | 10698925 | 10699177 |
| ENSE00003677775 | 10731407 | 10731521 |
| ENSE00003688817 | 10689655 | 10689802 |
| ENSE00003691399 | 10691225 | 10691383 |
| ENSE00003710058 | 10742494 | 10742615 |
| ENSE00003718201 | 10757969 | 10758134 |
| ENSE00003718615 | 10750091 | 10750187 |
| ENSE00003731742 | 10748471 | 10748630 |
| ENSE00003743148 | 10752636 | 10752879 |
| ENSE00003749768 | 10744142 | 10744231 |
| ENSE00003821711 | 10708275 | 10708439 |
| ENSE00003899335 | 10735232 | 10735330 |
| ENSE00003900582 | 11148525 | 11149569 |
| ENSE00003903018 | 10670247 | 10671779 |

### Expression profiles

**Bgee:** expression breadth **ubiquitous**, 237 present calls, max score 97.57.

**FANTOM5 (CAGE):** breadth **broad**, TPM avg 3.6775 / max 108.5483, expressed in 676 samples.

**Highest expression (Bgee):** sural nerve, corpus callosum, dorsal root ganglion, visceral pleura, inferior vagus X ganglion.

#### Genetic regulation across tissues (GTEx eQTL / sQTL)

PIEZO2 is an **eGene** in GTEx v10 — its expression is genetically regulated (eQTL) in **15** tissues and its splicing (sQTL) in **5** (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant's alternative allele.

20 significant tissue × QTL associations:

| Tissue | QTL | q-value | Slope | Lead variant |
| --- | --- | --- | --- | --- |
| Cells EBV-transformed lymphocytes | eqtl | 1.2e-16 | +0.52 | 18:10947497:A:T |
| Nerve Tibial | eqtl | 2.7e-13 | -0.18 | 18:10892953:A:C |
| Pancreas | eqtl | 6.8e-09 | +0.43 | 18:11020485:C:T |
| Spleen | eqtl | 8.8e-06 | +0.78 | 18:10697494:C:T |
| Testis | sqtl | 1.5e-05 | +0.54 | 18:10701592:A:G |
| Lung | sqtl | 7.4e-04 | +0.84 | 18:10769017:C:T |
| Brain Spinal cord cervical c-1 | eqtl | 3.1e-03 | +0.93 | 18:11740200:C:G |
| Adrenal Gland | eqtl | 4.7e-03 | +0.46 | 18:11005558:A:C |
| Colon Sigmoid | eqtl | 5.3e-03 | +0.15 | 18:10923478:G:A |
| Skin Sun Exposed Lower leg | eqtl | 7.3e-03 | +0.35 | 18:10681316:A:G |
| Esophagus Mucosa | eqtl | 1.5e-02 | +0.38 | 18:10719449:G:A |
| Esophagus Muscularis | eqtl | 1.6e-02 | -0.45 | 18:10920221:T:C |
| Thyroid | eqtl | 1.7e-02 | +0.48 | 18:10685781:C:A |
| Artery Coronary | eqtl | 1.8e-02 | +1.35 | 18:10249164:A:C |
| Artery Tibial | eqtl | 1.9e-02 | +0.25 | 18:10668069:T:C |
| Spleen | sqtl | 2.3e-02 | +0.44 | 18:10993597:C:T |
| Artery Aorta | eqtl | 2.7e-02 | -0.34 | 18:11557129:A:C |
| Esophagus Mucosa | sqtl | 3.8e-02 | +0.40 | 18:11093927:C:T |
| Cells EBV-transformed lymphocytes | sqtl | 4.1e-02 | -1.10 | 18:10774538:G:T |
| Colon Transverse | eqtl | 4.9e-02 | +0.35 | 18:11178423:G:A |

#### FANTOM5 promoters

2 alternative TSS:

| Promoter ID | TPM avg | Samples expressed |
| --- | --- | --- |
| 171205 | 3.6415 | 675 |
| 171202 | 0.0360 | 10 |

#### Top tissues by expression

showing 100 of 282 tissues by Bgee expression score (0-100, higher = more expressed):

| Tissue | Anatomy ID | Expression score | Quality |
| --- | --- | --- | --- |
| sural nerve | UBERON:0015488 | 97.57 | gold quality |
| corpus callosum | UBERON:0002336 | 91.06 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 88.33 | gold quality |
| visceral pleura | UBERON:0002401 | 87.29 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 87.26 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 87.05 | gold quality |
| adrenal tissue | UBERON:0018303 | 86.45 | gold quality |
| pleura | UBERON:0000977 | 85.60 | gold quality |
| parietal pleura | UBERON:0002400 | 85.21 | gold quality |
| cranial nerve II | UBERON:0000941 | 85.13 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 84.98 | gold quality |
| calcaneal tendon | UBERON:0003701 | 84.00 | gold quality |
| spinal cord | UBERON:0002240 | 83.99 | gold quality |
| inferior olivary complex | UBERON:0002127 | 83.80 | gold quality |
| lower lobe of lung | UBERON:0008949 | 82.86 | silver quality |
| colonic epithelium | UBERON:0000397 | 82.47 | gold quality |
| lung | UBERON:0002048 | 81.07 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 81.04 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 80.31 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 80.17 | gold quality |
| globus pallidus | UBERON:0001875 | 79.92 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 79.83 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 79.47 | gold quality |
| substantia nigra | UBERON:0002038 | 79.43 | gold quality |
| medial globus pallidus | UBERON:0002477 | 79.43 | gold quality |
| upper lobe of lung | UBERON:0008948 | 79.34 | gold quality |
| midbrain | UBERON:0001891 | 78.94 | gold quality |
| cartilage tissue | UBERON:0002418 | 78.92 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 78.82 | gold quality |
| right lung | UBERON:0002167 | 78.66 | gold quality |
| tendon | UBERON:0000043 | 78.10 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 77.95 | gold quality |
| gall bladder | UBERON:0002110 | 77.76 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 77.53 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 77.28 | gold quality |
| skin of hip | UBERON:0001554 | 77.15 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 76.56 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 76.52 | silver quality |
| germinal epithelium of ovary | UBERON:0001304 | 76.44 | gold quality |
| tibial nerve | UBERON:0001323 | 75.81 | gold quality |
| olfactory bulb | UBERON:0002264 | 75.59 | silver quality |
| type B pancreatic cell | CL:0000169 | 75.48 | gold quality |
| Ammon's horn | UBERON:0001954 | 75.23 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 75.22 | gold quality |
| hair follicle | UBERON:0002073 | 74.97 | silver quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 74.82 | gold quality |
| urinary bladder | UBERON:0001255 | 74.40 | gold quality |
| medulla oblongata | UBERON:0001896 | 74.19 | gold quality |
| liver | UBERON:0002107 | 74.04 | gold quality |
| tibia | UBERON:0000979 | 73.87 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 73.80 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 73.51 | gold quality |
| bronchial epithelial cell | CL:0002328 | 73.47 | gold quality |
| right lobe of liver | UBERON:0001114 | 73.37 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 73.17 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 72.87 | gold quality |
| bronchus | UBERON:0002185 | 72.31 | gold quality |
| postcentral gyrus | UBERON:0002581 | 72.26 | gold quality |
| amygdala | UBERON:0001876 | 71.92 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 71.89 | gold quality |
| parietal lobe | UBERON:0001872 | 71.84 | gold quality |
| synovial joint | UBERON:0002217 | 71.79 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 71.77 | gold quality |
| ventral tegmental area | UBERON:0002691 | 71.64 | gold quality |
| corpus epididymis | UBERON:0004359 | 71.53 | gold quality |
| prostate gland | UBERON:0002367 | 71.46 | gold quality |
| ventricular zone | UBERON:0003053 | 71.40 | gold quality |
| prefrontal cortex | UBERON:0000451 | 71.03 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 70.85 | gold quality |
| body of pancreas | UBERON:0001150 | 70.70 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 70.63 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 70.40 | gold quality |
| buccal mucosa cell | CL:0002336 | 70.23 | gold quality |
| pons | UBERON:0000988 | 70.20 | gold quality |
| temporal lobe | UBERON:0001871 | 69.99 | gold quality |
| pancreas | UBERON:0001264 | 69.85 | gold quality |
| hypothalamus | UBERON:0001898 | 69.72 | gold quality |
| putamen | UBERON:0001874 | 69.53 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 69.50 | gold quality |
| islet of Langerhans | UBERON:0000006 | 69.13 | gold quality |
| frontal cortex | UBERON:0001870 | 69.03 | gold quality |
| frontal lobe | UBERON:0016525 | 69.03 | gold quality |
| colon | UBERON:0001155 | 68.80 | gold quality |
| upper leg skin | UBERON:0004262 | 68.42 | gold quality |
| cerebral cortex | UBERON:0000956 | 68.41 | gold quality |
| telencephalon | UBERON:0001893 | 68.34 | gold quality |
| mammary duct | UBERON:0001765 | 68.11 | gold quality |
| large intestine | UBERON:0000059 | 68.06 | gold quality |
| forebrain | UBERON:0001890 | 67.89 | gold quality |
| entorhinal cortex | UBERON:0002728 | 67.87 | gold quality |
| occipital lobe | UBERON:0002021 | 67.82 | gold quality |
| neocortex | UBERON:0001950 | 67.71 | gold quality |
| ganglionic eminence | UBERON:0004023 | 67.58 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 67.52 | gold quality |
| rectum | UBERON:0001052 | 67.51 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 67.44 | gold quality |
| vermiform appendix | UBERON:0001154 | 67.40 | gold quality |
| pylorus | UBERON:0001166 | 67.37 | gold quality |
| right frontal lobe | UBERON:0002810 | 67.17 | gold quality |
| caput epididymis | UBERON:0004358 | 67.14 | gold quality |

#### Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

| Experiment | Marker? | Max mean expression |
| --- | --- | --- |
| [E-ANND-2](https://www.ebi.ac.uk/gxa/sc/experiments/E-ANND-2) | yes | 590.48 |
| [E-CURD-119](https://www.ebi.ac.uk/gxa/sc/experiments/E-CURD-119) | yes | 11.33 |
| [E-MTAB-9067](https://www.ebi.ac.uk/gxa/sc/experiments/E-MTAB-9067) | yes | 7.32 |
| [E-ANND-3](https://www.ebi.ac.uk/gxa/sc/experiments/E-ANND-3) | yes | 7.15 |

#### HPA expression

RNA tissue specificity: **Low tissue specificity**

showing 60 of 79 HPA tissues / cells by nTPM:

| Tissue / cell | Axis | nTPM | Protein (IHC) |
| --- | --- | --- | --- |
| Nucleus accumbens | tissue | 20.1 |  |
| Locus coeruleus | tissue | 12.4 |  |
| Hippocampus | tissue | 12.2 | low |
| Postcentral gyrus | tissue | 6.8 |  |
| Lung | tissue | 5.3 | medium |
| Gallbladder | tissue | 4.4 | high |
| Choroid plexus | tissue | 4.3 |  |
| Spinal cord | tissue | 4.3 |  |
| Esophagus | tissue | 4.1 | low |
| Urinary bladder | tissue | 4.1 | medium |
| Hippocampal formation | tissue | 3.0 |  |
| Olfactory bulb | tissue | 2.5 |  |
| Seminal vesicle | tissue | 2.3 | low |
| Liver | tissue | 2.3 | not detected |
| Prostate | tissue | 2.1 | medium |
| Spleen | tissue | 2.0 | not detected |
| Smooth muscle | tissue | 1.8 | medium |
| Amygdala | tissue | 1.3 |  |
| Breast | tissue | 1.1 | high |
| Stomach 1 | tissue | 1.1 | medium |
| Thyroid gland | tissue | 1.1 | low |
| Appendix | tissue | 1.1 | medium |
| Rectum | tissue | 1.0 | medium |
| Epididymis | tissue | 1.0 | low |
| Cerebellum | tissue | 1.0 | low |
| Septum | tissue | 1.0 |  |
| Testis | tissue | 0.9 | medium |
| Medulla oblongata | tissue | 0.9 |  |
| Small intestine | tissue | 0.9 | high |
| Skin 1 | tissue | 0.8 | low |
| Adipose tissue | tissue | 0.8 | not detected |
| Hypothalamus | tissue | 0.8 |  |
| Substantia nigra | tissue | 0.8 |  |
| Kidney | tissue | 0.8 | medium |
| Fallopian tube | tissue | 0.8 | low |
| Ovary | tissue | 0.7 | medium |
| Colon | tissue | 0.7 | medium |
| Cervix | tissue | 0.6 | not detected |
| Lymph node | tissue | 0.6 | medium |
| Midbrain | tissue | 0.6 |  |
| Cerebral cortex | tissue | 0.5 | low |
| Endometrium 1 | tissue | 0.5 | low |
| Superior colliculi | tissue | 0.5 |  |
| Thymus | tissue | 0.5 |  |
| Retrosplenial cortex | tissue | 0.5 |  |
| Pituitary gland | tissue | 0.4 |  |
| Pons | tissue | 0.4 |  |
| Vagina | tissue | 0.4 | not detected |
| Motor cortex | tissue | 0.4 |  |
| Putamen | tissue | 0.4 |  |
| Thalamus | tissue | 0.4 |  |
| Tonsil | tissue | 0.4 | medium |
| Retrosplenial and cingulate cortex | tissue | 0.4 |  |
| Periaqueductal gray | tissue | 0.4 |  |
| Temporal cortex | tissue | 0.4 |  |
| Prefrontal cortex | tissue | 0.3 |  |
| Parathyroid gland | tissue | 0.3 | medium |
| Adrenal gland | tissue | 0.3 | high |
| Bone marrow | tissue | 0.3 | low |
| Entorhinal cortex | tissue | 0.3 |  |

**Brain sub-regions (HPA Brain Atlas):** detected in 192; highest nTPM — Parieto-temporal junction (white matter) (111.7), Temporal white matter (91.0), Corpus callosum, splenium (white matter) (76.0), Corpus callosum, genu (white matter) (70.1), Cerebellar white matter (64.6).

### Regulation

**Is transcription factor: no**

#### miRNA regulators (miRDB)

Targeting PIEZO2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 104 miRNAs:

| miRNA | Max score | Avg score | miRNA target_count |
| --- | --- | --- | --- |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-613 | 99.91 | 71.50 | 1710 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-380-3P | 99.89 | 70.18 | 1978 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |

### Functional genomics

**gnomAD constraint:** pLI 2.18e-15, LOEUF 0.563, missense Z 3.03 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). [gnomAD](https://gnomad.broadinstitute.org/)

#### Regional missense constraint (gnomAD)

`ENST00000674853` splits into 5 regions with different missense tolerance; **0 are missense-constrained**. Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. [gnomAD](https://gnomad.broadinstitute.org/)

| Region (GRCh38) | Missense obs / exp | o/e | Constrained |
| --- | --- | --- | --- |
| 18:10,671,530–10,682,120 | 332 / 363.8 | 0.91 | no |
| 18:10,682,121–10,696,272 | 179 / 281.8 | 0.64 | no |
| 18:10,696,273–10,794,814 | 1925 / 2051.9 | 0.94 | no |
| 18:10,794,815–10,797,396 | 50 / 88.2 | 0.57 | no |
| 18:10,797,397–11,148,588 | 542 / 605.6 | 0.89 | no |

### Literature-anchored findings (GeneRIF, showing 40)

- piezo2 sensitization may contribute to PKA- and PKC-mediated mechanical hyperalgesia. (PMID:22921401)
- Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. (PMID:23487782)
- this study used exome sequencing to discover that mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. (PMID:24726473)
- family of mechanically activated channels that counts only two members in human, piezo1 and 2, has emerged recently. [review] (PMID:25037583)
- we demonstrate that the mechanosensitivity of human embryonic stem cell-derived touch receptors depends on PIEZO2 (PMID:25469543)
- Whole-exome sequencing revealed a novel heterozygous mutation c.4456G>C (p.A1486P) of PIEZO2. (PMID:25712306)
- Transgenic mouse lines lacking Piezo2 in proprioceptive neurons showed severely uncoordinated body movements. (PMID:26551544)
- Enterochromaffin cells in the human and mouse small bowel GI epithelium selectively express the mechanosensitive ion channel Piezo2, and also that activation of Piezo2 by force leads to inward currents, 5-HT release and an increase in mucosal secretion (PMID:27392819)
- we report a consanguineous family with three siblings who showed short stature, scoliosis, gross motor impairment, and a progressive form of contractures involving the distal joints that is distinct from that found in patients with domina Recessive mutations in PIEZO2 thus appear to cause a progressive phenotype that overlaps with, while being mostly distinct from that associated with dominant mutations in the same gene (PMID:27607563)
- Our results show that PIEZO2 is a determinant of mechanosensation in humans. (PMID:27653382)
- we report the developmental phenotypic spectrum of familial Gordon syndrome in one family due to the previously characterized PIEZO2 mutation c.8057G>A. (PMID:27714920)
- The Piezo2 convert a variety of mechanical stimuli into channel activation and subsequent inactivation, and what molecules and mechanisms modulate Piezo function. (PMID:27743844)
- We identified homozygous loss of function variants in PIEZO2 as the underlying cause for an autosomal-recessive distal muscular atrophy with arthrogryposis, kyphoscoliosis, and neonatal respiratory insufficiency distinct from previously described dominant PIEZO2 diseases. (PMID:27843126)
- Sensory ataxia and proprioception defect with dorsal column involvement together with arthrogryposis, myopathy, scoliosis and progressive respiratory failure may represent a distinct clinical phenotype, and indicate recessive mutations in PIEZO2 (PMID:27974811)
- The present results demonstrate the occurrence of Piezo2 in cutaneous sensory nerve formations that functionally work as slowly adapting (Merkel cells) and rapidly adapting (Meissner's corpuscles) low-threshold mechanoreceptors and are related to fine and discriminative touch but not to vibration or hard touch (PMID:28905996)
- Study demonstrate the splicing of Piezo2 to be cell type specific. Biophysical characterization revealed substantial differences in ion permeability, sensitivity to calcium modulation, and inactivation kinetics among Piezo2 splice variants. (PMID:29212024)
- This study identified Piezo2 mechanosensitive cationic channel as a transducer of environmental physical cues into mechanobiological responses. (PMID:29432180)
- The molecular defects identified through clinical exome sequencing in this study expands the phenotypic spectra of CHD7-associated disorders and implicate PIEZO2 as a candidate gene for major eye developmental defects. (PMID:30181649)
- Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families. (PMID:30285720)
- individuals with loss-of-function mutations in PIEZO2 completely failed to develop sensitization and painful reactions to touch after skin inflammation. (PMID:30305456)
- the presence of both Piezo1 and 2 in enteric neurons throughout the gastrointestinal tract from guinea pigs, mice and humans, were studied. (PMID:30324494)
- identify a functionally conserved inactivation gate in the pore-lining inner helix of mouse Piezo1 and Piezo2 that is distinct from the two constrictions (PMID:30628892)
- Results indicate the critical prognostic values of the piezo type mechanosensitive ion channel components PIEZO1 and PIEZO2 in non-small cell lung cancer (NSCLC). (PMID:30745454)
- we present a 3-generation family affected with DA5, who all carry a variant of unknown clinical significance c.8068A>C (p.Ser2690Arg) in the PIEZO2 gene. DA5 is a very rare condition with less than 20 cases previously reported. Our report expands the phenotype and contributes to evidence of this variant's pathogenicity. (PMID:30938034)
- The Piezo2 ion channel is mechanically activated by low-threshold positive pressure. (PMID:31015490)
- Studied role of piezo type mechanosensitive ion channel component 2 (PIEZO2) expression in development of adolescent idiopathic scoliosis. (PMID:31513102)
- A neuromuscular disorder with homozygosity for PIEZO2 gene variants: an important differential diagnosis for kyphoscoliotic Ehlers-Danlos Syndrome. (PMID:31609726)
- A dietary fatty acid counteracts neuronal mechanical sensitization. (PMID:32561714)
- Glans clitoris innervation: PIEZO2 and sexual mechanosensitivity. (PMID:32996126)
- PIEZO2 in sensory neurons and urothelial cells coordinates urination. (PMID:33057202)
- Confirming the involvement of PIEZO2 in the etiology of Marden-Walker syndrome. (PMID:33369052)
- The Form and Function of PIEZO2. (PMID:34153212)
- Piezo2 downregulation via the Cre-lox system affects aqueous humor dynamics in mice. (PMID:34220183)
- Molecular Sensors of Temperature, Pressure, and Pain with Special Focus on TRPV1, TRPM8, and PIEZO2 Ion Channels. (PMID:34825354)
- Is the Sex Difference a Clue to the Pathomechanism of Dry Eye Disease? Watch out for the NGF-TrkA-Piezo2 Signaling Axis and the Piezo2 Channelopathy. (PMID:35507012)
- Piezo2 is not an indispensable mechanosensor in murine cardiomyocytes. (PMID:35581325)
- PIEZO2 ion channels in proprioception. (PMID:35689908)
- Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene. (PMID:35906671)
- Loss of lung microvascular endothelial Piezo2 expression impairs NO synthesis, induces EndMT, and is associated with pulmonary hypertension. (PMID:36149769)
- The role of PIEZO ion channels in the musculoskeletal system. (PMID:36717101)

### Cross-species orthologs

**7 orthologs**

| Organism | Symbol | Gene ID |
| --- | --- | --- |
| danio_rerio | piezo2a | ENSDARG00000076005 |
| danio_rerio |  | ENSDARG00000107086 |
| danio_rerio | piezo2b | ENSDARG00000112723 |
| mus_musculus | Piezo2 | ENSMUSG00000041482 |
| rattus_norvegicus | Piezo2 | ENSRNOG00000038784 |
| drosophila_melanogaster | Piezo | FBGN0264953 |
| caenorhabditis_elegans |  | WBGENE00007505 |

**Paralogs (1):** PIEZO1 (ENSG00000103335)

#### Mouse-model phenotypes

Observed phenotypes of the mouse ortholog ([MGI:1918781](https://www.informatics.jax.org/marker/MGI:1918781)) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 4 distinct phenotype terms.

| Mouse phenotype (MP) | Records |
| --- | --- |
| increased circulating triglyceride level | 1 |
| abnormal embryo size | 1 |
| increased vertical activity | 1 |
| preweaning lethality, complete penetrance | 1 |

### Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

| Symbol | Type | Entrez |
| --- | --- | --- |
| [MIR6788](/atlas/gene/MIR6788/) | ncRNA | 102466735 |
| [LINC01928](/atlas/gene/LINC01928/) | ncRNA | 105371994 |
| [LINC01887](/atlas/gene/LINC01887/) | ncRNA | 102724470 |

<a id="protein-Q9H5I5"></a>

## Protein

### Protein identifiers

**Piezo-type mechanosensitive ion channel component 2** — `Q9H5I5` (reviewed: Q9H5I5)

**Alternative names:** Protein FAM38B

**All UniProt accessions (10):** `A0A2H4UKA7`, `A0A2R8Y3N5`, `A0A2R8YG64`, `A0A8I5KT39`, `E7EVM7`, `J3KRQ5`, `J3KRW1`, `J3QLJ9`, `Q9H5I5`, `V9GZ18`

#### UniProt curated annotations — [full annotation on UniProt →](https://www.uniprot.org/uniprotkb/Q9H5I5/entry)

**Function.** Pore-forming subunit of the mechanosensitive non-specific cation Piezo channel required for rapidly adapting mechanically activated (MA) currents and has a key role in sensing touch and tactile pain. Piezo channels are homotrimeric three-blade propeller-shaped structures that utilize a cap-motion and plug-and-latch mechanism to gate their ion-conducting pathways. Expressed in sensory neurons, is essential for diverse physiological processes, including respiratory control, systemic metabolism, urinary function, and proprioception. Mediates airway stretch sensing, enabling efficient respiration at birth and maintaining normal breathing in adults. It regulates brown and beige adipose tissue morphology and function, preventing systemic hypermetabolism. In the lower urinary tract, acts as a sensor in both the bladder urothelium and innervating sensory neurons being required for bladder-stretch sensing and urethral micturition reflexes, ensuring proper urinary function. Additionally, PIEZO2 serves as the principal mechanotransducer in proprioceptors, facilitating proprioception and coordinated body movements. In inner ear hair cells, PIEZO1/2 subunits may constitute part of the mechanotransducer (MET) non-selective cation channel complex where they may act as pore-forming ion-conducting component in the complex. Required for Merkel-cell mechanotransduction. Plays a major role in light-touch mechanosensation. In kidney, during blood volume challenges, regulates calcium dynamics and maintains renin production, thereby serving as an essential regulator of the renin-angiotensin-aldosterone system (RAAS) and systemic blood volume control.

**Subunit / interactions.** Homotrimer; the homotrimer forms a propeller-shaped Piezo channel with a cation-ion conducting pore. Heterotrimeric interaction may occur between PIEZO1 and PIEZO2. Interacts with STOML3. Interacts with TMC7; the interaction inhibits PIEZO2-conducted mechanically activated currents. Interacts with TMC1; the interaction may be part of the MET complex. Interacts with MDFIC (via C-terminus); the interaction prolongs Piezo channel inactivation. Interacts with MDFI (via C-terminus); the interaction prolongs Piezo channel inactivation.

**Subcellular location.** Cell membrane.

**Disease relevance.** Arthrogryposis, distal, 5 (DA5) [MIM:108145] A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA5 features include ocular abnormalities, typically ptosis, ophthalmoplegia and/or strabismus, in addition to contractures of the skeletal muscles. Some patients have pulmonary hypertension as a result of restrictive lung disease. The disease is caused by variants affecting the gene represented in this entry. Arthrogryposis, distal, 3 (DA3) [MIM:114300] A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA3 features include short stature and cleft palate. The disease is caused by variants affecting the gene represented in this entry. Marden-Walker syndrome (MWKS) [MIM:248700] A syndrome characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, kyphoscoliosis, pectus excavatum or carinatum, and arachnodactyly. Additional features include decreased muscular mass, failure to thrive, renal anomalies, hypoplastic corpus callosum, cerebellar vermis hypoplasia, enlarged cisterna magna, and psychomotor retardation. The disease is caused by variants affecting the gene represented in this entry. Arthrogryposis, distal, with impaired proprioception and touch (DAIPT) [MIM:617146] A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DAIPT is an autosomal recessive disease characterized by selective loss of discriminative touch perception, ataxia, difficulty walking, dysmetria, and progressive skeletal contractures. The disease is caused by variants affecting the gene represented in this entry.

**Activity regulation.** Regulated by auxillary subunits MDFIC and MDFI. Channel activity is inhibited by TMEM120A. Phosphatidic acid and lysophosphatidic acid inhibit PIEZO2 channel activity.

**Miscellaneous.** Piezo comes from the Greek 'piesi' meaning pressure.

**Similarity.** Belongs to the PIEZO (TC 1.A.75) family.

#### Isoforms (4)

| UniProt ID | Names | Canonical? |
| --- | --- | --- |
| Q9H5I5-1 | 1 | yes |
| Q9H5I5-2 | 2 |  |
| Q9H5I5-3 | 3 |  |
| Q9H5I5-4 | 4 |  |

**RefSeq proteins (3):** `NP_001365112`*, `NP_001397800`, `NP_071351`  (*=MANE)

#### Domains & families (InterPro)

| ID | Name | Type |
| --- | --- | --- |
| IPR027272 | Piezo | Family |
| IPR031334 | Piezo_cap_dom | Domain |
| IPR031805 | Piezo_TM25-28 | Domain |
| IPR056768 | THU_Piezo | Domain |
| IPR056769 | Piezo_TM1-24 | Domain |
| IPR056770 | Piezo_THU9_anchor | Domain |

**Pfam:** `PF12166`, `PF15917`, `PF23188`, `PF24871`, `PF24874`

#### Catalyzed reactions (Rhea)

- Ca(2+)(in) = Ca(2+)(out) *(RHEA:29671)*

**UniProt features (117 total):** topological domain 39, transmembrane region 38, sequence variant 11, region of interest 8, compositionally biased region 7, sequence conflict 5, splice variant 3, glycosylation site 2, chain 1, coiled-coil region 1, modified residue 1, disulfide bond 1

### Structure

#### Experimental structures (PDB)

2 structures by resolution:

| PDB | Title | Method | Resolution (Å) |
| --- | --- | --- | --- |
| 9VEE | The cryo-EM structure of human Piezo2-MDFIC2 complex (composite map) | ELECTRON MICROSCOPY | 3.36 |
| 9VEF | The cryo-EM structure of human Piezo2-MDFIC complex (composite map) | ELECTRON MICROSCOPY | 3.75 |

#### Predicted structure (AlphaFold)

*No AlphaFold model available for Q9H5I5 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.*

### Human Protein Atlas

**Protein class:** Transporters, Transporter channels and pores, Predicted membrane proteins, Predicted intracellular proteins, Disease related genes, Potential drug targets, Human disease related genes, Congenital malformations, Other congenital malformations

**Protein evidence:** Evidence at protein level

**Subcellular location (HPA, imaging):** plasma membrane; cytosol; vesicles

**Antibody reliability (HPA):** IH approved · IF approved

### Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. *Source: UniProtKB sequence features.*

#### Post-translational modifications (1)

| Type | Positions |
| --- | --- |
| Phosphoserine | 838 |

#### Disulfide bonds (1)

| Type | Positions |
| --- | --- |
| Disulfide bond | 1014–1192 |

#### Glycosylation sites (2)

| Type | Positions |
| --- | --- |
| N-linked (glcnac...) asparagine | 95, 1013 |

## Function

### Pathways and Gene Ontology

#### Reactome pathways

**0 curated (TAS)** of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

**MSigDB gene sets: 491** (showing top):
`VALK_AML_WITH_FLT3_ITD`, `GSE45365_NK_CELL_VS_CD8A_DC_DN`, `GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS`, `GOBP_CELLULAR_RESPONSE_TO_EXTERNAL_STIMULUS`, `GOBP_DETECTION_OF_MECHANICAL_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION`, `GOBP_MONOATOMIC_CATION_TRANSPORT`, `PATIL_LIVER_CANCER`, `GOBP_DETECTION_OF_MECHANICAL_STIMULUS`, `SMID_BREAST_CANCER_LUMINAL_B_UP`, `RIGGI_EWING_SARCOMA_PROGENITOR_DN`, `HNF4_DR1_Q3`, `GOBP_RESPONSE_TO_ABIOTIC_STIMULUS`, `GOBP_DETECTION_OF_ABIOTIC_STIMULUS`, `CAIRO_HEPATOBLASTOMA_UP`, `GOBP_DETECTION_OF_STIMULUS`

**GO Biological Process (10):**
monoatomic cation transport (GO:0006812), response to mechanical stimulus (GO:0009612), regulation of membrane potential (GO:0042391), detection of mechanical stimulus involved in sensory perception (GO:0050974), detection of mechanical stimulus (GO:0050982), cellular response to mechanical stimulus (GO:0071260), detection of renal blood flow (GO:0002000), monoatomic ion transport (GO:0006811), monoatomic ion transmembrane transport (GO:0034220), monoatomic cation transmembrane transport (GO:0098655)

**GO Molecular Function (3):**
monoatomic cation channel activity (GO:0005261), mechanosensitive monoatomic ion channel activity (GO:0008381), mechanosensitive monoatomic cation channel activity (GO:0140135)

**GO Cellular Component (5):**
plasma membrane (GO:0005886), stereocilium (GO:0032420), cuticular plate (GO:0032437), neuronal cell body membrane (GO:0032809), membrane (GO:0016020)

#### GO top-level categories

32 GO namespaces:

| Category | Terms |
| --- | --- |
| monoatomic ion transport | 2 |
| monoatomic ion transmembrane transport | 2 |
| detection of mechanical stimulus | 2 |
| response to mechanical stimulus | 2 |
| monoatomic ion channel activity | 2 |
| cellular anatomical structure | 2 |
| response to external stimulus | 1 |
| response to abiotic stimulus | 1 |
| regulation of biological quality | 1 |
| sensory perception | 1 |
| detection of stimulus involved in sensory perception | 1 |
| sensory perception of mechanical stimulus | 1 |
| detection of external stimulus | 1 |
| detection of abiotic stimulus | 1 |
| cellular response to abiotic stimulus | 1 |
| cellular response to external stimulus | 1 |
| renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure | 1 |
| transport | 1 |
| transmembrane transport | 1 |
| monoatomic cation transport | 1 |
| monoatomic cation transmembrane transporter activity | 1 |
| gated channel activity | 1 |
| monoatomic cation channel activity | 1 |
| mechanosensitive monoatomic ion channel activity | 1 |
| membrane | 1 |
| cell periphery | 1 |
| stereocilium bundle | 1 |
| neuron projection | 1 |
| actin-based cell projection | 1 |
| cortical actin cytoskeleton | 1 |
| neuronal cell body | 1 |
| cell body membrane | 1 |

### Protein interactions and networks

#### STRING

showing 15 of 1,611 interactions by confidence (×1000):

| Protein A | Protein B | Partner UniProt | Score |
| --- | --- | --- | --- |
| PIEZO2 | TRPA1 | O75762 | 732 |
| PIEZO2 | TRPV4 | Q9HBA0 | 728 |
| PIEZO2 | TRPV1 | Q8NER1 | 715 |
| PIEZO2 | STOML3 | Q8TAV4 | 690 |
| PIEZO2 | TMEM150C | B9EJG8 | 672 |
| PIEZO2 | KCNK4 | Q9NYG8 | 651 |
| PIEZO2 | KCNK2 | O95069 | 650 |
| PIEZO2 | TMC2 | Q8TDI7 | 642 |
| PIEZO2 | SCN10A | Q9Y5Y9 | 610 |
| PIEZO2 | TRPM8 | Q7Z2W7 | 605 |
| PIEZO2 | ASIC3 | Q9UHC3 | 604 |
| PIEZO2 | ASIC2 | Q16515 | 599 |
| PIEZO2 | SCN9A | Q15858 | 586 |
| PIEZO2 | MRGPRD | Q8TDS7 | 574 |
| PIEZO2 | TMC1 | Q8TDI8 | 566 |

#### IntAct

**BioGRID (9 interactions; top human partners by supporting records):** HIST1H3A (Cross-Linking-MS (XL-MS)), KIF20A (Affinity Capture-MS), KTN1 (Cross-Linking-MS (XL-MS)), LAYN (Proximity Label-MS), NRAS (Proximity Label-MS), PARP1 (Proximity Label-MS), PARP9 (Proximity Label-MS), PRKAA1 (Affinity Capture-MS), STMN1 (Cross-Linking-MS (XL-MS))

#### SIGNOR signaling

1 signaling interactions:

| A | Effect | B | Mechanism |
| --- | --- | --- | --- |
| PIEZO2 | "form complex" | "Hair cells mechanotransduction channel" | binding |

## Disease & clinical

### Genetic variants

**Variant evidence for PIEZO2:** [1,566 ClinVar records](#clinvar) (138 pathogenic / likely pathogenic); [11 GWAS associations](#gwas-assoc). Per-variant detail is on [Sugi Variant](https://sugi.bio/variant/gene/PIEZO2).

#### ClinVar

1,566 variants total. Per-class counts are floors (≥ shown; pagination cap):

| Classification | Count (floor) |
| --- | --- |
| Pathogenic | 60 |
| Likely pathogenic | 78 |
| Uncertain significance | 728 |
| Likely benign | 319 |
| Benign | 251 |

#### Top pathogenic / likely-pathogenic (15)

Showing the 15 best-reviewed of 138 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

| Variant ID | HGVS | Classification | Review | Submitters |
| --- | --- | --- | --- | --- |
| 137629 | [NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His)](https://sugi.bio/variant/piezo2-p-arg2799his) | Pathogenic | criteria provided, multiple submitters, no conflicts | 19 |
| 235839 | [NM_001378183.1(PIEZO2):c.8514AGA[2] (p.Glu2840del)](https://sugi.bio/variant/piezo2-p-glu2840del) | Pathogenic | criteria provided, multiple submitters, no conflicts | 11 |
| 489219 | [NM_001378183.1(PIEZO2):c.5257-1G>A](https://sugi.bio/variant/piezo2-c-5257-minus-1g-a) | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 |
| 1033996 | [NM_001378183.1(PIEZO2):c.6614del (p.Thr2205fs)](https://sugi.bio/variant/piezo2-p-thr2205fs) | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 |
| 1033997 | [NM_001378183.1(PIEZO2):c.7807G>T (p.Glu2603Ter)](https://sugi.bio/variant/piezo2-p-glu2603ter) | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 |
| 1339520 | [NM_001378183.1(PIEZO2):c.273_279del (p.Pro92fs)](https://sugi.bio/variant/piezo2-p-pro92fs) | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 |
| 489220 | [NM_001378183.1(PIEZO2):c.1528-1G>A](https://sugi.bio/variant/piezo2-c-1528-minus-1g-a) | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 |
| 978137 | [NM_001378183.1(PIEZO2):c.4708+2T>G](https://sugi.bio/variant/piezo2-c-4708-plus-2t-g) | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 |
| 1324900 | [NM_001378183.1(PIEZO2):c.7686+1G>C](https://sugi.bio/variant/piezo2-c-7686-plus-1g-c) | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 |
| 2571822 | [NM_001378183.1(PIEZO2):c.76C>T (p.Arg26Ter)](https://sugi.bio/variant/piezo2-p-arg26ter) | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 |
| 3377454 | [NM_001378183.1(PIEZO2):c.7555G>A (p.Gly2519Arg)](https://sugi.bio/variant/piezo2-p-gly2519arg) | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 |
| 374902 | [NM_001378183.1(PIEZO2):c.5960del (p.Leu1987fs)](https://sugi.bio/variant/piezo2-p-leu1987fs) | Pathogenic | criteria provided, single submitter | 2 |
| 374904 | [NM_001378183.1(PIEZO2):c.3095_3105del (p.Pro1032fs)](https://sugi.bio/variant/piezo2-p-pro1032fs) | Pathogenic | criteria provided, single submitter | 2 |
| 632546 | [NM_001378183.1(PIEZO2):c.1384C>T (p.Arg462Ter)](https://sugi.bio/variant/piezo2-p-arg462ter) | Pathogenic | criteria provided, single submitter | 2 |
| 638404 | [NM_001378183.1(PIEZO2):c.2170-2A>C](https://sugi.bio/variant/piezo2-c-2170-minus-2a-c) | Pathogenic | criteria provided, single submitter | 2 |

#### Per-variant reference — Sugi Variant

Explore PIEZO2's pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on [Sugi Variant](https://sugi.bio/variant/gene/PIEZO2).

#### SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 26 predictions of 5,339):

| Position(s) | Effect | Δscore | Sites |
| --- | --- | --- | --- |
| 18:10677745–10677746 | donor_loss | 1.0000 | 5 |
| 18:10677837 | donor_gain | 1.0000 |  |
| 18:10689653–10689654 | donor_loss | 1.0000 | 5 |
| 18:10731409 | donor_gain | 1.0000 |  |
| 18:10731522–10731523 | acceptor_gain | 1.0000 | 3 |
| 18:10731522–10731523 | acceptor_loss | 1.0000 | 2 |
| 18:10734037 | donor_gain | 1.0000 |  |
| 18:10742496 | donor_gain | 1.0000 |  |
| 18:10759910–10759911 | acceptor_loss | 1.0000 | 6 |
| 18:10759912 | acceptor_gain | 1.0000 |  |

#### AlphaMissense

6,100 missense substitutions predicted likely pathogenic (of 19,009 scored), across 1,224 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

| Residue | Likely-pathogenic substitutions | Mean am_pathogenicity | Max am_pathogenicity |
| --- | --- | --- | --- |
| M1481 | 9 | 0.984 | 0.998 |
| M1139 | 9 | 0.982 | 0.999 |
| M2697 | 9 | 0.979 | 0.999 |
| M2236 | 9 | 0.963 | 0.999 |
| M2454 | 9 | 0.956 | 0.995 |
| M2193 | 9 | 0.951 | 0.998 |
| M2244 | 9 | 0.950 | 0.999 |
| M2351 | 9 | 0.945 | 0.999 |
| M2423 | 9 | 0.924 | 0.996 |
| M2274 | 9 | 0.891 | 0.996 |
| M1954 | 9 | 0.858 | 0.991 |
| D1415 | 8 | 0.999 | 1.000 |
| D2247 | 8 | 0.999 | 1.000 |
| D2352 | 8 | 0.999 | 1.000 |
| D2370 | 8 | 0.998 | 1.000 |
| D2019 | 8 | 0.997 | 0.999 |
| F1554 | 8 | 0.996 | 1.000 |
| H2029 | 8 | 0.995 | 0.999 |
| F2211 | 8 | 0.995 | 1.000 |
| D2713 | 8 | 0.995 | 0.999 |

### HPA cancer prognostics

**RNA cancer specificity:** Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

2 prognostic cancer types:

| Cancer | Prognostic | p-value |
| --- | --- | --- |
| Kidney Renal Clear Cell Carcinoma (TCGA) | favorable | 8.23e-06 |
| Stomach Adenocarcinoma (TCGA) | unfavorable | 8.15e-05 |

### Disease associations

**OMIM:** gene `MIM:613629` | disease phenotypes: MIM:108145 (Arthrogryposis, distal, type 5), MIM:114300 (Arthrogryposis, distal, type 3), MIM:248700 (Marden-Walker syndrome), MIM:617146 (Arthrogryposis, distal, with impaired proprioception and touch), MIM:617468 (Arthrogryposis multiplex congenita, neurogenic, with myelin defect), MIM:208150 (Fetal akinesia deformation sequence)

#### GenCC curated gene-disease

5 curated gene-disease records:

| Disease | Classification | Inheritance | Records |
| --- | --- | --- | --- |
| [Gordon syndrome](/atlas/disease/gordon-syndrome/) | Definitive | Autosomal dominant | 5 |
| [arthrogryposis, distal, with impaired proprioception and touch](/atlas/disease/arthrogryposis-distal-with-impaired-proprioception-and-touch/) | Definitive | Autosomal recessive | 6 |
| [arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome](/atlas/disease/arthrogryposis-oculomotor-limitation-electroretinal-anomalies-syndrome/) | Strong | Autosomal dominant | 3 |
| [Marden-Walker syndrome](/atlas/disease/marden-walker-syndrome/) | Moderate | Autosomal dominant | 3 |
| [connective tissue disorder](/atlas/disease/connective-tissue-disorder/) | Moderate | Autosomal recessive |  |

#### Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (10 panels, 9 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

10 panels:

| Panel | Rating |
| --- | --- |
| Arthrogryposis | green |
| Clefting | green |
| Congenital myopathy | green |
| DDG2P | green |
| Fetal anomalies | green |
| Hereditary neuropathy or pain disorder | green |
| Hypotonic infant | green |
| Other rare neuromuscular disorders | green |
| Paediatric disorders | green |
| Ehlers Danlos syndrome with a likely monogenic cause | amber |

**Mondo (7):** [arthrogryposis, distal, with impaired proprioception and touch](/atlas/disease/arthrogryposis-distal-with-impaired-proprioception-and-touch/) (MONDO:0014941), [Gordon syndrome](/atlas/disease/gordon-syndrome/) (MONDO:0007252), [arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome](/atlas/disease/arthrogryposis-oculomotor-limitation-electroretinal-anomalies-syndrome/) (MONDO:0007158), [Marden-Walker syndrome](/atlas/disease/marden-walker-syndrome/) (MONDO:0009564), [connective tissue disorder](/atlas/disease/connective-tissue-disorder/) (MONDO:0003900), [arthrogryposis multiplex congenita](/atlas/disease/arthrogryposis-multiplex-congenita/) (MONDO:0015168), [fetal akinesia deformation sequence 1](/atlas/disease/fetal-akinesia-deformation-sequence-1/) (MONDO:0100101)

**Orphanet (5):** Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome (Orphanet:1154), Gordon syndrome (Orphanet:376), Marden-Walker syndrome (Orphanet:2461), Arthrogryposis multiplex congenita (Orphanet:1037), Fetal akinesia deformation sequence (Orphanet:994)

#### HPO phenotypes

showing 60 of 175 phenotypes (HPO-id order):

| HPO | Term |
| --- | --- |
| HP:0000003 | Multicystic kidney dysplasia |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000023 | Inguinal hernia |
| HP:0000028 | Cryptorchidism |
| HP:0000036 | Abnormal penis morphology |
| HP:0000039 | Epispadias |
| HP:0000047 | Hypospadias |
| HP:0000054 | Micropenis |
| HP:0000072 | Hydroureter |
| HP:0000077 | Abnormality of the kidney |
| HP:0000079 | Abnormality of the urinary system |
| HP:0000089 | Renal hypoplasia |
| HP:0000104 | Renal agenesis |
| HP:0000110 | Renal dysplasia |
| HP:0000126 | Hydronephrosis |
| HP:0000160 | Narrow mouth |
| HP:0000175 | Cleft palate |
| HP:0000176 | Submucous cleft hard palate |
| HP:0000193 | Bifid uvula |
| HP:0000218 | High palate |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000238 | Hydrocephalus |
| HP:0000252 | Microcephaly |
| HP:0000260 | Wide anterior fontanel |
| HP:0000278 | Retrognathia |
| HP:0000286 | Epicanthus |
| HP:0000298 | Mask-like facies |
| HP:0000316 | Hypertelorism |
| HP:0000324 | Facial asymmetry |
| HP:0000325 | Triangular face |
| HP:0000343 | Long philtrum |
| HP:0000347 | Micrognathia |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000365 | Hearing impairment |
| HP:0000369 | Low-set ears |
| HP:0000400 | Macrotia |
| HP:0000411 | Protruding ear |
| HP:0000431 | Wide nasal bridge |
| HP:0000463 | Anteverted nares |
| HP:0000470 | Short neck |
| HP:0000483 | Astigmatism |
| HP:0000486 | Strabismus |
| HP:0000490 | Deeply set eye |
| HP:0000505 | Visual impairment |
| HP:0000508 | Ptosis |
| HP:0000512 | Abnormal electroretinogram |
| HP:0000540 | Hypermetropia |
| HP:0000563 | Keratoconus |
| HP:0000568 | Microphthalmia |
| HP:0000581 | Blepharophimosis |
| HP:0000602 | Ophthalmoplegia |
| HP:0000648 | Optic atrophy |
| HP:0000766 | Abnormal sternum morphology |
| HP:0000767 | Pectus excavatum |
| HP:0000768 | Pectus carinatum |
| HP:0000954 | Single transverse palmar crease |
| HP:0001119 | Keratoglobus |
| HP:0001166 | Arachnodactyly |
| HP:0001193 | Ulnar deviation of the hand or of fingers of the hand |

#### GWAS associations

11 associations:

| Study | Trait | p-value |
| --- | --- | --- |
| GCST006630_33 | Diastolic blood pressure | 5e-17 |
| GCST001859_37 | Thiazide-induced adverse metabolic effects in hypertensive patients | 3e-7 |
| GCST002337_19 | Amyotrophic lateral sclerosis (sporadic) | 9e-7 |
| GCST001210_1 | Non-small cell lung cancer | 1e-6 |
| GCST003026_5 | Yu-Zhi constitution type in type 2 diabetes | 1e-6 |
| GCST001850_27 | Major depressive disorder | 3e-6 |
| GCST001850_8 | Major depressive disorder | 4e-6 |
| GCST003263_46 | Post bronchodilator FEV1 in COPD | 4e-6 |
| GCST003263_29 | Post bronchodilator FEV1 in COPD | 5e-6 |
| GCST001821_9 | Metabolite levels (5-HIAA/ MHPG Ratio) | 8e-6 |
| GCST001786_26 | Dental caries | 9e-6 |

#### EFO canonical traits (from GWAS)

6 canonical traits:

| EFO ID | Trait name |
| --- | --- |
| EFO:0005132 | 5-HIAA measurement |
| EFO:0005133 | MHPG measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0007638 | Yu-Zhi constitution type |
| EFO:0004314 | forced expiratory volume |
| EFO:0006336 | diastolic blood pressure |

#### MeSH disease descriptors

3 disease descriptors:

| Descriptor | Name | Tree numbers |
| --- | --- | --- |
| D003240 | Connective Tissue Diseases | C17.300 |
| C537288 | Gordon syndrome \*(supp.)\* |  |
| C535910 | Marden-Walker syndrome \*(supp.)\* |  |

## Drugs & pharmacology

### Drug and pharmacology data

**Is drug target: no**

**PharmGKB:** 1 entry (CPIC guideline: no)

#### GtoPdb / IUPHAR curated pharmacology

*(IUPHAR/BPS Guide to Pharmacology — expert-curated)*

**Target class:** other ic — *Piezo channels*

**Most potent curated ligand interactions (1 total), top 1:**

| Ligand | Action | Affinity | Parameter |
| --- | --- | --- | --- |
| GsMTx-4 | Inhibition | 5.3 | pIC50 |

#### CTD chemical–gene interactions

52 total (human), top 30 by PubMed support.

| Chemical | Actions (top 5) | PubMed papers |
| --- | --- | --- |
| Valproic Acid | affects cotreatment, increases expression, affects expression, decreases expression, increases methylation | 8 |
| Benzo(a)pyrene | decreases expression, increases expression, affects expression, affects methylation | 5 |
| Aflatoxin B1 | affects expression, decreases expression, decreases methylation, increases methylation | 4 |
| sodium arsenite | increases expression, decreases expression, increases abundance | 3 |
| Cyclosporine | decreases expression | 3 |
| bisphenol A | increases expression, affects cotreatment, decreases methylation | 2 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tetrachlorodibenzodioxin | increases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| sotorasib | affects cotreatment, increases expression | 1 |
| propionaldehyde | decreases expression | 1 |
| trichostatin A | increases expression | 1 |
| hydroxyhydroquinone | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| nickel sulfate | increases expression | 1 |
| diallyl trisulfide | decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| trametinib | affects cotreatment, increases expression | 1 |
| NVP-BKM120 | affects cotreatment, increases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Panobinostat | affects cotreatment, increases expression | 1 |

#### Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

| Cellosaurus | Name | Category | Sex |
| --- | --- | --- | --- |
| CVCL_F1TH | HyCyte SH-SY5Y KO-hPIEZO2 | Cancer cell line | Female |

#### Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

showing 60 of 383 trials:

| NCT | Phase | Status | Title |
| --- | --- | --- | --- |
| NCT01042158 | Phase 4 | COMPLETED | A Clinical Trial of Ambrisentan and Tadalafil in Pulmonary Arterial Hypertension Associated With Systemic Sclerosis |
| NCT03688191 | Phase 4 | UNKNOWN | Study of Sirolimus in CTD-TP in China |
| NCT04169100 | Phase 4 | UNKNOWN | Novel Form of Acquired Long QT Syndrome |
| NCT04197050 | Phase 4 | UNKNOWN | Effect of Sacubitril/Valsartan on Reduced Right Ventricular Ejection Fraction in Patients With CTD |
| NCT04928586 | Phase 4 | UNKNOWN | Immunosuppressant Combined With Pirfenidone in CTD-ILD |
| NCT05440240 | Phase 4 | RECRUITING | Percutaneous Needle Fasciotomy +/- Corticosteroid Injection for Dupuytren's Contracture |
| NCT05505409 | Phase 4 | UNKNOWN | Efficacy and Safety of Pirfenidone in CTD-ILD |
| NCT06499233 | Phase 4 | RECRUITING | Efficacy and Safety of Prophylactic Treatment for Pneumocystis Jirovecii Pneumonia in Patients With Autoimmune Inflammatory Rheumatic Disease |
| NCT00154830 | Phase 4 | COMPLETED | Alterations of Functional Activities and Leg Stiffness After Hamstring Lengthening in Cerebral Palsy Children |
| NCT00432055 | Phase 4 | COMPLETED | Effects of Botulinum Toxin Type A in Adults With Cerebral Palsy |
| NCT00549471 | Phase 4 | TERMINATED | Improvement After Botulinum Toxin Injections to the Arms in Children With Cerebral Palsy |
| NCT00752934 | Phase 4 | TERMINATED | Does Oral Baclofen Improve Care and Comfort in Spastic Children in Nursing Homes? |
| NCT00964639 | Phase 4 | COMPLETED | Postoperative Pain in Children With Cerebral Palsy After Pelvic and Femoral Osteotomies |
| NCT01386255 | Phase 4 | WITHDRAWN | Placebo Controlled Study of Baclofen for GERD in Children With Cerebral Palsy |
| NCT02546999 | Phase 4 | COMPLETED | Does Botulinum Toxin A Make Walking Easier in Children With Cerebral Palsy? |
| NCT02633241 | Phase 4 | COMPLETED | A Pilot Study of Dexmedetomidine-Propofol in Children Undergoing Magnetic Resonance Imaging |
| NCT03117322 | Phase 4 | COMPLETED | Synbiotic, Prebiotics and Probiotics in Children With Cerebral Palsy and Constipation |
| NCT03648658 | Phase 4 | UNKNOWN | Paracetamol Study in Patients With Low Muscle Mass |
| NCT04074265 | Phase 4 | COMPLETED | Peri-operative Use of a Pain Injection in Pediatric Patients With Cerebral Palsy |
| NCT04273737 | Phase 4 | TERMINATED | Amantadine in Treating Cognitive & Motor Impairments in Adolescents and Adults With Cerebral Palsy |
| NCT04523935 | Phase 4 | COMPLETED | Excessive Crying in Children With Cerebral Palsy and Communication Deficits |
| NCT05887765 | Phase 4 | COMPLETED | Effect of Systematic Dexamethasone on the Duration of Popliteal Nerve Block for Anesthesia After Pediatric Ankle Surgery |
| NCT06176430 | Phase 4 | UNKNOWN | Comparison of Twice Weekly Versus Daily Iron Therapy in Treating Anemia in Children With Cerebral Palsy |
| NCT06189781 | Phase 4 | RECRUITING | Pain Injection Versus Epidural Anesthesia for Hip Surgery in Pediatric Patients With Cerebral Palsy |
| NCT00864201 | Phase 3 | UNKNOWN | A Study to Evaluate the Use of Bosentan in Patients With Exercise Induced Pulmonary Arterial Hypertension Associated With Connective Tissue Disease |
| NCT01196091 | Phase 3 | COMPLETED | A Study of LY2127399 in Participants With Systemic Lupus Erythematosus |
| NCT01205438 | Phase 3 | COMPLETED | A Study of LY2127399 in Participants With Systemic Lupus Erythematosus |
| NCT01488708 | Phase 3 | TERMINATED | On Open-Label Study in Participants With Systemic Lupus Erythematosus |
| NCT03626688 | Phase 3 | COMPLETED | A Study Evaluating the Efficacy and Safety of Ralinepag to Improve Treatment Outcomes in PAH Patients |
| NCT03683186 | Phase 3 | ENROLLING_BY_INVITATION | A Study Evaluating the Long-Term Efficacy and Safety of Ralinepag in Subjects With PAH Via an Open-Label Extension |
| NCT06716606 | Phase 3 | RECRUITING | A Study to Investigate the Long-term Safety and Efficacy of Belimumab in Adults With Interstitial Lung Disease (ILD) Associated With Systemic Sclerosis (SSc) and Other Connective Tissue Diseases (CTD) (BLISSconneCTD-OLE) |
| NCT06917690 | Phase 3 | RECRUITING | A Study to Learn About the Safety and Efficacy of the Drug Oleogel-S10 in Japanese Patients With Epidermolysis Bullosa |
| NCT00014989 | Phase 3 | COMPLETED | Beneficial Effects of Antenatal Magnesium Sulfate (BEAM Trial) |
| NCT00065949 | Phase 3 | UNKNOWN | Magnesium Sulfate to Prevent Brain Injury in Premature Infants |
| NCT00367068 | Phase 3 | COMPLETED | Dutch National ITB Study in Children With Cerebral Palsy |
| NCT00491894 | Phase 3 | COMPLETED | Safety and Efficacy Study of Oral Glycopyrrolate Liquid for the Treatment of Pathologic (Chronic Moderate to Severe) Drooling in Pediatric Patients 3 to 18 Years of Age With Cerebral Palsy or Other Neurologic Conditions |
| NCT00632528 | Phase 3 | COMPLETED | MEOPA to Improve Physical Therapy Results After Multilevel Surgery |
| NCT00822029 | Phase 3 | TERMINATED | Use of Oral Bisphosphonates in the Treatment of Osteoporosis of Non-walking Children With Cerebral Palsy |
| NCT00922077 | Phase 3 | COMPLETED | Individualized Neurodevelopmental Treatment |
| NCT01249417 | Phase 3 | COMPLETED | Dysport® Pediatric Lower Limb Spasticity Study |
| NCT01251380 | Phase 3 | COMPLETED | Dysport® Pediatric Lower Limb Spasticity Follow-on Study |
| NCT01437644 | Phase 3 | COMPLETED | The Post-Operative Pain in Cerebral Palsy (POPPIES) Trial |
| NCT01492608 | Phase 3 | COMPLETED | Magnesium Sulphate for Preterm Birth (MASP Study) |
| NCT01603602 | Phase 3 | COMPLETED | BOTOX® Treatment in Pediatric Upper Limb Spasticity |
| NCT01603615 | Phase 3 | COMPLETED | BOTOX® Open-Label Treatment in Pediatric Upper Limb Spasticity |
| NCT01603628 | Phase 3 | COMPLETED | BOTOX® Treatment in Pediatric Lower Limb Spasticity |
| NCT01603641 | Phase 3 | COMPLETED | BOTOX® Open-Label Treatment in Pediatric Lower Limb Spasticity |
| NCT01633736 | Phase 3 | UNKNOWN | Targeted Hip Strength Training in Children With Cerebral Palsy (CP) |
| NCT01898520 | Phase 3 | COMPLETED | A Safety, Efficacy and Tolerability Study of Sativex for the Treatment of Spasticity in Children Aged 8 to 18 Years |
| NCT01929434 | Phase 3 | COMPLETED | Efficacy of Stem Cell Transplantation Compared to Rehabilitation Treatment of Patients With Cerebral Paralysis |
| NCT02002884 | Phase 3 | COMPLETED | Dose-response Study of Efficacy and Safety of Botulinum Toxin Type A to Treat Spasticity of the Arm(s) or of Arm(s) and Leg(s) in Cerebral Palsy |
| NCT02270736 | Phase 3 | COMPLETED | Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability |
| NCT02839785 | Phase 3 | TERMINATED | Analgesia and Physiotherapy in Children With Cerebral Palsy (ANTALKINECP) |
| NCT03110341 | Phase 3 | UNKNOWN | Effect of Erythropoietin in Premature Infants on White Matter Lesions and Neurodevelopmental Outcome |
| NCT03302871 | Phase 3 | COMPLETED | Integrated Management Enhances Functional Gains in Children With Cerebral Palsy Treated by BoNT-A |
| NCT03306212 | Phase 3 | COMPLETED | Efficacy of Intermittent Serial Casting on Spastic Wrist Flexion Deformity |
| NCT03469999 | Phase 3 | COMPLETED | Effect of Dysport Injections on Energy Expenditure and Walking Efficiency in Children With Cerebral Palsy |
| NCT03472261 | Phase 3 | COMPLETED | Integrated Management of Pronation Deformity in Cerebral Palsy |
| NCT03616067 | Phase 3 | TERMINATED | Evaluation of the Efficacy of the Injection of Botulinum Toxin A vs Scopolamine Patches in the Treatment of Drooling in Children With Cerebral Palsy |
| NCT05206513 | Phase 3 | COMPLETED | Study to Assess the Efficacy, Safety, and Tolerability of Valbenazine for the Treatment of Dyskinesia Due to Cerebral Palsy |

## Related Atlas pages

- **Associated diseases:** [arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome](/atlas/disease/arthrogryposis-oculomotor-limitation-electroretinal-anomalies-syndrome/), [Gordon syndrome](/atlas/disease/gordon-syndrome/), [Marden-Walker syndrome](/atlas/disease/marden-walker-syndrome/), [arthrogryposis, distal, with impaired proprioception and touch](/atlas/disease/arthrogryposis-distal-with-impaired-proprioception-and-touch/), [connective tissue disorder](/atlas/disease/connective-tissue-disorder/)
- **Targeted by drugs:** [Propofol](/atlas/drug/propofol/)
- **Disease cohort memberships** *(association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases)*: [arthrogryposis](/atlas/disease/arthrogryposis/), [arthrogryposis multiplex congenita](/atlas/disease/arthrogryposis-multiplex-congenita/), [arthrogryposis, distal, with impaired proprioception and touch](/atlas/disease/arthrogryposis-distal-with-impaired-proprioception-and-touch/), [arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome](/atlas/disease/arthrogryposis-oculomotor-limitation-electroretinal-anomalies-syndrome/), [cerebral palsy](/atlas/disease/cerebral-palsy/), [cleft palate](/atlas/disease/cleft-palate/), [congenital contractures](/atlas/disease/congenital-contractures/), [connective tissue disorder](/atlas/disease/connective-tissue-disorder/), [distal arthrogryposis](/atlas/disease/distal-arthrogryposis/), [exocrine pancreatic insufficiency](/atlas/disease/exocrine-pancreatic-insufficiency/), [fetal akinesia deformation sequence 1](/atlas/disease/fetal-akinesia-deformation-sequence-1/), [Gordon syndrome](/atlas/disease/gordon-syndrome/), [heterotaxy, visceral, 4, autosomal](/atlas/disease/heterotaxy-visceral-4-autosomal/), [Marden-Walker syndrome](/atlas/disease/marden-walker-syndrome/), [myopathy](/atlas/disease/myopathy/), [scoliosis](/atlas/disease/scoliosis/)