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Ptprq Gene Detail
Summary
  • Symbol
    Ptprq
  • Name
    protein tyrosine phosphatase receptor type Q
  • Feature Type
    protein coding gene
  • IDs
    MGI:1096349
    NCBI Gene: 237523
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:107352910-107555912 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 55.97 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    6243 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1096349
 protein coding gene Chr10:107350224-107555939 (-)
129S1/SvImJ MGP_129S1SvImJ_G0017710
 protein coding gene Chr10:109716325-109931812 (-)
A/J MGP_AJ_G0017687
 protein coding gene Chr10:105603479-105807062 (-)
AKR/J MGP_AKRJ_G0017649
 protein coding gene Chr10:108670077-108874890 (-)
BALB/cJ MGP_BALBcJ_G0017651
 protein coding gene Chr10:105994054-106192749 (-)
C3H/HeJ MGP_C3HHeJ_G0017476
 protein coding gene Chr10:108773565-108990454 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018108
 protein coding gene Chr10:113515048-113743416 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0015787
 protein coding gene Chr10:100521972-100721275 (-)
CAST/EiJ MGP_CASTEiJ_G0017037
 protein coding gene Chr10:108874347-109080816 (-)
CBA/J MGP_CBAJ_G0017445
 protein coding gene Chr10:117935187-118175303 (-)
DBA/2J MGP_DBA2J_G0017550
 protein coding gene Chr10:104746556-104949324 (-)
FVB/NJ MGP_FVBNJ_G0017544
 protein coding gene Chr10:103740568-103943767 (-)
LP/J MGP_LPJ_G0017624
 protein coding gene Chr10:110334741-110541360 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0017573
 protein coding gene Chr10:120457292-120681849 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018146
 protein coding gene Chr10:108662291-108875452 (-)
PWK/PhJ MGP_PWKPhJ_G0016819
 protein coding gene Chr10:104801363-105009592 (-)
SPRET/EiJ MGP_SPRETEiJ_G0016609
 protein coding gene Chr10:107407412-107624765 (-)
WSB/EiJ MGP_WSBEiJ_G0017097
 protein coding gene Chr10:108779185-108989947 (-)



Homology
more
  • Human Ortholog
    PTPRQ, protein tyrosine phosphatase receptor type Q
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PTPRQ, protein tyrosine phosphatase receptor type Q
  • Synonyms
    DFNA73, DFNB84, DFNB84A, PTPGMC1, R-PTP-Q
  • Links
    NCBI Gene ID: 374462
    UniProt: Q9UMZ3

  • Chr Location
    12q21.31
Human Diseases
more
  • Diseases
    2 with human PTPRQ associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    15 phenotypes from 3 alleles in 3 genetic backgrounds
    14 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygotes for targeted mutations show absence of shaft connectors from vestibular hair bundles, postnatal degeneration in cochlear hair-bundle structure, reduced transducer currents but otherwise normal adaptation properties, a progressive loss of basal-coil cochlear hair cells, and deafness.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    24
  • GO References
    12
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    732
  • Tissues
    9
  • cDNA Data
    2
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000035916 Ensembl Gene Model | MGI Sequence Detail 203003 C57BL/6J ±  kb
    transcript ENSMUST00000050702 Ensembl | MGI Sequence Detail 7393 Not Applicable  
    polypeptide ENSMUSP00000058572 Ensembl | MGI Sequence Detail 2300 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 8
      Genomic 3
      cDNA 2
      Primer pair 3

      Microarray probesets 1
    References
    more
    • Summaries
      All 44
      Developmental Gene Expression 6
      Gene Ontology 12
      Phenotypes 14
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:345440 Qi J, et al., Critical role of TPRN rings in the stereocilia for hearing. Mol Ther. 2024 Jan 3;32(1):204-217
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory