2. Gene
  3. PTPRQ - protein tyrosine phosphatase receptor type Q Gene

PTPRQ - protein tyrosine phosphatase receptor type Q Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as DFNA73; DFNB84; DFNB84A; PTPGMC1; R-PTP-Q

Gene ID: 374462 | Gene type: protein coding

About PTPRQ

Cytogenetic location: 12q21.31 Genomic coordinates (GRCh38): 12:80,444,235-80,680,273 (from NCBI)

This gene has 10 transcripts (splice variants), 132 orthologues, 36 paralogues and is associated with 4 phenotypes. Biased expression in fat (RPKM 1.2), lung (RPKM 1.0) and 9 other tissues.

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]

PTPRQ Products(1)

mRNA Protein Name
NM_001145026.2 NP_001138498.1 phosphatidylinositol phosphatase PTPRQ precursor

PTPRQ Protein Structure

fn3

fn3: Fibronectin type III domain (61 - 137)

fn3

fn3: Fibronectin type III domain (304 - 382)

fn3

fn3: Fibronectin type III domain (571 - 646)

fn3

fn3: Fibronectin type III domain (663 - 738)

fn3

fn3: Fibronectin type III domain (757 - 838)

fn3

fn3: Fibronectin type III domain (852 - 929)

fn3

fn3: Fibronectin type III domain (946 - 1036)

fn3

fn3: Fibronectin type III domain (1154 - 1227)

fn3

fn3: Fibronectin type III domain (1241 - 1321)

fn3

fn3: Fibronectin type III domain (1339 - 1414)

fn3

fn3: Fibronectin type III domain (1427 - 1522)

fn3

fn3: Fibronectin type III domain (1537 - 1614)

fn3

fn3: Fibronectin type III domain (1639 - 1728)

Y_phosphatase

Y_phosphatase: Protein-tyrosine phosphatase (2023 - 2253)

  • 0
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  • 2000
  • 2295 a.a.
Protein Preferred Names Protein Names

phosphatidylinositol phosphatase PTPRQ

phosphotidylinositol phosphatase PTPRQ

Related Diseases

Diseases Alias
Deafness, Autosomal Recessive 84a

DFNB84A

Deafness, Autosomal Recessive 84

Autosomal Recessive Nonsyndromic Deafness 84a

Dfnb84

Deafness, Autosomal Recessive 84a, With Vestibular Dysfunction

Autosomal Recessive Deafness 84a

Autosomal Recessive Deafness 84a With Vestibular Dysfunction

Deafness, Autosomal Recessive, 84a

Deafness Autosomal Recessive 84

Deafness Autosomal Recessive 84a With Vestibular Dysfunction

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 84

Deafness, Autosomal Recessive, Type 84a
Deafness, Autosomal Dominant 73

DFNA73

Deafness, Autosomal Dominant, 73

Deafness, Autosomal Dominant, Type 73
Paine Syndrome

Pain Disorder

Pain

Microcephaly With Spastic Diplegia

Pain Syndrome
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna

Autosomal Dominant Isolated Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna

Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna

Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna

Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna
Deafness, Autosomal Recessive
Autosomal Recessive Nonsyndromic Deafness

Deafness, Autosomal Recessive, Nonsyndromic
Autosomal Recessive Nonsyndromic Deafness 70

Deafness, Autosomal Recessive 70

Autosomal Recessive Deafness 70

Dfnb70

Deafness, Autosomal Recessive, Type 70
Deafness, Autosomal Dominant 2a

DFNA2A

Autosomal Dominant Nonsyndromic Deafness 2a

Autosomal Dominant Deafness 2a

Deafness, Autosomal Dominant, 2a

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 2a

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 2a

Deafness, Autosomal Dominant, Type 2a
Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia

Konigsmark Syndrome

DFNA1

Autosomal Dominant Nonsyndromic Deafness 1

Lfhl1

Deafness, Autosomal Dominant 1

Autosomal Dominant Deafness 1

Autosomal Dominant Deafness 1, With Or Without Thrombocytopenia

Hereditary Low Frequency Hearing Loss 1

Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome

Diaph1-Related Sensorineural Deafness-Thrombocytopenia Syndrome

Hereditary Low-Frequency Hearing Loss

Hereditary Low-Frequency Sensorineural Hearing Loss

Lfsnhl1

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 1

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 1

Deafness, Autosomal Dominant, Type 1
Deafness, Autosomal Recessive 39

DFNB39

Autosomal Recessive Nonsyndromic Deafness 39

Autosomal Recessive Deafness 39

Deafness, Autosomal Recessive, 39

Congenital Neurosensory Deafness Autosomal Recessive 39

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 39

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 39

Deafness, Autosomal Recessive, Type 39
Autosomal Dominant Nonsyndromic Deafness 78

Dfna78
Deafness, Autosomal Recessive 16

DFNB16

Autosomal Recessive Nonsyndromic Deafness 16

Autosomal Recessive Deafness 16

Deafness, Autosomal Recessive, 16

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 16

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 16

Deafness, Autosomal Recessive, Type 16
Immunoglobulin Heavy-And-Light Chain

Ah/Al Amyloidosis

Ig Heavy-And-Light-Chain Amyloidosis
Deafness, Autosomal Dominant 50

DFNA50

Autosomal Dominant Nonsyndromic Deafness 50

Autosomal Dominant Deafness 50

Deafness, Autosomal Dominant, Type 50
Deafness, Autosomal Recessive 42

DFNB42

Autosomal Recessive Nonsyndromic Deafness 42

Autosomal Recessive Deafness 42

Deafness, Autosomal Recessive, 42

Congenital Neurosensory Deafness Autosomal Recessive 42

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 42

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 42

Deafness, Autosomal Recessive, Type 42
Deafness, Autosomal Recessive 25

DFNB25

Autosomal Recessive Nonsyndromic Deafness 25

Autosomal Recessive Deafness 25

Deafness, Autosomal Recessive, 25

Deafness, Autosomal Recessive, Type 25
Autosomal Dominant Nonsyndromic Deafness 74

Dfna74
Deafness, Autosomal Recessive 37

DFNB37

Autosomal Recessive Nonsyndromic Deafness 37

Autosomal Recessive Deafness 37

Deafness, Autosomal Recessive, 37

Congenital Neurosensory Deafness Autosomal Recessive 37

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 37

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 37

Deafness, Autosomal Recessive, Type 37
Hydrocephalus

Hydrocephalus, Nonsyndromic, Autosomal Recessive

Hydrocephalus, X-Linked

Hydrocephalus Adverse Event

Hydrocephaly Nos
Normal Pressure Hydrocephalus

Low Pressure Hydrocephalus

Hydrocephalus Normal Pressure

Hydrocephalus, Normal Pressure

Normal Pressure Hydrocephalus Nos

Nph - [Normal Pressure Hydrocephalus]

Normal Pressure Hydrocephaly
Communicating Hydrocephalus

Acquired Communicating Hydrocephalus
Deafness, Autosomal Recessive 12

DFNB12

Deafness, Autosomal Recessive 12, Modifier Of

Autosomal Recessive Nonsyndromic Deafness 12

Autosomal Recessive Deafness 12

Deafness, Autosomal Recessive, 12

Congenital Neurosensory Deafness Autosomal Recessive 12

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12

Deafness, Autosomal Recessive, Type 12
Dyschromatosis Universalis Hereditaria

Duh
Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness
Auditory System Disease

Ear Diseases

Ear And Mastoid Disease
Well-Differentiated Liposarcoma

Atypical Lipomatous Tumor

Atypical Lipoma

Alt

Wdls

Liposarcoma, Well Differentiated

Pleomorphic Lipoma
Usher Syndrome, Type I

USH1

Usher Syndrome Type 1

Us1

Usher Syndrome, Type 1b

Usher Syndrome Type 1e

Retinitis Pigmentosa And Congenital Deafness

Usher Syndrome, Type Ie

USH1E

Usher Syndrome, Type 1e

Usher Syndrome, Type 1a

Usher Syndrome, Type Ib

Usher Syndrome Type 1b

Usher Syndrome Type Ie

Usher Syndrome Type I

Usher 1

Usher Syndrome, Type 1

Ush1a

Usher Syndrome, Type I, French Variety

Usher Syndrome, Type Ia

Usher Syndrome 1b

USH1B

Usher'S Syndrome Type 1b

Usher Syndrome Type Ib

Ushib
Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome

Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

Graefe-Usher Syndrome

Hallgren Syndrome

Usher'S Syndrome

Retinitis Pigmentosa-Deafness Syndrome

Retinitis Pigmentosa-Hearing Loss Syndrome

Ush

Usher Syndromes
Usher Syndrome Type 2

Ush2

Usher Syndrome Type Ii
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS11447 PTPRQ Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus PTPRQ MGD MGI:1096349
Rattus norvegicus PTPRQ RGD RGD:620779
Bos taurus PTPRQ VGNC VGNC:33556
Canis familiaris PTPRQ VGNC VGNC:45196
Felis catus PTPRQ VGNC VGNC:108375