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

    Gene ID: 63895, updated on 7-Nov-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (10670247..11149569, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (10832368..11311713, complement)
    RS_2024_09 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 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. Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. Coste B, et al. Proc Natl Acad Sci U S A, 2013 Mar 19. PMID 23487782, Free PMC Article
    2. Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family. Zapata-Aldana E, et al. Am J Med Genet A, 2019 Jun. PMID 30938034
    3. The Piezo2 ion channel is mechanically activated by low-threshold positive pressure. Shin KC, et al. Sci Rep, 2019 Apr 23. PMID 31015490, Free PMC Article
    4. PIEZO2: A Novel Molecule Involved in the Development of AIS. Wu Z, et al. Spine (Phila Pa 1976), 2020 Feb 1. PMID 31513102
    5. A neuromuscular disorder with homozygosity for PIEZO2 gene variants: an important differential diagnosis for kyphoscoliotic Ehlers-Danlos Syndrome. Oakley-Hannibal E, et al. Clin Dysmorphol, 2020 Jan. PMID 31609726

    See all (70) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Axonal and Glial PIEZO1 and PIEZO2 Immunoreactivity in Human Clitoral Krause's Corpuscles.
      Title: Axonal and Glial PIEZO1 and PIEZO2 Immunoreactivity in Human Clitoral Krause's Corpuscles.
    2. Mechanisms of mechanotransduction and physiological roles of PIEZO channels.
      Title: Mechanisms of mechanotransduction and physiological roles of PIEZO channels.
    3. TMC7 functions as a suppressor of Piezo2 in primary sensory neurons blunting peripheral mechanotransduction.
      Title: TMC7 functions as a suppressor of Piezo2 in primary sensory neurons blunting peripheral mechanotransduction.
    4. 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.
    5. 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.
    6. Asymmetric expression of PIEZO2 in paraspinal muscles of adolescent idiopathic scoliosis.
      Title: Asymmetric expression of PIEZO2 in paraspinal muscles of adolescent idiopathic scoliosis.
    7. 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.
    8. 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.
    9. PIEZO2 and perineal mechanosensation are essential for sexual function.
      Title: PIEZO2 and perineal mechanosensation are essential for sexual function.
    10. Piezo2 expressing nociceptors mediate mechanical sensitization in experimental osteoarthritis.
      Title: Piezo2 expressing nociceptors mediate mechanical sensitization in experimental osteoarthritis.
    Submit: New GeneRIF Correction See all GeneRIFs (53)

    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
    		not available
    Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
    MedGen: C1862472 OMIM: 108145 GeneReviews: Not available
    		not available
    Gordon syndrome
    MedGen: C0220666 OMIM: 114300 GeneReviews: Not available
    		not available
    Marden-Walker syndrome
    MedGen: C0796033 OMIM: 248700 GeneReviews: Not available
    		not available

    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 cation channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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
    located_in cuticular plate ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in neuronal cell body membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in stereocilium ISS
    Inferred from Sequence or Structural Similarity
    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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