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PIEZO2 piezo type mechanosensitive ion channel component 2 [ Homo sapiens (human) ]

Gene ID: 63895, updated on 16-Apr-2024

Summary

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Official Symbol
PIEZO2provided by HGNC
Official Full Name
piezo type mechanosensitive ion channel component 2provided by HGNC
Primary source
HGNC:HGNC:26270
See related
Ensembl:ENSG00000154864 MIM:613629; AllianceGenome:HGNC:26270
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DA3; DA5; MWKS; DAIPT; FAM38B; HsT748; HsT771; FAM38B2; C18orf30; C18orf58
Summary
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]
Expression
Broad expression in lung (RPKM 2.7), gall bladder (RPKM 2.6) and 20 other tissues See more
Orthologs
mouse all
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Genomic context

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See PIEZO2 in Genome Data Viewer
Location:
18p11.22-p11.21
Exon count:
58
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (10670247..11149569, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (10832368..11311713, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (10670244..11149568, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987262 Neighboring gene uncharacterized LOC101927410 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13084 Neighboring gene KIAA0895-like pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:10769534-10770733 Neighboring gene microRNA 6788 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13085 Neighboring gene NANOG hESC enhancer GRCh37_chr18:10921815-10922316 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13086 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13087 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13088 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13089 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13090 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13091 Neighboring gene Sharpr-MPRA regulatory region 14785 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13092 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9294 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13093 Neighboring gene uncharacterized LOC124904249 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13094 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:11148139-11148977 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9297 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9298 Neighboring gene uncharacterized LOC105371993 Neighboring gene solute carrier family 41 member 2 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene. Serra G, et al. Ital J Pediatr, 2022 Jul 29. PMID 35906671, Free PMC Article
  2. 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. Sonkodi B, et al. J Mol Neurosci, 2022 Aug. PMID 35507012, Free PMC Article
  3. The Form and Function of PIEZO2. Szczot M, et al. Annu Rev Biochem, 2021 Jun 20. PMID 34153212, Free PMC Article
  4. Confirming the involvement of PIEZO2 in the etiology of Marden-Walker syndrome. Seidahmed MZ, et al. Am J Med Genet A, 2021 Mar. PMID 33369052
  5. Glans clitoris innervation: PIEZO2 and sexual mechanosensitivity. García-Mesa Y, et al. J Anat, 2021 Feb. PMID 32996126, Free PMC Article

See all (58) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Immunolocalization of the mechanogated ion channels PIEZO1 and PIEZO2 in human and mouse dental pulp and periodontal ligament.
    Title: Immunolocalization of the mechanogated ion channels PIEZO1 and PIEZO2 in human and mouse dental pulp and periodontal ligament.
  2. PIEZO2 expression is an independent biomarker prognostic for gastric cancer and represents a potential therapeutic target.
    Title: PIEZO2 expression is an independent biomarker prognostic for gastric cancer and represents a potential therapeutic target.
  3. Asymmetric expression of PIEZO2 in paraspinal muscles of adolescent idiopathic scoliosis.
    Title: Asymmetric expression of PIEZO2 in paraspinal muscles of adolescent idiopathic scoliosis.
  4. Exploring Piezo1, Piezo2, and TMEM150C in human brain tissues and their correlation with brain biomechanical characteristics.
    Title: Exploring Piezo1, Piezo2, and TMEM150C in human brain tissues and their correlation with brain biomechanical characteristics.
  5. Disrupted Neural Regeneration in Dry Eye Secondary to Ankylosing Spondylitis-With a Theoretical Link between Piezo2 Channelopathy and Gateway Reflex, WDR Neurons, and Flare-Ups.
    Title: Disrupted Neural Regeneration in Dry Eye Secondary to Ankylosing Spondylitis-With a Theoretical Link between Piezo2 Channelopathy and Gateway Reflex, WDR Neurons, and Flare-Ups.
  6. PIEZO2 and perineal mechanosensation are essential for sexual function.
    Title: PIEZO2 and perineal mechanosensation are essential for sexual function.
  7. Piezo2 expressing nociceptors mediate mechanical sensitization in experimental osteoarthritis.
    Title: Piezo2 expressing nociceptors mediate mechanical sensitization in experimental osteoarthritis.
  8. PIEZO2 in somatosensory neurons controls gastrointestinal transit.
    Title: PIEZO2 in somatosensory neurons controls gastrointestinal transit.
  9. PIEZO2 promotes cell proliferation and metastasis in colon carcinoma through the SLIT2/ROBO1/VEGFC pathway.
    Title: PIEZO2 promotes cell proliferation and metastasis in colon carcinoma through the SLIT2/ROBO1/VEGFC pathway.
  10. PKA mediates modality-specific modulation of the mechanically gated ion channel PIEZO2.
    Title: PKA mediates modality-specific modulation of the mechanically gated ion channel PIEZO2.
Submit: New GeneRIF Correction See all GeneRIFs (50)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Arthrogryposis, distal, with impaired proprioception and touch
MedGen: C4310692 OMIM: 617146 GeneReviews: Not available
Compare labs
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
MedGen: C1862472 OMIM: 108145 GeneReviews: Not available
Compare labs
Gordon syndrome
MedGen: C0220666 OMIM: 114300 GeneReviews: Not available
Compare labs
Marden-Walker syndrome
MedGen: C0796033 OMIM: 248700 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.
EBI GWAS Catalog
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
EBI GWAS Catalog
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
EBI GWAS Catalog
Genome-wide association scan of dental caries in the permanent dentition.
EBI GWAS Catalog
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
EBI GWAS Catalog
The 18p11.22 locus is associated with never smoker non-small cell lung cancer susceptibility in Korean populations.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ23144, FLJ23403, FLJ25916, FLJ34907, FLJ37734, FLJ45725

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables mechanosensitive monoatomic ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables mechanosensitive monoatomic ion channel activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables monoatomic cation channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in cellular response to mechanical stimulus IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in detection of mechanical stimulus IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in detection of mechanical stimulus involved in sensory perception ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in monoatomic cation transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in monoatomic cation transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in response to mechanical stimulus ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
piezo-type mechanosensitive ion channel component 2
Names
family with sequence similarity 38, member A pseudogene
family with sequence similarity 38, member B2
piezo-type mechanosensitive ion channel component 1 pseudogene
protein PIEZO2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_034005.1 RefSeqGene

    Range
    4194..483516
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001378183.1 → NP_001365112.1  piezo-type mechanosensitive ion channel component 2 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AP001180, AP005404, MG254547
    Consensus CDS
    CCDS92436.1
    UniProtKB/TrEMBL
    A0A2H4UKA7, E7EVM7
    Related
    ENSP00000501957.1, ENST00000674853.1
    Conserved Domains (2) summary
    pfam12166
    Location:2453 → 2862
    Piezo_RRas_bdg; Piezo non-specific cation channel, R-Ras-binding domain
    pfam15917
    Location:1391 → 1658
    PIEZO; Piezo

  2. NM_001410871.1 → NP_001397800.1  piezo-type mechanosensitive ion channel component 2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AP001180, AP005117, AP005120, AP005404
    Consensus CDS
    CCDS92435.1
    Related
    ENSP00000463094.1, ENST00000580640.5

  3. NM_022068.4 → NP_071351.2  piezo-type mechanosensitive ion channel component 2 isoform 2

    See identical proteins and their annotated locations for NP_071351.2

    Status: VALIDATED

    Source sequence(s)
    AP001180, AP005117, AP005120, AP005404
    Consensus CDS
    CCDS11850.2
    UniProtKB/Swiss-Prot
    B7Z812, M4GPJ9, Q6ZS91, Q8N787, Q8NAR6, Q9H5I5, Q9H5R4
    UniProtKB/TrEMBL
    E7EVM7
    Related
    ENSP00000421377.3, ENST00000503781.7
    Conserved Domains (2) summary
    pfam12166
    Location:2340 → 2749
    Piezo_RRas_bdg; Piezo non-specific cation channel, R-Ras-binding domain
    pfam15917
    Location:1366 → 1597
    PIEZO; Piezo

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    10670247..11149569 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047437735.1 → XP_047293691.1  piezo-type mechanosensitive ion channel component 2 isoform X4

  2. XM_017025918.3 → XP_016881407.1  piezo-type mechanosensitive ion channel component 2 isoform X2

    UniProtKB/TrEMBL
    E7EVM7

  3. XM_047437736.1 → XP_047293692.1  piezo-type mechanosensitive ion channel component 2 isoform X6

  4. XM_011525725.4 → XP_011524027.1  piezo-type mechanosensitive ion channel component 2 isoform X3

    UniProtKB/TrEMBL
    E7EVM7
    Conserved Domains (2) summary
    pfam12166
    Location:2354 → 2763
    Piezo_RRas_bdg; Piezo non-specific cation channel, R-Ras-binding domain
    pfam15917
    Location:1380 → 1611
    PIEZO; Piezo

  5. XM_011525726.4 → XP_011524028.1  piezo-type mechanosensitive ion channel component 2 isoform X5

    UniProtKB/TrEMBL
    E7EVM7
    Conserved Domains (2) summary
    pfam12166
    Location:2323 → 2732
    Piezo_RRas_bdg; Piezo non-specific cation channel, R-Ras-binding domain
    pfam15917
    Location:1410 → 1641
    PIEZO; Piezo

  6. XM_011525723.4 → XP_011524025.1  piezo-type mechanosensitive ion channel component 2 isoform X1

    UniProtKB/TrEMBL
    E7EVM7
    Conserved Domains (2) summary
    pfam12166
    Location:2384 → 2793
    Piezo_RRas_bdg; Piezo non-specific cation channel, R-Ras-binding domain
    pfam15917
    Location:1410 → 1641
    PIEZO; Piezo

  7. XM_047437737.1 → XP_047293693.1  piezo-type mechanosensitive ion channel component 2 isoform X7

    Related
    ENSP00000372900.4, ENST00000383408.7

  8. XM_047437738.1 → XP_047293694.1  piezo-type mechanosensitive ion channel component 2 isoform X8

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    10832368..11311713 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054318972.1 → XP_054174947.1  piezo-type mechanosensitive ion channel component 2 isoform X4

  2. XM_054318970.1 → XP_054174945.1  piezo-type mechanosensitive ion channel component 2 isoform X2

  3. XM_054318974.1 → XP_054174949.1  piezo-type mechanosensitive ion channel component 2 isoform X6

  4. XM_054318971.1 → XP_054174946.1  piezo-type mechanosensitive ion channel component 2 isoform X3

  5. XM_054318973.1 → XP_054174948.1  piezo-type mechanosensitive ion channel component 2 isoform X5

  6. XM_054318969.1 → XP_054174944.1  piezo-type mechanosensitive ion channel component 2 isoform X1

  7. XM_054318975.1 → XP_054174950.1  piezo-type mechanosensitive ion channel component 2 isoform X7

  8. XM_054318976.1 → XP_054174951.1  piezo-type mechanosensitive ion channel component 2 isoform X8

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NG_026271.1: Suppressed sequence

    Description
    NG_026271.1: This RefSeq was permanently suppressed because it is now thought that this gene does encode a protein.

  2. NM_173817.1: Suppressed sequence

    Description
    NM_173817.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H5I5.2 GenPept UniProtKB/Swiss-Prot:Q9H5I5

Gene LinkOut

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