PTPRQ (protein tyrosine phosphatase receptor type Q)

2016-08-01  

Identity

HGNC
PTPRQ
LOCATION
12q21.31
LOCUSID
374462
ALIAS
DFNA73,DFNB84,DFNB84A,PTPGMC1,R-PTP-Q
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 374462
MIM: 603317
HGNC: 9679
Ensembl: ENSG00000139304

Variants:

dbSNP: 374462
ClinVar: 374462
TCGA: ENSG00000139304
COSMIC: PTPRQ

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000139304ENST00000547376F8VXI2
ENSG00000139304ENST00000547881H0YIJ5
ENSG00000139304ENST00000551042F8W122
ENSG00000139304ENST00000551573F8VW52
ENSG00000139304ENST00000616559A0A087X0B9
ENSG00000139304ENST00000644991A0A087WZU1

Expression (GTEx)

0
1
2
3
4
5
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
386744232024Detailed Clinical Features of PTPRQ-Associated Hearing Loss Identified in a Large Japanese Hearing Loss Cohort.0
386744232024Detailed Clinical Features of PTPRQ-Associated Hearing Loss Identified in a Large Japanese Hearing Loss Cohort.0
371065742023Delayed progressive sensorineural hearing loss due to a novel compound heterozygous PTPRQ mutation in a Chinese patient.2
371065742023Delayed progressive sensorineural hearing loss due to a novel compound heterozygous PTPRQ mutation in a Chinese patient.2
343740742022PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India.4
355467492022Protein Tyrosine Phosphatase Receptor-type Q: Structure, Activity, and Implications in Human Disease.3
343740742022PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India.4
355467492022Protein Tyrosine Phosphatase Receptor-type Q: Structure, Activity, and Implications in Human Disease.3
330353862021Protein tyrosine phosphatase receptor type Q in cerebrospinal fluid reflects ependymal cell dysfunction and is a potential biomarker for adult chronic hydrocephalus.7
330353862021Protein tyrosine phosphatase receptor type Q in cerebrospinal fluid reflects ependymal cell dysfunction and is a potential biomarker for adult chronic hydrocephalus.7
316556302019First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene.9
316556302019First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene.9
293094022018A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.15
298495752018Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family.11
293094022018A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.15

Citation

Dessen P

PTPRQ (protein tyrosine phosphatase receptor type Q)

Atlas Genet Cytogenet Oncol Haematol. 2016-08-01

Online version: http://atlasgeneticsoncology.org/gene/55852/ptprq-(protein-tyrosine-phosphatase-receptor-type-q)