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Aliases for MIR4722 Gene

Subcategory (RNA class) for MIR4722 Gene

miRNA

Quality Score for this RNA gene is

3

Aliases for MIR4722 Gene

  • MicroRNA 4722 2 3
  • PIEZO1 4 5
  • Piezo Type Mechanosensitive Ion Channel Component 1 5
  • Membrane Protein Induced By Beta-Amyloid Treatment 4
  • Protein FAM38A 4
  • Hsa-Mir-4722 3
  • KIAA0233 4
  • FAM38A 4
  • MIB 4

External Ids for MIR4722 Gene

Previous GeneCards Identifiers for MIR4722 Gene

  • GC16U901342

Summaries for MIR4722 Gene

Entrez Gene Summary for MIR4722 Gene

  • microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]

GeneCards Summary for MIR4722 Gene

MIR4722 (MicroRNA 4722) is an RNA Gene, and is affiliated with the miRNA class. Diseases associated with MIR4722 include Immune Hydrops Fetalis. An important paralog of this gene is PIEZO2.

UniProtKB/Swiss-Prot for MIR4722 Gene

  • Pore-forming subunit of a mechanosensitive non-specific cation channel (PubMed:23479567, PubMed:23695678). Generates currents characterized by a linear current-voltage relationship that are sensitive to ruthenium red and gadolinium. Plays a key role in epithelial cell adhesion by maintaining integrin activation through R-Ras recruitment to the ER, most probably in its activated state, and subsequent stimulation of calpain signaling (PubMed:20016066). In the kidney, may contribute to the detection of intraluminal pressure changes and to urine flow sensing. Acts as shear-stress sensor that promotes endothelial cell organization and alignment in the direction of blood flow through calpain activation (PubMed:25119035). Plays a key role in blood vessel formation and vascular structure in both development and adult physiology (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MIR4722 Gene

Genomics for MIR4722 Gene

Regulatory Elements for MIR4722 Gene

Enhancers for MIR4722 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
GH16F088761 1 Ensembl ENCODE 13 +21.5 21483 3.9 PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF48 SLC30A9 GATA2 ZNF143 FOS PIEZO1 MIR4722 CTU2 ENSG00000259877 LOC339059
GH16F088758 1.1 Ensembl ENCODE 12.9 +25.7 25711 3.0 PKNOX1 ARID4B DMAP1 ZNF48 SLC30A9 ZNF143 SP5 ZHX2 MXD4 MIER2 PIEZO1 MIR4722 ZNF778 RNF166 LOC339059
GH16F088753 1 Ensembl ENCODE 12.9 +30.3 30337 3.5 CTCF KLF1 ARID4B SIN3A ZBTB40 RAD21 ZNF121 ZNF335 E2F1 ZFHX2 PIEZO1 MIR4722 PABPN1L CDK10 SNAI3-AS1 RNF166 GALNS LOC339059
GH16F089216 0.6 ENCODE 11.7 -432.1 -432103 2.6 PKNOX1 ARNT CREB3L1 MLX WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ENSG00000259877 CDK10 TRAPPC2L MIR4722 PIEZO1 CTU2 AFG3L1P SNORD68 MC1R SLC22A31
GH16F088779 1 FANTOM5 ENCODE 0.8 +2.5 2455 6.7 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 APRT SNORD68 CDT1 GALNS TRAPPC2L RPL13 RNF166 CYBA ENSG00000260121 CDK10
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MIR4722 on UCSC Golden Path with GeneCards custom track

Promoters for MIR4722 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001034787 511 2601 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZNF143 ZNF207 FOS KLF13 ZNF263

Genomic Location for MIR4722 Gene

Chromosome:
16
Start:
88,715,343 bp from pter
End:
88,785,211 bp from pter
Size:
69,869 bases
Orientation:
Minus strand

Genomic View for MIR4722 Gene

Genes around MIR4722 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MIR4722 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MIR4722 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MIR4722 Gene

Proteins for MIR4722 Gene

  • Protein details for MIR4722 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92508-PIEZ1_HUMAN
    Recommended name:
    Piezo-type mechanosensitive ion channel component 1
    Protein Accession:
    Q92508
    Secondary Accessions:
    • A6NHT9
    • A7E2B7
    • Q0KKZ9

    Protein attributes for MIR4722 Gene

    Size:
    2521 amino acids
    Molecular mass:
    286790 Da
    Quaternary structure:
    • Homotrimer. Interacts with PKD2. Interacts with STOML3.
    • Homotrimer. Interacts with PKD2. Interacts with STOML3.
    Miscellaneous:
    • Piezo comes from the Greek piesi meaning pressure.

neXtProt entry for MIR4722 Gene

Post-translational modifications for MIR4722 Gene

  • Ubiquitination at Lys 113, Lys 1334, Lys 1953, and Lys 2372
  • Modification sites at PhosphoSitePlus

Other Protein References for MIR4722 Gene

No data available for DME Specific Peptides for MIR4722 Gene

Domains & Families for MIR4722 Gene

Gene Families for MIR4722 Gene

Protein Domains for MIR4722 Gene

Graphical View of Domain Structure for InterPro Entry

Q92508

UniProtKB/Swiss-Prot:

PIEZ1_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 MIR4722: view

No data available for Suggested Antigen Peptide Sequences for MIR4722 Gene

Function for MIR4722 Gene

Molecular function for MIR4722 Gene

UniProtKB/Swiss-Prot Function:
Pore-forming subunit of a mechanosensitive non-specific cation channel (PubMed:23479567, PubMed:23695678). Generates currents characterized by a linear current-voltage relationship that are sensitive to ruthenium red and gadolinium. Plays a key role in epithelial cell adhesion by maintaining integrin activation through R-Ras recruitment to the ER, most probably in its activated state, and subsequent stimulation of calpain signaling (PubMed:20016066). In the kidney, may contribute to the detection of intraluminal pressure changes and to urine flow sensing. Acts as shear-stress sensor that promotes endothelial cell organization and alignment in the direction of blood flow through calpain activation (PubMed:25119035). Plays a key role in blood vessel formation and vascular structure in both development and adult physiology (By similarity).

Gene Ontology (GO) - Molecular Function for MIR4722 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008381 mechanically-gated ion channel activity IEA --
genes like me logo Genes that share ontologies with MIR4722: view

Animal Model Products

miRNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MIR4722 Gene

Localization for MIR4722 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MIR4722 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane. Cell membrane; Multi-pass membrane protein. Cell projection, lamellipodium membrane. Note=In erythrocytes, located in the plasma membrane (PubMed:22529292, PubMed:23479567). Accumulates at the leading apical lamellipodia of endothelial cells in response to shear stress (PubMed:25119035). {ECO:0000269 PubMed:22529292, ECO:0000269 PubMed:23479567, ECO:0000269 PubMed:25119035}.

Gene Ontology (GO) - Cellular Components for MIR4722 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MIR4722: view

No data available for Subcellular locations from COMPARTMENTS for MIR4722 Gene

Pathways & Interactions for MIR4722 Gene

SuperPathways for MIR4722 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MIR4722 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006812 cation transport ISS --
GO:0033625 positive regulation of integrin activation IMP --
GO:0033634 positive regulation of cell-cell adhesion mediated by integrin IMP --
genes like me logo Genes that share ontologies with MIR4722: view

No data available for Pathways by source and SIGNOR curated interactions for MIR4722 Gene

Transcripts for MIR4722 Gene

mRNA/cDNA for MIR4722 Gene

(16) Ensembl transcripts including schematic representations, and UCSC links where relevant :

miRNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MIR4722 Gene

No ASD Table

Relevant External Links for MIR4722 Gene

GeneLoc Exon Structure for
MIR4722
ECgene alternative splicing isoforms for
MIR4722

Expression for MIR4722 Gene

mRNA expression in normal human tissues for MIR4722 Gene

NURSA nuclear receptor signaling pathways regulating expression of MIR4722 Gene:

MIR4722

mRNA Expression by UniProt/SwissProt for MIR4722 Gene:

Q92508-PIEZ1_HUMAN
Tissue specificity: Expressed in numerous tissues. In normal brain, expressed exclusively in neurons, not in astrocytes. In Alzheimer disease brains, expressed in about half of the activated astrocytes located around classical senile plaques. In Parkinson disease substantia nigra, not detected in melanin-containing neurons nor in activated astrocytes. Expressed in erythrocytes (at protein level).
genes like me logo Genes that share expression patterns with MIR4722: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for MIR4722 Gene

Orthologs for MIR4722 Gene

This gene was present in the common ancestor of animals.

Orthologs for MIR4722 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PIEZO1 35
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 87 (a)
OneToMany
-- 35
  • 66 (a)
OneToMany
-- 35
  • 62 (a)
OneToMany
dog
(Canis familiaris)
Mammalia PIEZO1 35
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Piezo1 35
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PIEZO1 35
  • 74 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PIEZO1 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIEZO1 35
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIEZO1 35
  • 60 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii piezo1 35
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG41056 35
  • 29 (a)
ManyToMany
Piezo 35
  • 23 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea T20D3.11 35
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 31 (a)
ManyToMany
Species where no ortholog for MIR4722 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for MIR4722 Gene

ENSEMBL:
Gene Tree for MIR4722 (if available)
TreeFam:
Gene Tree for MIR4722 (if available)

Paralogs for MIR4722 Gene

Paralogs for MIR4722 Gene

genes like me logo Genes that share paralogs with MIR4722: view

Variants for MIR4722 Gene

Sequence variations from dbSNP and Humsavar for MIR4722 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs370296725 Pathogenic 88,717,172(+) CTTGA(C/T)GATCT upstream-variant-2KB, reference, missense
rs587776987 Pathogenic 88,716,885(+) CGCTC(A/C)TGGTG upstream-variant-2KB, reference, missense
rs587776988 Pathogenic 88,715,804(+) ATCCG(C/T)GCACG downstream-variant-500B, reference, missense
rs869025598 Pathogenic 88,716,877(-) GCGCC(C/T)AGCAG upstream-variant-2KB, reference, stop-gained
rs869025601 Pathogenic 88,715,960(-) CCCAC(C/T)GAGCC downstream-variant-500B, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MIR4722 Gene

Variant ID Type Subtype PubMed ID
dgv3064n100 CNV gain 25217958
dgv3065n100 CNV gain 25217958
nsv1061256 CNV gain 25217958
nsv1063024 CNV gain 25217958
nsv1065973 CNV loss 25217958
nsv1160442 CNV deletion 26073780
nsv1927 CNV insertion 18451855
nsv471113 CNV loss 18288195
nsv471114 CNV gain 18288195
nsv482951 CNV loss 15286789
nsv517643 CNV loss 19592680
nsv833327 CNV loss 17160897
nsv952070 CNV deletion 24416366

Relevant External Links for MIR4722 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MIR4722

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for MIR4722 Gene

Disorders for MIR4722 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MIR4722 Gene - From: GeneCards

Disorder Aliases PubMed IDs
immune hydrops fetalis
  • ihf
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PIEZ1_HUMAN
  • Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1) [MIM:194380]: An autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. DHS erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. DHS patients typically exhibit mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration. Patients may also show perinatal edema and pseudohyperkalemia due to loss of potassium from red cells stored at room temperature. A minor proportion of red cells appear as stomatocytes on blood films. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. The course of DHS is frequently associated with iron overload, which may lead to hepatosiderosis. {ECO:0000269 PubMed:22529292, ECO:0000269 PubMed:23479567, ECO:0000269 PubMed:23487776, ECO:0000269 PubMed:23581886, ECO:0000269 PubMed:23695678, ECO:0000269 PubMed:23973043}. Note=The disease is caused by mutations affecting the gene represented in this entry. All disease-causing mutations characterized so far produce a gain-of-function phenotype, mutated channels exhibiting increased cation transport in erythroid cells, that could be due to slower channel inactivation rate compared to the wild-type protein.
  • Lymphedema, hereditary, 3 (LMPH3) [MIM:616843]: A severe form of lymphedema, a chronic disabling condition which results in swelling of the extremities due to altered lymphatic flow. Patients with lymphedema suffer from recurrent local infections, and physical impairment. LMPH3 manifests as generalized lymphatic dysplasia, characterized by uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions, and with a high incidence of non-immune hydrops fetalis. {ECO:0000269 PubMed:26333996}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MIR4722

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MIR4722
genes like me logo Genes that share disorders with MIR4722: view

No data available for Genatlas for MIR4722 Gene

Publications for MIR4722 Gene

  1. Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis. (PMID: 26333996) Fotiou E. … Ostergaard P. (Nat Commun 2015) 4 64
  2. Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops. (PMID: 23581886) Beneteau C. … Le Caignec C. (Clin. Genet. 2014) 4 64
  3. Dehydrated stomatocytic anemia due to the heterozygous mutation R2456H in the mechanosensitive cation channel PIEZO1: a case report. (PMID: 23973043) Shmukler B.E. … Alper S.L. (Blood Cells Mol. Dis. 2014) 4 64
  4. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y. … Zou H. (J. Proteomics 2014) 4 64
  5. Piezo1 integration of vascular architecture with physiological force. (PMID: 25119035) Li J. … Beech D.J. (Nature 2014) 4 64

Products for MIR4722 Gene

Sources for MIR4722 Gene

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