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Aliases for PIEZO2 Gene

Aliases for PIEZO2 Gene

  • Piezo Type Mechanosensitive Ion Channel Component 2 2 3 5
  • Piezo-Type Mechanosensitive Ion Channel Component 2 2 3
  • 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
  • DAIPT 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 CIViC summary , 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

Enhancers for PIEZO2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18G010925 1.4 Ensembl ENCODE dbSUPER 11.3 +220.7 220749 5.7 TBP PKNOX1 TBL1XR1 WRNIP1 SIN3A BMI1 EGR1 GATA2 CBX5 FOS PIEZO2 GC18P010927 PIR57745
GH18G010912 1.2 Ensembl ENCODE dbSUPER 10.6 +235.4 235407 2.2 SOX5 GATAD2A TFE3 TEAD1 MLX NFIA TEAD3 MAFF ZNF692 SMARCA4 PIEZO2 GC18P010927 ENSG00000263952
GH18G010851 1.1 FANTOM5 ENCODE 11.2 +296.8 296841 1.6 CTCF PKNOX1 FOXA2 ZNF384 RAD21 RFX5 YY1 CBX5 ZNF143 SMC3 PIEZO2 GC18M010859 GC18M010801
GH18G011119 1 ENCODE 11.2 +28.0 27973 3.0 FOXA2 MLX ARID4B DMAP1 BRCA1 YY1 SLC30A9 FOS DEK PPARG PIEZO2 GC18P011134 LOC105371992
GH18G011077 0.8 ENCODE 11.2 +70.2 70212 1.9 HDGF PKNOX1 ZSCAN4 BACH1 BMI1 YBX1 EBF1 ZNF776 ZFHX2 EED PIEZO2 GC18M010890 LOC105371992
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PIEZO2 on UCSC Golden Path with GeneCards custom track

Promoters for PIEZO2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000100826 -638 801 ELF3 TBP PKNOX1 ZNF48 RAD21 ZNF335 ZNF207 ETV6 IKZF2 THAP11

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

Post-translational modifications for PIEZO2 Gene

  • Glycosylation at posLast=9595, Asn1013, and posLast=10851085
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PIEZO2 Gene

Domains & Families for PIEZO2 Gene

Protein Domains for PIEZO2 Gene

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.

Gene Ontology (GO) - Molecular Function for PIEZO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005261 cation channel activity IBA --
GO:0008381 mechanically-gated ion channel activity IBA,IEA --
genes like me logo Genes that share ontologies with PIEZO2: view
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

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PIEZO2 gene
Compartment Confidence
plasma membrane 5
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for PIEZO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PIEZO2: view

Pathways & Interactions for PIEZO2 Gene

SuperPathways for PIEZO2 Gene

No Data Available

Interacting Proteins for PIEZO2 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000463094%0d%0a9606.ENSP00000325296%0d%0a9606.ENSP00000237596%0d%0a
Selected Interacting proteins: ENSP00000463094 for PIEZO2 Gene via STRING

Gene Ontology (GO) - Biological Process for PIEZO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006812 cation transport ISS --
GO:0009612 response to mechanical stimulus ISS --
GO:0034220 ion transmembrane transport IEA --
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:

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for PIEZO2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PIEZO2 Gene:

PIEZO2

SOURCE GeneReport for Unigene cluster for PIEZO2 Gene:

Hs.436902

Evidence on tissue expression from TISSUES for PIEZO2 Gene

  • Nervous system(4.5)
  • Blood(2.8)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PIEZO2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • ovary
  • pelvis
  • penis
  • testicle
  • urethra
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • lymph node
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with PIEZO2: view

Primer 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 34 35
  • 98.45 (n)
dog
(Canis familiaris)
Mammalia PIEZO2 34 35
  • 89.16 (n)
cow
(Bos Taurus)
Mammalia PIEZO2 34 35
  • 85.69 (n)
rat
(Rattus norvegicus)
Mammalia Piezo2 34
  • 84.94 (n)
mouse
(Mus musculus)
Mammalia Piezo2 34 16 35
  • 84.21 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PIEZO2 35
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PIEZO2 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIEZO2 35
  • 77 (a)
OneToOne
FAM38B 34
  • 76.23 (n)
lizard
(Anolis carolinensis)
Reptilia PIEZO2 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia piezo2 34
  • 71.3 (n)
zebrafish
(Danio rerio)
Actinopterygii PIEZO2 (1 of 5) 35
  • 69 (a)
OneToMany
PIEZO2 (4 of 5) 35
  • 68 (a)
OneToMany
LOC100534973 34
  • 65.82 (n)
CABZ01048021.1 35
  • 64 (a)
OneToMany
PIEZO2 (3 of 5) 35
  • 59 (a)
OneToMany
PIEZO2 (2 of 5) 35
  • 58 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009276 34
  • 48.91 (n)
fruit fly
(Drosophila melanogaster)
Insecta Piezo 34
  • 44.9 (n)
CG40188 35
  • 25 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea T20D3.11 34 35
  • 46.88 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 42 (a)
ManyToMany
Species where no ortholog for PIEZO2 was found in the sources mined by GeneCards:
  • 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
rs587777076 Pathogenic, Arthrogryposis, distal, 5 (DA5) [MIM:108145] 10,784,872(+) TAAAA(A/T)GCACA nc-transcript-variant, reference, missense
rs587777450 Pathogenic, Arthrogryposis, distal, 3 (DA3) [MIM:114300] 10,671,729(+) ATTCA(C/T)GGACA reference, missense
rs587777451 Pathogenic, Marden-Walker syndrome (MWKS) [MIM:248700] 10,671,730(+) TTCAC(A/G)GACAA reference, missense
rs587777452 Pathogenic, Arthrogryposis, distal, 5 (DA5) [MIM:108145], Arthrogryposis, distal, 5 (DA5) [MIM:108145] 10,671,633(+) TCTCT(A/C/G)GAACT reference, missense
rs587777453 Pathogenic, Arthrogryposis, distal, 5 (DA5) [MIM:108145] 10,789,114(+) CACCA(C/T)GTAGA nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv1551n106 CNV deletion 24896259
dgv973e212 CNV loss 25503493
esv1001413 CNV deletion 20482838
esv1115779 CNV insertion 17803354
esv2260074 CNV deletion 18987734
esv2675075 CNV deletion 23128226
esv2716791 CNV deletion 23290073
esv2716792 CNV deletion 23290073
esv2716793 CNV deletion 23290073
esv2716794 CNV deletion 23290073
esv2716796 CNV deletion 23290073
esv2761991 CNV gain 21179565
esv29564 CNV gain 19812545
esv3303489 CNV mobile element insertion 20981092
esv3349337 CNV insertion 20981092
esv3350647 CNV insertion 20981092
esv3431142 CNV duplication 20981092
esv3555056 CNV deletion 23714750
esv3582972 CNV loss 25503493
esv3641779 CNV loss 21293372
esv3641783 CNV loss 21293372
esv3641788 CNV loss 21293372
esv3893074 CNV loss 25118596
nsv1057995 CNV gain 25217958
nsv1060593 CNV gain 25217958
nsv1071094 CNV deletion 25765185
nsv1072775 CNV deletion 25765185
nsv1109119 CNV deletion 24896259
nsv1109120 CNV deletion 24896259
nsv1116251 CNV deletion 24896259
nsv1127613 CNV deletion 24896259
nsv1129331 OTHER inversion 24896259
nsv1130584 CNV deletion 24896259
nsv1139683 CNV duplication 24896259
nsv1143574 CNV deletion 24896259
nsv1152869 CNV deletion 26484159
nsv1153637 OTHER inversion 26484159
nsv131984 CNV deletion 16902084
nsv2203 CNV insertion 18451855
nsv458028 CNV gain 19166990
nsv458029 CNV gain 19166990
nsv470408 CNV gain 18288195
nsv576477 CNV gain 21841781
nsv576478 CNV loss 21841781
nsv576479 CNV gain 21841781
nsv576480 CNV gain 21841781
nsv576481 CNV loss 21841781
nsv828178 CNV gain 20364138
nsv828179 CNV gain 20364138
nsv833588 CNV gain 17160897
nsv960650 CNV duplication 23825009

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

Human Gene Mutation Database (HGMD)
PIEZO2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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, DISEASES, 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
arthrogryposis, distal, with impaired proprioception and touch
  • daipt
arthrogryposis multiple congenita, ophthalmoplegia, ptosis
  • oculomelic amyoplasia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PIEZ2_HUMAN
  • 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.
  • 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, ECO:0000269 PubMed:24726473}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Arthrogryposis, distal, with impaired proprioception and touch (DAIPT) [MIM:617146]: 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. DAIPT is an autosomal recessive disease characterized by selective loss of discriminative touch perception, ataxia, difficulty walking, dysmetria, and progressive skeletal contractures. {ECO:0000269 PubMed:27607563, ECO:0000269 PubMed:27653382}. 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. The Role of PIEZO2 in Human Mechanosensation. (PMID: 27653382) Chesler A.T. … Boennemann C.G. (N. Engl. J. Med. 2016) 3 4 64
  2. 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 64
  3. Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. (PMID: 23487782) Coste B. … Patapoutian A. (Proc. Natl. Acad. Sci. U.S.A. 2013) 3 4 64
  4. [Feeling the pressure? Identification of two proteins activated by mechanical forces]. (PMID: 21299953) Coste B. (Med Sci (Paris) 2011) 2 3 64
  5. Piezo1 and Piezo2 are essential components of distinct mechanically activated cation channels. (PMID: 20813920) Coste B. … Patapoutian A. (Science 2010) 2 3 64

Products for PIEZO2 Gene

Sources for PIEZO2 Gene

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