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PTPRQ (protein tyrosine phosphatase receptor type Q)

Identity

Alias (NCBI)DFNA73
DFNB84
DFNB84A
PTPGMC1
R-PTP-Q
HGNC (Hugo) PTPRQ
HGNC Alias namephosphatidylinositol phosphatase PTPRQ
HGNC Previous nameDFNB84
HGNC Previous namedeafness, autosomal recessive 84
LocusID (NCBI) 374462
Atlas_Id 55852
Location 12q21.31  [Link to chromosome band 12q21]
Location_base_pair Starts at 80444235 and ends at 80680273 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
SLC9B1 (4q24) / PTPRQ (12q21.31)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)PTPRQ   9679
Cards
Entrez_Gene (NCBI)PTPRQ    protein tyrosine phosphatase receptor type Q
AliasesDFNA73; DFNB84; DFNB84A; PTPGMC1; 
R-PTP-Q
GeneCards (Weizmann)PTPRQ
Ensembl hg19 (Hinxton)ENSG00000139304 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000139304 [Gene_View]  ENSG00000139304 [Sequence]  chr12:80444235-80680273 [Contig_View]  PTPRQ [Vega]
ICGC DataPortalENSG00000139304
TCGA cBioPortalPTPRQ
AceView (NCBI)PTPRQ
Genatlas (Paris)PTPRQ
SOURCE (Princeton)PTPRQ
Genetics Home Reference (NIH)PTPRQ
Genomic and cartography
GoldenPath hg38 (UCSC)PTPRQ  -     chr12:80444235-80680273 +  12q21.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PTPRQ  -     12q21.31   [Description]    (hg19-Feb_2009)
GoldenPathPTPRQ - 12q21.31 [CytoView hg19]  PTPRQ - 12q21.31 [CytoView hg38]
ImmunoBaseENSG00000139304
Genome Data Viewer NCBIPTPRQ [Mapview hg19]  
OMIM603317   613391   617663   
Gene and transcription
Genbank (Entrez)AF169351 BM750287 DA545412 DB305536 DB318211
RefSeq transcript (Entrez)NM_001145026
Consensus coding sequences : CCDS (NCBI)PTPRQ
Gene ExpressionPTPRQ [ NCBI-GEO ]   PTPRQ [ EBI - ARRAY_EXPRESS ]   PTPRQ [ SEEK ]   PTPRQ [ MEM ]
Gene Expression Viewer (FireBrowse)PTPRQ [ Firebrowse - Broad ]
GenevisibleExpression of PTPRQ in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)374462
GTEX Portal (Tissue expression)PTPRQ
Human Protein AtlasENSG00000139304-PTPRQ [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UMZ3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UMZ3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UMZ3
Catalytic activity : Enzyme3.1.3.- [ Enzyme-Expasy ]   3.1.3.-3.1.3.- [ IntEnz-EBI ]   3.1.3.- [ BRENDA ]   3.1.3.- [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusQ9UMZ3
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    TYR_PHOSPHATASE_1 (PS00383)    TYR_PHOSPHATASE_2 (PS50056)    TYR_PHOSPHATASE_PTP (PS50055)   
Domains : Interpro (EBI)FN3_dom    FN3_sf    Ig-like_fold    Prot-tyrosine_phosphatase-like    PTPase_domain    PTPRJ_TM    Tyr_Pase_AS    Tyr_Pase_cat    TYR_PHOSPHATASE_dom   
Domain families : Pfam (Sanger)fn3 (PF00041)    PTP_tm (PF18861)    Y_phosphatase (PF00102)   
Domain families : Pfam (NCBI)pfam00041    pfam18861    pfam00102   
Domain families : Smart (EMBL)FN3 (SM00060)  PTPc (SM00194)  PTPc_motif (SM00404)  
Conserved Domain (NCBI)PTPRQ
PDB (RSDB)4IKC   
PDB Europe4IKC   
PDB (PDBSum)4IKC   
PDB (IMB)4IKC   
Structural Biology KnowledgeBase4IKC   
SCOP (Structural Classification of Proteins)4IKC   
CATH (Classification of proteins structures)4IKC   
SuperfamilyQ9UMZ3
AlphaFold pdb e-kbQ9UMZ3   
Human Protein Atlas [tissue]ENSG00000139304-PTPRQ [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q9UMZ3
IntAct (EBI)Q9UMZ3
BioGRIDPTPRQ
STRING (EMBL)PTPRQ
ZODIACPTPRQ
Ontologies - Pathways
QuickGOQ9UMZ3
Ontology : AmiGOprotein tyrosine phosphatase activity  integral component of membrane  receptor complex  regulation of fat cell differentiation  peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity  
Ontology : EGO-EBIprotein tyrosine phosphatase activity  integral component of membrane  receptor complex  regulation of fat cell differentiation  peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity  
NDEx NetworkPTPRQ
Atlas of Cancer Signalling NetworkPTPRQ
Wikipedia pathwaysPTPRQ
Orthology - Evolution
OrthoDB374462
GeneTree (enSembl)ENSG00000139304
Phylogenetic Trees/Animal Genes : TreeFamPTPRQ
Homologs : HomoloGenePTPRQ
Homology/Alignments : Family Browser (UCSC)PTPRQ
Gene fusions - Rearrangements
Fusion : QuiverPTPRQ
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPTPRQ [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PTPRQ
dbVarPTPRQ
ClinVarPTPRQ
MonarchPTPRQ
1000_GenomesPTPRQ 
Exome Variant ServerPTPRQ
GNOMAD BrowserENSG00000139304
Varsome BrowserPTPRQ
ACMGPTPRQ variants
VarityQ9UMZ3
Genomic Variants (DGV)PTPRQ [DGVbeta]
DECIPHERPTPRQ [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPTPRQ 
Mutations
ICGC Data PortalPTPRQ 
TCGA Data PortalPTPRQ 
Broad Tumor PortalPTPRQ
OASIS PortalPTPRQ [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPTPRQ  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPTPRQ
Mutations and Diseases : HGMDPTPRQ
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPTPRQ
DgiDB (Drug Gene Interaction Database)PTPRQ
DoCM (Curated mutations)PTPRQ
CIViC (Clinical Interpretations of Variants in Cancer)PTPRQ
Cancer3DPTPRQ
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603317    613391    617663   
Orphanet12047   
DisGeNETPTPRQ
MedgenPTPRQ
Genetic Testing Registry PTPRQ
NextProtQ9UMZ3 [Medical]
GENETestsPTPRQ
Target ValidationPTPRQ
Huge Navigator PTPRQ [HugePedia]
ClinGenPTPRQ
Clinical trials, drugs, therapy
MyCancerGenomePTPRQ
Protein Interactions : CTDPTPRQ
Pharm GKB GenePA164742315
PharosQ9UMZ3
Clinical trialPTPRQ
Miscellaneous
canSAR (ICR)PTPRQ
HarmonizomePTPRQ
DataMed IndexPTPRQ
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPTPRQ
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:27:33 CEST 2021

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