PTPRQ - protein tyrosine phosphatase receptor type Q Gene

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

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 374462

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

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	参考文献	由来
involved in regulation of fat cell differentiation	IDA IDA: Inferred from direct assay	19351528	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PTPRQ Protein Structure

fn3

Y_phosphatase

0
400
800
1200
1600
2000
2295 a.a.

Protein Preferred Names	Protein Names
phosphatidylinositol phosphatase PTPRQ	phosphotidylinositol phosphatase PTPRQ

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (4)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS11447	PTPRQ Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS11448	PTPRR Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22753	Ptprq Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29267	Ptprq Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	PTPRQ	NCBI