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Aliases for PIEZO2 Gene

Aliases for PIEZO2 Gene

  • Piezo Type Mechanosensitive Ion Channel Component 2 2 3
  • Piezo-Type Mechanosensitive Ion Channel Component 2 2 5
  • C18orf30 3 4
  • C18orf58 3 4
  • FAM38B 3 4
  • Piezo-Type Mechanosensitive Ion Channel Component 1 Pseudogene 3
  • Family With Sequence Similarity 38, Member A Pseudogene 3
  • Family With Sequence Similarity 38, Member B2 3
  • Family With Sequence Similarity 38, Member B 2
  • Chromosome 18 Open Reading Frame 30 2
  • Chromosome 18 Open Reading Frame 58 2
  • Protein PIEZO2 3
  • Protein FAM38B 4
  • FAM38B2 3
  • HsT748 3
  • HsT771 3
  • MWKS 3
  • DA3 3
  • DA5 3

External Ids for PIEZO2 Gene

Previous HGNC Symbols for PIEZO2 Gene

  • FAM38B2
  • C18orf30
  • C18orf58
  • FAM38B

Summaries for PIEZO2 Gene

Entrez Gene Summary for PIEZO2 Gene

  • 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]

GeneCards Summary for PIEZO2 Gene

PIEZO2 (Piezo Type Mechanosensitive Ion Channel Component 2) is a Protein Coding gene. Diseases associated with PIEZO2 include marden-walker syndrome and arthrogryposis, distal, type 3. GO annotations related to this gene include cation channel activity and mechanically-gated ion channel activity. An important paralog of this gene is PIEZO1.

UniProtKB/Swiss-Prot for PIEZO2 Gene

  • Component of a mechanosensitive channel required for rapidly adapting mechanically activated (MA) currents. Required for Merkel-cell mechanotransduction. Plays a major role in light-touch mechanosensation.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIEZO2 Gene

Genomics for PIEZO2 Gene

Regulatory Elements for PIEZO2 Gene

Promoters for PIEZO2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PIEZO2 on UCSC Golden Path with GeneCards custom track

Genomic Location for PIEZO2 Gene

Chromosome:
18
Start:
10,666,483 bp from pter
End:
11,148,762 bp from pter
Size:
482,280 bases
Orientation:
Minus strand

Genomic View for PIEZO2 Gene

Genes around PIEZO2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIEZO2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIEZO2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIEZO2 Gene

Proteins for PIEZO2 Gene

  • Protein details for PIEZO2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H5I5-PIEZ2_HUMAN
    Recommended name:
    Piezo-type mechanosensitive ion channel component 2
    Protein Accession:
    Q9H5I5
    Secondary Accessions:
    • B7Z812
    • M4GPJ9
    • Q6ZS91
    • Q8N787
    • Q8NAR6
    • Q9H5R4

    Protein attributes for PIEZO2 Gene

    Size:
    2752 amino acids
    Molecular mass:
    318064 Da
    Quaternary structure:
    • Homooligomer, most likely homotetramer. Interacts with STOML3.
    Miscellaneous:
    • Piezo comes from the Greek piesi meaning pressure.
    SequenceCaution:
    • Sequence=BAB15556.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15556.1; Type=Erroneous termination; Positions=2718; Note=Translated as Arg.; Evidence={ECO:0000305}; Sequence=BAB15641.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC03832.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO:0000305}; Sequence=BAC05412.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC05412.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence at the 3end. Probable cloning artifact.; Evidence={ECO:0000305};

    Alternative splice isoforms for PIEZO2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIEZO2 Gene

Proteomics data for PIEZO2 Gene at MOPED

Post-translational modifications for PIEZO2 Gene

  • Glycosylation at Asn 95, Asn 1013, and Asn 1085
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PIEZO2 Gene

Domains & Families for PIEZO2 Gene

Protein Domains for PIEZO2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PIEZO2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H5I5

UniProtKB/Swiss-Prot:

PIEZ2_HUMAN :
  • Belongs to the PIEZO (TC 1.A.75) family.
Family:
  • Belongs to the PIEZO (TC 1.A.75) family.
genes like me logo Genes that share domains with PIEZO2: view

No data available for Gene Families for PIEZO2 Gene

Function for PIEZO2 Gene

Molecular function for PIEZO2 Gene

UniProtKB/Swiss-Prot Function:
Component of a mechanosensitive channel required for rapidly adapting mechanically activated (MA) currents. Required for Merkel-cell mechanotransduction. Plays a major role in light-touch mechanosensation.
genes like me logo Genes that share phenotypes with PIEZO2: view

Human Phenotype Ontology for PIEZO2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PIEZO2 Gene

MGI Knock Outs for PIEZO2:

Animal Model Products

miRNA for PIEZO2 Gene

miRTarBase miRNAs that target PIEZO2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for PIEZO2 Gene

Localization for PIEZO2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIEZO2 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PIEZO2 Gene COMPARTMENTS Subcellular localization image for PIEZO2 gene
Compartment Confidence
plasma membrane 3

No data available for Gene Ontology (GO) - Cellular Components for PIEZO2 Gene

Pathways & Interactions for PIEZO2 Gene

SuperPathways for PIEZO2 Gene

No Data Available

Interacting Proteins for PIEZO2 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000463094%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000463094 for PIEZO2 Gene via STRING

Symbol External ID(s) Details
UBC

Gene Ontology (GO) - Biological Process for PIEZO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006812 cation transport ISS --
GO:0009612 response to mechanical stimulus ISS --
genes like me logo Genes that share ontologies with PIEZO2: view

No data available for Pathways by source and SIGNOR curated interactions for PIEZO2 Gene

Drugs & Compounds for PIEZO2 Gene

No Compound Related Data Available

Transcripts for PIEZO2 Gene

Unigene Clusters for PIEZO2 Gene

Piezo-type mechanosensitive ion channel component 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PIEZO2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b
SP1: -
SP2:
SP3: - -
SP4:

Relevant External Links for PIEZO2 Gene

GeneLoc Exon Structure for
PIEZO2
ECgene alternative splicing isoforms for
PIEZO2

Expression for PIEZO2 Gene

mRNA expression in normal human tissues for PIEZO2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PIEZO2 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x5.7) and Brain - Substantia nigra (x4.2).

Protein differential expression in normal tissues from HIPED for PIEZO2 Gene

This gene is overexpressed in Pancreas (36.7), Liver (18.6), and Lung (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PIEZO2 Gene



SOURCE GeneReport for Unigene cluster for PIEZO2 Gene Hs.436902

genes like me logo Genes that share expression patterns with PIEZO2: view

Protein tissue co-expression partners for PIEZO2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for PIEZO2 Gene

Orthologs for PIEZO2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PIEZO2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PIEZO2 36
  • 99 (a)
OneToOne
PIEZO2 35
  • 98.45 (n)
  • 98.51 (a)
cow
(Bos Taurus)
Mammalia PIEZO2 35
  • 85.69 (n)
  • 92.46 (a)
PIEZO2 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PIEZO2 36
  • 86 (a)
OneToOne
PIEZO2 35
  • 89.16 (n)
  • 92.18 (a)
mouse
(Mus musculus)
Mammalia Piezo2 16
Piezo2 36
  • 87 (a)
OneToOne
Piezo2 35
  • 84.21 (n)
  • 90.59 (a)
oppossum
(Monodelphis domestica)
Mammalia PIEZO2 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIEZO2 36
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Piezo2 35
  • 84.94 (n)
  • 90.91 (a)
chicken
(Gallus gallus)
Aves FAM38B 35
  • 76.23 (n)
  • 80.63 (a)
PIEZO2 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIEZO2 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia piezo2 35
  • 71.3 (n)
  • 76.2 (a)
zebrafish
(Danio rerio)
Actinopterygii CABZ01048021.1 36
  • 64 (a)
OneToMany
PIEZO2 (1 of 5) 36
  • 69 (a)
OneToMany
PIEZO2 (2 of 5) 36
  • 58 (a)
OneToMany
PIEZO2 (3 of 5) 36
  • 59 (a)
OneToMany
PIEZO2 (4 of 5) 36
  • 68 (a)
OneToMany
LOC100534973 35
  • 65.82 (n)
  • 65.96 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009276 35
  • 48.91 (n)
  • 37.9 (a)
fruit fly
(Drosophila melanogaster)
Insecta Piezo 35
  • 44.9 (n)
  • 32.41 (a)
CG40188 36
  • 25 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea T20D3.11 35
  • 46.88 (n)
  • 34.41 (a)
T20D3.11 36
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 42 (a)
ManyToMany
Species with no ortholog for PIEZO2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PIEZO2 Gene

ENSEMBL:
Gene Tree for PIEZO2 (if available)
TreeFam:
Gene Tree for PIEZO2 (if available)

Paralogs for PIEZO2 Gene

Paralogs for PIEZO2 Gene

(2) SIMAP similar genes for PIEZO2 Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for PIEZO2 Gene

genes like me logo Genes that share paralogs with PIEZO2: view

Variants for PIEZO2 Gene

Sequence variations from dbSNP and Humsavar for PIEZO2 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs3748428 - 10,681,714(-) TGAAA(A/G)TTATG reference, missense
VAR_070938 Arthrogryposis, distal, 5 (DA5)
rs7234309 - 10,752,668(+) AAAAA(C/T)GTTGT reference, missense
VAR_071302 Marden-Walker syndrome (MWKS)
VAR_071303 Arthrogryposis, distal, 3 (DA3)

Structural Variations from Database of Genomic Variants (DGV) for PIEZO2 Gene

Variant ID Type Subtype PubMed ID
nsv909371 CNV Gain 21882294
esv2675075 CNV Deletion 23128226
nsv2203 CNV Insertion 18451855
nsv833588 CNV Gain 17160897
esv29564 CNV Gain 19812545
esv2716791 CNV Deletion 23290073
esv2260074 CNV Deletion 18987734
nsv828178 CNV Gain 20364138
nsv470408 CNV Gain 18288195
nsv458028 CNV Gain 19166990
nsv458029 CNV Gain 19166990
nsv909372 CNV Gain 21882294
nsv828179 CNV Gain 20364138
esv267768 CNV Insertion 20981092
nsv909373 CNV Loss 21882294
esv1115779 CNV Insertion 17803354
dgv3384n71 CNV Loss 21882294
esv2716792 CNV Deletion 23290073
esv2716793 CNV Deletion 23290073
nsv909377 CNV Loss 21882294
nsv909380 CNV Loss 21882294
esv2716794 CNV Deletion 23290073
esv1001413 CNV Deletion 20482838
esv2716796 CNV Deletion 23290073
nsv131984 CNV Loss 16902084

Variation tolerance for PIEZO2 Gene

Gene Damage Index Score: 20.76; 99.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PIEZO2 Gene

HapMap Linkage Disequilibrium report
PIEZO2
Human Gene Mutation Database (HGMD)
PIEZO2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIEZO2 Gene

Disorders for PIEZO2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for PIEZO2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
marden-walker syndrome
  • connective tissue disorder marden walker type
arthrogryposis, distal, type 3
  • gordon syndrome
arthrogryposis, distal, type 5
  • distal arthrogryposis type 5
distal arthrogryposis
  • arthrogryposis, distal, type 2b
arthrogryposis, distal, type 5d
  • da5d
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PIEZ2_HUMAN
  • Arthrogryposis, distal, 5 (DA5) [MIM:108145]: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA5 features include ocular abnormalities, typically ptosis, ophthalmoplegia and/or strabismus, in addition to contractures of the skeletal muscles. Some patients have pulmonary hypertension as a result of restrictive lung disease. {ECO:0000269 PubMed:23487782}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Arthrogryposis, distal, 3 (DA3) [MIM:114300]: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA3 features include short stature and cleft palate. {ECO:0000269 PubMed:24726473}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Marden-Walker syndrome (MWKS) [MIM:248700]: A syndrome characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, kyphoscoliosis, pectus excavatum or carinatum, and arachnodactyly. Additional features include decreased muscular mass, failure to thrive, renal anomalies, hypoplastic corpus callosum, cerebellar vermis hypoplasia, enlarged cisterna magna, and psychomotor retardation. {ECO:0000269 PubMed:24726473}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PIEZO2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PIEZO2
genes like me logo Genes that share disorders with PIEZO2: view

No data available for Genatlas for PIEZO2 Gene

Publications for PIEZO2 Gene

  1. Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. (PMID: 24726473) McMillin M.J. … Bamshad M.J. (Am. J. Hum. Genet. 2014) 3 4 67
  2. [Feeling the pressure? Identification of two proteins activated by mechanical forces]. (PMID: 21299953) Coste B. (Med Sci (Paris) 2011) 2 3
  3. Mechanosensitive channels: in touch with Piezo. (PMID: 21056836) Xiao R. … Xu X.Z. (Curr. Biol. 2010) 2 3
  4. Piezo1 and Piezo2 are essential components of distinct mechanically activated cation channels. (PMID: 20813920) Coste B. … Patapoutian A. (Science 2010) 2 3
  5. A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation. (PMID: 25712306) Okubo M. … Sasaki M. (Am. J. Med. Genet. A 2015) 3

Products for PIEZO2 Gene

Sources for PIEZO2 Gene

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