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Aliases for PTPRQ Gene

Aliases for PTPRQ Gene

  • Protein Tyrosine Phosphatase, Receptor Type Q 2 3
  • Protein Tyrosine Phosphatase, Receptor Type, Q 3 5
  • EC 3.1.3.48 4 63
  • R-PTP-Q 3 4
  • Protein-Tyrosine Phosphatase, Receptor-Type, Expressed By Glomerular Mesangial Cells 3
  • Receptor-Type Tyrosine-Protein Phosphatase Q 4
  • Phosphotidylinositol Phosphatase PTPRQ 3
  • Deafness, Autosomal Recessive 84 2
  • EC 1.1.1.86 63
  • EC 3.1.3.- 4
  • DFNB84A 3
  • PTPGMC1 3
  • DFNB84 3
  • PTP-RQ 4

External Ids for PTPRQ Gene

Previous HGNC Symbols for PTPRQ Gene

  • DFNB84

Previous GeneCards Identifiers for PTPRQ Gene

  • GC00U990537
  • GC12P079445
  • GC12P079565
  • GC12U900531
  • GC12P079318
  • GC12P080837
  • GC12P077895

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 autosomal recessive non-syndromic sensorineural deafness type dfnb. Among its related pathways are PAK Pathway. GO annotations related to this gene include phosphatase activity and 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

Regulatory Elements for PTPRQ Gene

Enhancers for PTPRQ Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PTPRQ on UCSC Golden Path with GeneCards custom track

Genomic Location for PTPRQ Gene

Chromosome:
12
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

Genes around PTPRQ on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence 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

    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

  • Glycosylation at Asn 94, Asn 202, Asn 394, Asn 944, Asn 1038, Asn 1080, Asn 1101, Asn 1290, Asn 1295, and Asn 1844
  • Modification sites at PhosphoSitePlus

Other Protein References for PTPRQ Gene

Domains & Families for PTPRQ Gene

Suggested Antigen Peptide Sequences for PTPRQ Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UMZ3

UniProtKB/Swiss-Prot:

PTPRQ_HUMAN :
  • Contains 18 fibronectin type-III domains.
  • Belongs to the protein-tyrosine phosphatase family. Receptor class 2A subfamily.
Domain:
  • Contains 18 fibronectin type-III domains.
  • Contains 1 tyrosine-protein phosphatase domain.
Family:
  • Belongs to the protein-tyrosine phosphatase family. Receptor class 2A subfamily.
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

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

Human Phenotype Ontology for PTPRQ Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PTPRQ Gene

MGI Knock Outs for PTPRQ:

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets 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

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

Pathways & Interactions 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:0006470 protein dephosphorylation IEA --
GO:0016311 dephosphorylation IEA --
GO:0030154 cell differentiation IEA --
GO:0035335 peptidyl-tyrosine dephosphorylation IEA --
GO:0045598 regulation of fat cell differentiation IDA 19351528
genes like me logo Genes that share ontologies with PTPRQ: view

No data available for SIGNOR curated interactions for PTPRQ Gene

Drugs & Compounds for PTPRQ Gene

(2) Additional Compounds for PTPRQ Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds 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 (x8.8), Kidney - Cortex (x5.5), Thyroid (x5.1), and Adipose - Visceral (Omentum) (x4.6).

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 expression patterns with PTPRQ: view

Primer Products

In Situ Assay Products

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

Orthologs for PTPRQ Gene

This gene was present in the common ancestor of animals.

Orthologs for PTPRQ Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PTPRQ 35
  • 90.99 (n)
  • 90.86 (a)
PTPRQ 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PTPRQ 35
  • 91.15 (n)
  • 90.46 (a)
PTPRQ 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ptprq 35
  • 85.45 (n)
  • 86.95 (a)
Ptprq 16
Ptprq 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PTPRQ 35
  • 99.48 (n)
  • 99.04 (a)
PTPRQ 36
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ptprq 35
  • 85.6 (n)
  • 86.64 (a)
oppossum
(Monodelphis domestica)
Mammalia PTPRQ 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PTPRQ 36
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves PTPRQ 35
  • 75.14 (n)
  • 73.44 (a)
PTPRQ 36
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PTPRQ 36
  • 66 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ptprq 35
  • 54.04 (n)
  • 48.41 (a)
ptprq 36
  • 44 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ptp52F 36
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y71G12B.31 36
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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

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
rs12316867 - 80,539,783(+) TTTTA(C/T)ACTCC reference, missense
rs6539524 - 80,541,566(+) AAGGG(C/T)TTGTT reference, missense
rs7975340 - 80,541,632(+) CACCG(C/G)CTCAA reference, missense
rs17713202 - 80,542,247(+) CTGAT(A/G/T)ATTAC reference, missense
rs7963963 - 80,613,748(+) CCAGA(C/T)TCACA reference, missense

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

Variation tolerance for PTPRQ Gene

Gene Damage Index Score: 28.76; 99.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PTPRQ Gene

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

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

Disorders for PTPRQ Gene

MalaCards: The human disease database

(4) MalaCards diseases for PTPRQ Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 84a
  • deafness, autosomal recessive, 84a
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
dfnb84 nonsyndromic hearing loss and deafness
  • deafness, autosomal recessive 84a
atypical lipomatous tumor
  • pleomorphic lipoma
- elite association - COSMIC cancer census association via MalaCards
Search PTPRQ in MalaCards View complete list of genes associated with diseases

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

No data available for Genatlas for PTPRQ Gene

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 67
  2. Identification of a novel compound heterozygous mutation in PTPRQ in a DFNB84 family with prelingual sensorineural hearing impairment. (PMID: 25557914) Sang Q. … Wang L. (Mol. Genet. Genomics 2015) 3
  3. Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss. (PMID: 25788564) Sakuma N. … Usami S. (Ann. Otol. Rhinol. Laryngol. 2015) 3
  4. Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family. (PMID: 25919374) Gao X. … Dai P. (PLoS ONE 2015) 3
  5. Structural basis for the dephosphorylating activity of PTPRQ towards phosphatidylinositide substrates. (PMID: 23897475) Yu K.R. … Kim S.J. (Acta Crystallogr. D Biol. Crystallogr. 2013) 3

Products for PTPRQ Gene

Sources for PTPRQ Gene

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