Skip to content
Use your HSA or FSA funds

Gene

PIEZO1

piezo type mechanosensitive ion channel component 1 (Er blood group)

Summary

Cytogenetic location
16q24.3
Coordinates
Chromosome 16: 88,715,338–88,785,220 (GRCh38)
Exons
51 exons across 69.9 kb
Protein
2,521 amino acids
Inheritance
Autosomal dominant Autosomal recessive
Also known as
KIAA0233
Previous symbols
FAM38A
MANE Select transcript
ENST00000301015.14NM_001142864.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Primary Lymphoedema & Lymphatic Malformations

    • Lymphatic Malformation 6Autosomal recessive

      Generalised lymphatic dysplasia caused by changes in PIEZO1, which can cause swelling before birth (fetal hydrops) and lifelong swelling.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing about it informs reproductive counselling and pregnancy monitoring.

  • Red Blood Cell Membrane Disorders

    • Hereditary StomatocytosisAutosomal dominant

      A group of conditions in which red cells leak or gain water and salts, including dehydrated hereditary stomatocytosis (PIEZO1, KCNN4), overhydrated stomatocytosis (RHAG), Southeast Asian ovalocytosis and Rh-deficiency syndrome, causing haemolytic anaemia of varying severity and sometimes iron overload.

      • ClinGen rates the link strong
      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Spleen removal should be avoided because it raises the risk of serious blood clots in these conditions.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How PIEZO1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 16, with a bracket where PIEZO1 sits. PIEZO1 and 19 genes near it on chromosome 16, from 88,250,279 to 89,250,278.Chromosome 1616q24.3p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.388.4 Mb88.6 Mb88.8 Mb89 Mb89.2 MbZNF469: 88,382,959–88,440,757, forward strandZNF469ZFPM1: 88,453,208–88,537,031, forward strandZFPM1ZC3H18: 88,570,388–88,631,966, forward strandZC3H18IL17C: 88,638,571–88,640,468, forward strandIL17CCYBA: 88,643,275–88,651,083, reverse strandCYBAMVD: 88,651,934–88,663,166, reverse strandMVDSNAI3: 88,674,992–88,686,513, reverse strandSNAI3RNF166: 88,696,494–88,706,424, reverse strandRNF166CTU2: 88,706,470–88,717,853, forward strandCTU2PIEZO1: 88,715,338–88,785,220, reverse strandPIEZO1CDT1: 88,803,777–88,809,258, forward strandCDT1APRT: 88,808,323–88,811,970, reverse strandAPRTGALNS: 88,813,733–88,857,832, reverse strandGALNSTRAPPC2L: 88,856,220–88,862,686, forward strandTRAPPC2LPABPN1L: 88,863,333–88,866,660, reverse strandPABPN1LCBFA2T3: 88,874,858–88,977,207, reverse strandCBFA2T3ACSF3: 89,088,375–89,164,121, forward strandACSF3CDH15: 89,171,742–89,195,492, forward strandCDH15SLC22A31: 89,195,458–89,201,692, reverse strandSLC22A31ZNF778: 89,217,683–89,237,141, forward strandZNF778Diagram of PIEZO1: 51 exons on the reverse strand of chromosome 16Exon 51: 5 known disease-causing sitesExon 50: 1 known disease-causing siteExon 49: 1 known disease-causing siteExon 48: 1 known disease-causing siteExon 45: 1 known disease-causing siteExon 44: 1 known disease-causing siteExon 43: 2 known disease-causing sitesExon 42: 2 known disease-causing sitesExon 40: 1 known disease-causing siteExon 38: 3 known disease-causing sitesExon 37: 1 known disease-causing siteExon 36: 2 known disease-causing sitesExon 34: 1 known disease-causing siteExon 33: 1 known disease-causing siteExon 32: 2 known disease-causing sitesExon 31: 1 known disease-causing siteExon 26: 1 known disease-causing siteExon 25: 3 known disease-causing sitesExon 24: 3 known disease-causing sitesExon 23: 1 known disease-causing siteExon 22: 2 known disease-causing sitesExon 21: 1 known disease-causing siteExon 19: 1 known disease-causing siteExon 17: 2 known disease-causing sitesExon 16: 1 known disease-causing siteExon 14: 1 known disease-causing siteExon 13: 1 known disease-causing siteExon 12: 2 known disease-causing sitesExon 11: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 2: 3 known disease-causing sitesExon 51: 88,715,338–88,715,854, 517 basesExon 50: 88,715,933–88,716,119, 187 basesExon 49: 88,716,198–88,716,277, 80 basesExon 48: 88,716,361–88,716,483, 123 basesExon 47: 88,716,559–88,716,731, 173 basesExon 46: 88,716,806–88,716,898, 93 basesExon 45: 88,717,023–88,717,211, 189 basesExon 44: 88,719,574–88,719,721, 148 basesExon 43: 88,719,802–88,719,960, 159 basesExon 42: 88,720,069–88,720,283, 215 basesExon 41: 88,720,385–88,720,532, 148 basesExon 40: 88,720,616–88,720,748, 133 basesExon 39: 88,721,166–88,721,430, 265 basesExon 38: 88,721,538–88,721,726, 189 basesExon 37: 88,721,808–88,722,066, 259 basesExon 36: 88,722,218–88,722,397, 180 basesExon 35: 88,722,583–88,722,689, 107 basesExon 34: 88,722,837–88,723,009, 173 basesExon 33: 88,723,095–88,723,151, 57 basesExon 32: 88,723,226–88,723,328, 103 basesExon 31: 88,723,871–88,723,971, 101 basesExon 30: 88,725,009–88,725,080, 72 basesExon 29: 88,725,416–88,725,519, 104 basesExon 28: 88,725,595–88,725,684, 90 basesExon 27: 88,726,284–88,726,455, 172 basesExon 26: 88,726,547–88,726,643, 97 basesExon 25: 88,726,715–88,726,958, 244 basesExon 24: 88,727,039–88,727,192, 154 basesExon 23: 88,727,557–88,727,661, 105 basesExon 22: 88,731,706–88,731,910, 205 basesExon 21: 88,732,335–88,732,535, 201 basesExon 20: 88,732,607–88,732,732, 126 basesExon 19: 88,733,278–88,733,454, 177 basesExon 18: 88,733,588–88,733,745, 158 basesExon 17: 88,733,906–88,734,054, 149 basesExon 16: 88,734,356–88,734,538, 183 basesExon 15: 88,734,650–88,734,798, 149 basesExon 14: 88,734,875–88,735,053, 179 basesExon 13: 88,735,135–88,735,246, 112 basesExon 12: 88,736,148–88,736,408, 261 basesExon 11: 88,736,639–88,736,739, 101 basesExon 10: 88,737,559–88,737,646, 88 basesExon 9: 88,737,728–88,737,814, 87 basesExon 8: 88,737,934–88,738,105, 172 basesExon 7: 88,738,227–88,738,440, 214 basesExon 6: 88,738,568–88,738,736, 169 basesExon 5: 88,741,478–88,741,616, 139 basesExon 4: 88,742,053–88,742,095, 43 basesExon 3: 88,742,300–88,742,422, 123 basesExon 2: 88,749,384–88,749,479, 96 basesExon 1: 88,784,901–88,785,220, 320 bases51402015′3′

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 8.1 kb of the gene's 69.9 kb; 7,566 of those bases code for the protein.

How a genome test reads PIEZO1

63

positions in PIEZO1 where ClinVar classes a change as pathogenic or likely pathogenic

1 of them (1.6%) falls in a region short reads find hard.

  • Low mappability (1 site)Regions where 100 bp or 250 bp reads cannot be placed uniquely.

A whole genome covers all 69.9 kb of PIEZO1, introns included, not only the 8.1 kb of exons.

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.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • 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

APA

Dante Labs. (n.d.). PIEZO1 gene: piezo type mechanosensitive ion channel component 1 (Er blood group). Retrieved 17 October 2026, from https://dantelabs.com/genes/piezo1

Vancouver

Dante Labs. PIEZO1 gene: piezo type mechanosensitive ion channel component 1 (Er blood group) [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/piezo1

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test