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PTPRQ protein tyrosine phosphatase receptor type Q [ Homo sapiens (human) ]

Gene ID: 374462, updated on 2-Nov-2024

Summary

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Official Symbol
PTPRQprovided by HGNC
Official Full Name
protein tyrosine phosphatase receptor type Qprovided by HGNC
Primary source
HGNC:HGNC:9679
See related
Ensembl:ENSG00000139304 MIM:603317; AllianceGenome:HGNC:9679
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DFNA73; DFNB84; DFNB84A; PTPGMC1; R-PTP-Q
Summary
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]
Expression
Biased expression in fat (RPKM 1.2), lung (RPKM 1.0) and 9 other tissues See more
Orthologs
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Genomic context

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See PTPRQ in Genome Data Viewer
Location:
12q21.31
Exon count:
45
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (80444235..80680273)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (80422862..80658975)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (80838015..81074052)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L26 pseudogene 32 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:80543056-80543602 Neighboring gene otogelin like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4684 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:80643124-80643716 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:80643717-80644308 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:80713982-80714515 Neighboring gene RN7SK pseudogene 261 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:80864089-80864632 Neighboring gene uncharacterized LOC124902975 Neighboring gene uncharacterized LOC105369867 Neighboring gene akirin 1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 7448 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:81026458-81027020 Neighboring gene Sharpr-MPRA regulatory region 15034 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:81077757-81078395 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6688 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:81101213-81102122 Neighboring gene myogenic factor 6 Neighboring gene myogenic factor 5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Delayed progressive sensorineural hearing loss due to a novel compound heterozygous PTPRQ mutation in a Chinese patient. Qin Y, et al. J Clin Lab Anal, 2023 Apr. PMID 37106574, Free PMC Article
  2. Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. Schraders M, et al. Am J Hum Genet, 2010 Apr 9. PMID 20346435, Free PMC Article
  3. Structural basis for the dephosphorylating activity of PTPRQ towards phosphatidylinositide substrates. Yu KR, et al. Acta Crystallogr D Biol Crystallogr, 2013 Aug. PMID 23897475
  4. Identification of a novel compound heterozygous mutation in PTPRQ in a DFNB84 family with prelingual sensorineural hearing impairment. Sang Q, et al. Mol Genet Genomics, 2015 Jun. PMID 25557914
  5. Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss. Sakuma N, et al. Ann Otol Rhinol Laryngol, 2015 May. PMID 25788564, Free PMC Article

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Detailed Clinical Features of PTPRQ-Associated Hearing Loss Identified in a Large Japanese Hearing Loss Cohort.
    Title: Detailed Clinical Features of PTPRQ-Associated Hearing Loss Identified in a Large Japanese Hearing Loss Cohort.
  2. Delayed progressive sensorineural hearing loss due to a novel compound heterozygous PTPRQ mutation in a Chinese patient.
    Title: Delayed progressive sensorineural hearing loss due to a novel compound heterozygous PTPRQ mutation in a Chinese patient.
  3. Protein Tyrosine Phosphatase Receptor-type Q: Structure, Activity, and Implications in Human Disease.
    Title: Protein Tyrosine Phosphatase Receptor-type Q: Structure, Activity, and Implications in Human Disease.
  4. PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India.
    Title: PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India.
  5. Protein tyrosine phosphatase receptor type Q in cerebrospinal fluid reflects ependymal cell dysfunction and is a potential biomarker for adult chronic hydrocephalus.
    Title: Protein tyrosine phosphatase receptor type Q in cerebrospinal fluid reflects ependymal cell dysfunction and is a potential biomarker for adult chronic hydrocephalus.
  6. First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene.
    Title: First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene.
  7. The studies findings suggest that the novel compound heterozygous PTPRQ mutations, c.4472C>T (p.T1491M) and c.1973T>C (p.V658A), are the cause of congenital Sensorineural Hearing Loss in a Chinese family.
    Title: Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family.
  8. We identified a heterozygous nonsense mutation, c.6881G>A (p.Trp2294*), in the last coding exon of PTPRQ. PTPRQ has been linked with recessive (DFNB84A), but not dominant deafness. PTPRQTrp2294* protein would lack only six terminal residues and could exert a dominant-negative effect
    Title: A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.
  9. PTPRQ may be a useful biomarker for discriminating between patients with Idiopathic normal pressure hydrocephalus and Alzheimer's disease.
    Title: PTPRQ as a potential biomarker for idiopathic normal pressure hydrocephalus.
  10. Confirm contribution of PTPRZ1, and especially PTPRQ, in CRC carcinogenesis and demonstrated that PTPRQ expression is correlated with KRAS mutation.
    Title: High PTPRQ Expression and Its Relationship to Expression of PTPRZ1 and the Presence of KRAS Mutations in Colorectal Cancer Tissues.
Submit: New GeneRIF Correction See all GeneRIFs (18)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Autosomal recessive nonsyndromic hearing loss 84A
MedGen: C3150654 OMIM: 613391 GeneReviews: Not available
not available
Hearing loss, autosomal dominant 73
MedGen: C4540024 OMIM: 617663 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein tyrosine phosphatase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in detection of mechanical stimulus involved in sensory perception of sound IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein dephosphorylation IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of fat cell differentiation IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in basal plasma membrane IEA
Inferred from Electronic Annotation
more info
  
part_of receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in stereocilium base ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
phosphatidylinositol phosphatase PTPRQ
Names
phosphotidylinositol phosphatase PTPRQ
protein-tyrosine phosphatase, receptor-type, expressed by glomerular mesangial cells
NP_001138498.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_034052.1 RefSeqGene

    Range
    4890..240928
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145026.2 → NP_001138498.1  phosphatidylinositol phosphatase PTPRQ precursor

    Status: REVIEWED

    Source sequence(s)
    ABBA01053496, AC074031, AC083812
    Consensus CDS
    CCDS73501.1
    UniProtKB/TrEMBL
    A0A087WZU1, A0A087X0B9
    Related
    ENSP00000495607.1, ENST00000644991.3
    Conserved Domains (6) summary
    smart00060
    Location:1245 → 1324
    FN3; Fibronectin type 3 domain
    smart00194
    Location:2002 → 2258
    PTPc; Protein tyrosine phosphatase, catalytic domain
    cd00047
    Location:2030 → 2258
    PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...
    cd00063
    Location:56 → 150
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:1540 → 1618
    fn3; Fibronectin type III domain
    cl06408
    Location:1748 → 1926
    UP_III_II; Uroplakin IIIb, IIIa and II

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    80444235..80680273
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    80422862..80658975
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UMZ3.2 GenPept UniProtKB/Swiss-Prot:Q9UMZ3

Gene LinkOut

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Chemical Information
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Research Materials