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

Summary

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: mouse all
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Genomic context

Location:: 12q21.31

Exon count:: 45

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (80444235..80680273)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (80422862..80658975)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (80838015..81074052)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
two novel compound heterozygous missense mutations, c. 3125 A>G p.D1042G and c.5981 A>G p.E1994G in the PTPRQ gene, were identified as the cause of recessively inherited sensorineural hearing loss in family 1572.
Title: Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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	Compare labs
Hearing loss, autosomal dominant 73 MedGen: C4540024 OMIM: 617663 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-85051 (e-PCR)
- UniSTS:103439

D12S1813 (e-PCR)
- UniSTS:36763

RH91909 (e-PCR)
- UniSTS:90317

D15S639E (e-PCR)
- UniSTS:149972

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 dephosphorylation	IEA Inferred from Electronic Annotation more info
involved_in peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity	IBA Inferred from Biological aspect of Ancestor 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
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

EC 3.1.3.48

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

NG_034052.1 RefSeqGene

Range

4890..240928

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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