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

Gene ID: 63895, updated on 1-Aug-2020

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
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

Genomic context

See PIEZO2 in Genome Data Viewer
Location:
18p11.22-p11.21
Exon count:
57
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (10670237..11149585, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (10670244..11148761, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987262 Neighboring gene uncharacterized LOC101927410 Neighboring gene KIAA0895-like pseudogene Neighboring gene microRNA 6788 Neighboring gene uncharacterized LOC105371992 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's syndrome
MedGen: C0220666 OMIM: 114300 GeneReviews: Not available
Compare labs
Marden-Walker syndrome
MedGen: C0796033 OMIM: 248700 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

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

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
piezo-type mechanosensitive ion channel component 2
Names
PIEZO2 variant 16
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)

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
    5001..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
  2. 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
    Q9H5I5
    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: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    10670237..11149585 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

  2. XM_011525725.3XP_011524027.1  piezo-type mechanosensitive ion channel component 2 isoform X4

    Conserved Domains (2) summary
    pfam12166
    Location:23542763
    Piezo_RRas_bdg; Piezo non-specific cation channel, R-Ras-binding domain
    pfam15917
    Location:13801611
    PIEZO; Piezo
  3. XM_011525724.3XP_011524026.1  piezo-type mechanosensitive ion channel component 2 isoform X3

    UniProtKB/Swiss-Prot
    Q9H5I5
    Related
    ENSP00000463094.1, ENST00000580640.5
    Conserved Domains (2) summary
    pfam12166
    Location:23652774
    Piezo_RRas_bdg; Piezo non-specific cation channel, R-Ras-binding domain
    pfam15917
    Location:13911622
    PIEZO; Piezo
  4. XM_011525726.3XP_011524028.1  piezo-type mechanosensitive ion channel component 2 isoform X5

    Conserved Domains (2) summary
    pfam12166
    Location:23232732
    Piezo_RRas_bdg; Piezo non-specific cation channel, R-Ras-binding domain
    pfam15917
    Location:14101641
    PIEZO; Piezo
  5. XM_011525723.3XP_011524025.1  piezo-type mechanosensitive ion channel component 2 isoform X1

    Conserved Domains (2) summary
    pfam12166
    Location:23842793
    Piezo_RRas_bdg; Piezo non-specific cation channel, R-Ras-binding domain
    pfam15917
    Location:14101641
    PIEZO; Piezo

RNA

  1. XR_001753259.2 RNA Sequence

    Related
    ENST00000582913.5

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.
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