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

    Gene ID: 63895, updated on 6-Jun-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001378183.1NP_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:24532862
      Piezo_RRas_bdg; Piezo non-specific cation channel, R-Ras-binding domain
      pfam15917
      Location:13911658
      PIEZO; Piezo
    2. NM_001410871.1NP_001397800.1  piezo-type mechanosensitive ion channel component 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AP001180, AP005117, AP005120, AP005404
      Consensus CDS
      CCDS92435.1
      UniProtKB/TrEMBL
      E7EVM7
      Related
      ENSP00000463094.1, ENST00000580640.5
    3. NM_022068.4NP_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:23402749
      Piezo_RRas_bdg; Piezo non-specific cation channel, R-Ras-binding domain
      pfam15917
      Location:13661597
      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_047437735.1XP_047293691.1  piezo-type mechanosensitive ion channel component 2 isoform X4

      UniProtKB/TrEMBL
      E7EVM7
    2. XM_017025918.3XP_016881407.1  piezo-type mechanosensitive ion channel component 2 isoform X2

      UniProtKB/TrEMBL
      E7EVM7
    3. XM_047437736.1XP_047293692.1  piezo-type mechanosensitive ion channel component 2 isoform X6

      UniProtKB/TrEMBL
      E7EVM7
    4. XM_011525725.4XP_011524027.1  piezo-type mechanosensitive ion channel component 2 isoform X3

      UniProtKB/TrEMBL
      E7EVM7
      Conserved Domains (2) summary
      pfam12166
      Location:23542763
      Piezo_RRas_bdg; Piezo non-specific cation channel, R-Ras-binding domain
      pfam15917
      Location:13801611
      PIEZO; Piezo
    5. XM_011525726.4XP_011524028.1  piezo-type mechanosensitive ion channel component 2 isoform X5

      UniProtKB/TrEMBL
      E7EVM7
      Conserved Domains (2) summary
      pfam12166
      Location:23232732
      Piezo_RRas_bdg; Piezo non-specific cation channel, R-Ras-binding domain
      pfam15917
      Location:14101641
      PIEZO; Piezo
    6. XM_011525723.4XP_011524025.1  piezo-type mechanosensitive ion channel component 2 isoform X1

      UniProtKB/TrEMBL
      E7EVM7
      Conserved Domains (2) summary
      pfam12166
      Location:23842793
      Piezo_RRas_bdg; Piezo non-specific cation channel, R-Ras-binding domain
      pfam15917
      Location:14101641
      PIEZO; Piezo
    7. XM_047437737.1XP_047293693.1  piezo-type mechanosensitive ion channel component 2 isoform X7

      UniProtKB/TrEMBL
      E7EVM7
      Related
      ENSP00000372900.4, ENST00000383408.7
    8. XM_047437738.1XP_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_054318972.1XP_054174947.1  piezo-type mechanosensitive ion channel component 2 isoform X4

      UniProtKB/TrEMBL
      E7EVM7
    2. XM_054318970.1XP_054174945.1  piezo-type mechanosensitive ion channel component 2 isoform X2

      UniProtKB/TrEMBL
      E7EVM7
    3. XM_054318974.1XP_054174949.1  piezo-type mechanosensitive ion channel component 2 isoform X6

      UniProtKB/TrEMBL
      E7EVM7
    4. XM_054318971.1XP_054174946.1  piezo-type mechanosensitive ion channel component 2 isoform X3

      UniProtKB/TrEMBL
      E7EVM7
    5. XM_054318973.1XP_054174948.1  piezo-type mechanosensitive ion channel component 2 isoform X5

      UniProtKB/TrEMBL
      E7EVM7
    6. XM_054318969.1XP_054174944.1  piezo-type mechanosensitive ion channel component 2 isoform X1

      UniProtKB/TrEMBL
      E7EVM7
    7. XM_054318975.1XP_054174950.1  piezo-type mechanosensitive ion channel component 2 isoform X7

      UniProtKB/TrEMBL
      E7EVM7
    8. XM_054318976.1XP_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.