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Aliases for PTPRQ Gene

Aliases for PTPRQ Gene

  • Protein Tyrosine Phosphatase, Receptor Type, Q 2 3
  • EC 3.1.3.48 4 64
  • DFNB84A 3 6
  • PTPGMC1 3 6
  • R-PTP-Q 3 4
  • Protein-Tyrosine Phosphatase, Receptor-Type, Expressed By Glomerular Mesangial Cells 3
  • Receptor-Type Tyrosine-Protein Phosphatase Q 4
  • Phosphatidylinositol Phosphatase PTPRQ 3
  • Phosphotidylinositol Phosphatase PTPRQ 3
  • Deafness, Autosomal Recessive 84 2
  • EC 1.1.1.86 64
  • EC 3.1.3.- 4
  • DFNB84 3
  • PTP-RQ 4

External Ids for PTPRQ Gene

Previous Symbols for PTPRQ Gene

  • DFNB84

Summaries for PTPRQ Gene

Entrez Gene Summary for PTPRQ Gene

  • This locus encodes a member of the type III receptor-like protein-tyrosine phosphatase family. The encoded protein catalyzes the dephosphorylation of phosphotyrosine and phosphatidylinositol and plays roles in cellular proliferation and differentiation. Mutations at this locus have been linked to autosomal recessive deafness. [provided by RefSeq, Mar 2014]

GeneCards Summary for PTPRQ Gene

PTPRQ (Protein Tyrosine Phosphatase, Receptor Type, Q) is a Protein Coding gene. Diseases associated with PTPRQ include deafness, autosomal recessive 84a and mesangial proliferative glomerulonephritis. Among its related pathways are PAK Pathway. GO annotations related to this gene include protein tyrosine phosphatase activity. An important paralog of this gene is PTPRO.

UniProtKB/Swiss-Prot for PTPRQ Gene

  • Phosphatidylinositol phosphatase required for auditory function. May act by regulating the level of phosphatidylinositol 4,5-bisphosphate (PIP2) level in the basal region of hair bundles. Can dephosphorylate a broad range of phosphatidylinositol phosphates, including phosphatidylinositol 3,4,5-trisphosphate and most phosphatidylinositol monophosphates and diphosphates. Phosphate can be hydrolyzed from the D3 and D5 positions in the inositol ring. Has low tyrosine-protein phosphatase activity; however, the relevance of such activity in vivo is unclear. Plays an important role in adipogenesis of mesenchymal stem cells (MSCs). Regulates the phosphorylation state of AKT1 by suppressing the phosphatidylinositol 3,4,5-trisphosphate (PIP3) level in MSCs and preadipocyte cells.

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

Genomics for PTPRQ Gene

Genomic Location for PTPRQ Gene

Start:
80,402,178 bp from pter
End:
80,680,234 bp from pter
Size:
278,057 bases
Orientation:
Plus strand

Genomic View for PTPRQ Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PTPRQ Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTPRQ Gene

Regulatory Elements for PTPRQ Gene

Proteins for PTPRQ Gene

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

    Protein Symbol:
    Q9UMZ3-PTPRQ_HUMAN
    Recommended name:
    Phosphatidylinositol phosphatase PTPRQ
    Protein Accession:
    Q9UMZ3
    Secondary Accessions:

    Protein attributes for PTPRQ Gene

    Size:
    2332 amino acids
    Molecular mass:
    260924 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for PTPRQ Gene

neXtProt entry for PTPRQ Gene

Proteomics data for PTPRQ Gene at MOPED

Selected DME Specific Peptides for PTPRQ Gene

Post-translational modifications for PTPRQ Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn94, Asn202, Asn394, Asn944, Asn1038, Asn1080, Asn1101, Asn1290, Asn1295, and Asn1844

Other Protein References for PTPRQ Gene

Domains for PTPRQ Gene

Gene Families for PTPRQ Gene

HGNC:
  • FN3 :Fibronectin type III domain containing
  • PTPR :Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like
IUPHAR :

UniProtKB/Swiss-Prot:

PTPRQ_HUMAN
Domain:
  • Contains 18 fibronectin type-III domains.:
    • Q9UMZ3
  • Contains 1 tyrosine-protein phosphatase domain.:
    • Q9UMZ3
Family:
  • Belongs to the protein-tyrosine phosphatase family. Receptor class 2A subfamily.:
    • Q9UMZ3
genes like me logo Genes that share domains with PTPRQ: view

Function for PTPRQ Gene

Molecular function for PTPRQ Gene

UniProtKB/Swiss-Prot CatalyticActivity: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
UniProtKB/Swiss-Prot Function: Phosphatidylinositol phosphatase required for auditory function. May act by regulating the level of phosphatidylinositol 4,5-bisphosphate (PIP2) level in the basal region of hair bundles. Can dephosphorylate a broad range of phosphatidylinositol phosphates, including phosphatidylinositol 3,4,5-trisphosphate and most phosphatidylinositol monophosphates and diphosphates. Phosphate can be hydrolyzed from the D3 and D5 positions in the inositol ring. Has low tyrosine-protein phosphatase activity; however, the relevance of such activity in vivo is unclear. Plays an important role in adipogenesis of mesenchymal stem cells (MSCs). Regulates the phosphorylation state of AKT1 by suppressing the phosphatidylinositol 3,4,5-trisphosphate (PIP3) level in MSCs and preadipocyte cells.
UniProtKB/Swiss-Prot Induction: Down-regulated during adipogenesis of mesenchymal stem cells.

Enzyme Numbers (IUBMB) for PTPRQ Gene

Gene Ontology (GO) - Molecular Function for PTPRQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004725 protein tyrosine phosphatase activity IEA --
GO:0005515 protein binding --
GO:0016791 phosphatase activity --
genes like me logo Genes that share ontologies with PTPRQ: view

Phenotypes for PTPRQ Gene

genes like me logo Genes that share phenotypes with PTPRQ: view

Animal Models for PTPRQ Gene

MGI Knock Outs for PTPRQ:

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for PTPRQ Gene

Localization for PTPRQ Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTPRQ Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for PTPRQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
GO:0032421 stereocilium bundle --
genes like me logo Genes that share ontologies with PTPRQ: view

Pathways for PTPRQ Gene

SuperPathways for PTPRQ Gene

Superpath Contained pathways
1 PAK Pathway
genes like me logo Genes that share pathways with PTPRQ: view

Pathways by source for PTPRQ Gene

1 Qiagen pathway for PTPRQ Gene

Interacting Proteins for PTPRQ Gene

Selected Interacting proteins: Q9UMZ3-PTPRQ_HUMAN for PTPRQ Gene via I2D

Gene Ontology (GO) - Biological Process for PTPRQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002244 hematopoietic progenitor cell differentiation --
GO:0006470 protein dephosphorylation --
GO:0016311 dephosphorylation --
GO:0035335 peptidyl-tyrosine dephosphorylation IEA --
GO:0042472 inner ear morphogenesis --
genes like me logo Genes that share ontologies with PTPRQ: view

Transcripts for PTPRQ Gene

mRNA/cDNA for PTPRQ Gene

(2) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PTPRQ Gene

Protein tyrosine phosphatase, receptor type, Q:
Representative Sequences:

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

No ASD Table

Relevant External Links for PTPRQ Gene

GeneLoc Exon Structure for
PTPRQ
ECgene alternative splicing isoforms for
PTPRQ

Expression for PTPRQ Gene

mRNA expression in normal human tissues for PTPRQ Gene

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

This gene is overexpressed in Bladder (8.8), Kidney - Cortex (5.5), Thyroid (5.1), and Adipose - Visceral (Omentum) (4.6).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for PTPRQ Gene

SOURCE GeneReport for Unigene cluster for PTPRQ Gene Hs.539284

mRNA Expression by UniProt/SwissProt for PTPRQ Gene

Q9UMZ3-PTPRQ_HUMAN
Tissue specificity: In developing kidney, it localizes to the basal membrane of podocytes, beginning when podocyte progenitors can first be identified in the embryonic kidney (at protein level). Expressed in lung and kidney.
genes like me logo Genes that share expressions with PTPRQ: view

Orthologs for PTPRQ Gene

This gene was present in the common ancestor of animals.

Orthologs for PTPRQ Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PTPRQ 36
  • 99.48 (n)
  • 99.04 (a)
PTPRQ 37
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PTPRQ 36
  • 90.99 (n)
  • 90.86 (a)
PTPRQ 37
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PTPRQ 36
  • 91.15 (n)
  • 90.46 (a)
PTPRQ 37
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ptprq 36
  • 85.45 (n)
  • 86.95 (a)
Ptprq 16
Ptprq 37
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PTPRQ 37
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PTPRQ 37
  • 57 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ptprq 36
  • 85.6 (n)
  • 86.64 (a)
chicken
(Gallus gallus)
Aves PTPRQ 36
  • 75.14 (n)
  • 73.44 (a)
PTPRQ 37
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PTPRQ 37
  • 66 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ptprq 36
  • 54.04 (n)
  • 48.41 (a)
ptprq 37
  • 44 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ptp52F 37
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y71G12B.31 37
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 31 (a)
OneToMany
Species with no ortholog for PTPRQ:
  • 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)
  • 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 PTPRQ Gene

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

Paralogs for PTPRQ Gene

Paralogs for PTPRQ Gene

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

Variants for PTPRQ Gene

Sequence variations from dbSNP and Humsavar for PTPRQ Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs950124 -- 80,673,072(-) TCTAA(C/T)AGTTT intron-variant
rs953308 -- 80,564,713(-) CACTT(C/T)AGTTG intron-variant
rs1153037 -- 80,670,917(+) ATATA(C/T)TTAAT intron-variant
rs1153038 -- 80,672,311(+) GGCAT(A/G)TATAT intron-variant
rs1153040 -- 80,674,141(-) TTGTG(A/T)ATATT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv832469 CNV Loss 17160897
nsv7231 OTHER Inversion 18451855
nsv470306 CNV Loss 18288195
nsv523953 CNV Gain 19592680
nsv511021 CNV Complex 20534489
dgv1464n71 CNV Loss 21882294
esv992424 OTHER Inversion 20482838
dgv13n50 OTHER Inversion 21212237
nsv499500 OTHER Inversion 21111241
esv1048560 OTHER Inversion 17803354
nsv435978 OTHER Inversion 17901297
nsv507661 CNV Insertion 20534489
nsv826450 CNV Loss 20364138
dgv1465n71 CNV Loss 21882294
esv22855 CNV Loss 19812545
nsv470307 CNV Loss 18288195
dgv207n27 CNV Loss 19166990
nsv469488 CNV Loss 19166990
esv2671829 CNV Deletion 23128226

Relevant External Links for PTPRQ Gene

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

Disorders for PTPRQ Gene

(1) OMIM Diseases for PTPRQ Gene (603317)

UniProtKB/Swiss-Prot

PTPRQ_HUMAN
  • Deafness, autosomal recessive, 84A (DFNB84A) [MIM:613391]: A form of non-syndromic deafness characterized by progressive, sensorineural hearing loss and vestibular dysfunction. {ECO:0000269 PubMed:20346435, ECO:0000269 PubMed:20472657}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PTPRQ

Genetic Association Database (GAD)
PTPRQ
Human Genome Epidemiology (HuGE) Navigator
PTPRQ
genes like me logo Genes that share disorders with PTPRQ: view

Publications for PTPRQ Gene

  1. Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. (PMID: 20346435) Schraders M. … Kremer H. (Am. J. Hum. Genet. 2010) 2 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 49
  3. Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84. (PMID: 20472657) Shahin H. … Walsh T. (J. Med. Genet. 2010) 3 4
  4. PTPRQ is a novel phosphatidylinositol phosphatase that can be expressed as a cytoplasmic protein or as a subcellularly localized receptor-like protein. (PMID: 12837292) Seifert R.A. … Bowen-Pope D.F. (Exp. Cell Res. 2003) 3 4
  5. Involvement of PTP-RQ in differentiation during adipogenesis of human mesenchymal stem cells. (PMID: 19351528) Jung H. … Lee S.C. (Biochem. Biophys. Res. Commun. 2009) 3 4

Products for PTPRQ Gene

Sources for PTPRQ Gene

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