Atlas of Genetics and Cytogenetics in Oncology and Haematology


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P2RX2 (purinergic receptor P2X 2)

Identity

Alias_namesDFNA41
deafness, autosomal dominant 41
purinergic receptor P2X, ligand-gated ion channel, 2
Alias_symbol (synonym)P2X2
Other alias
HGNC (Hugo) P2RX2
LocusID (NCBI) 22953
Atlas_Id 71601
Location 12q24.33  [Link to chromosome band 12q24]
Location_base_pair Starts at 132618780 and ends at 132622386 bp from pter ( according to hg38-Dec_2013)

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)P2RX2   15459
Cards
Entrez_Gene (NCBI)P2RX2  22953  purinergic receptor P2X 2
AliasesDFNA41; P2X2
GeneCards (Weizmann)P2RX2
Ensembl hg19 (Hinxton)ENSG00000187848 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000187848 [Gene_View]  chr12:132618780-132622386 [Contig_View]  P2RX2 [Vega]
ICGC DataPortalENSG00000187848
TCGA cBioPortalP2RX2
AceView (NCBI)P2RX2
Genatlas (Paris)P2RX2
WikiGenes22953
SOURCE (Princeton)P2RX2
Genetics Home Reference (NIH)P2RX2
Genomic and cartography
GoldenPath hg38 (UCSC)P2RX2  -     chr12:132618780-132622386 +  12q24.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)P2RX2  -     12q24.33   [Description]    (hg19-Feb_2009)
EnsemblP2RX2 - 12q24.33 [CytoView hg19]  P2RX2 - 12q24.33 [CytoView hg38]
Mapping of homologs : NCBIP2RX2 [Mapview hg19]  P2RX2 [Mapview hg38]
OMIM600844   608224   
Gene and transcription
Genbank (Entrez)AF109387 AF109388 AF190822 AF190823 AF190824
RefSeq transcript (Entrez)NM_001282164 NM_001282165 NM_012226 NM_016318 NM_170682 NM_170683 NM_174872 NM_174873
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)P2RX2
Cluster EST : UnigeneHs.258580 [ NCBI ]
CGAP (NCI)Hs.258580
Alternative Splicing GalleryENSG00000187848
Gene ExpressionP2RX2 [ NCBI-GEO ]   P2RX2 [ EBI - ARRAY_EXPRESS ]   P2RX2 [ SEEK ]   P2RX2 [ MEM ]
Gene Expression Viewer (FireBrowse)P2RX2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)22953
GTEX Portal (Tissue expression)P2RX2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UBL9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UBL9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UBL9
Splice isoforms : SwissVarQ9UBL9
PhosPhoSitePlusQ9UBL9
Domaine pattern : Prosite (Expaxy)P2X_RECEPTOR (PS01212)   
Domains : Interpro (EBI)P2X2_purnocptor    P2X_extracellular_dom    P2X_purnocptor   
Domain families : Pfam (Sanger)P2X_receptor (PF00864)   
Domain families : Pfam (NCBI)pfam00864   
Conserved Domain (NCBI)P2RX2
DMDM Disease mutations22953
Blocks (Seattle)P2RX2
SuperfamilyQ9UBL9
Human Protein AtlasENSG00000187848
Peptide AtlasQ9UBL9
HPRD15984
IPIIPI00298586   IPI00219278   IPI00329494   IPI00219279   IPI00219280   IPI00219281   IPI00433338   IPI01009982   IPI01015460   IPI01014628   
Protein Interaction databases
DIP (DOE-UCLA)Q9UBL9
IntAct (EBI)Q9UBL9
FunCoupENSG00000187848
BioGRIDP2RX2
STRING (EMBL)P2RX2
ZODIACP2RX2
Ontologies - Pathways
QuickGOQ9UBL9
Ontology : AmiGOpurinergic nucleotide receptor activity  purinergic nucleotide receptor activity  response to hypoxia  detection of hypoxic conditions in blood by carotid body chemoreceptor signaling  extracellular ATP-gated cation channel activity  extracellular ATP-gated cation channel activity  ATP binding  integral component of nuclear inner membrane  plasma membrane  integral component of plasma membrane  neuromuscular synaptic transmission  neuromuscular junction development  blood coagulation  sensory perception of sound  response to carbohydrate  positive regulation of calcium ion transport into cytosol  urinary bladder smooth muscle contraction  ligand-gated ion channel activity  apical plasma membrane  peristalsis  response to ATP  purinergic nucleotide receptor signaling pathway  identical protein binding  receptor complex  behavioral response to pain  skeletal muscle fiber development  positive regulation of calcium-mediated signaling  sensory perception of taste  protein homooligomerization  excitatory postsynaptic potential  cation transmembrane transport  postsynapse  
Ontology : EGO-EBIpurinergic nucleotide receptor activity  purinergic nucleotide receptor activity  response to hypoxia  detection of hypoxic conditions in blood by carotid body chemoreceptor signaling  extracellular ATP-gated cation channel activity  extracellular ATP-gated cation channel activity  ATP binding  integral component of nuclear inner membrane  plasma membrane  integral component of plasma membrane  neuromuscular synaptic transmission  neuromuscular junction development  blood coagulation  sensory perception of sound  response to carbohydrate  positive regulation of calcium ion transport into cytosol  urinary bladder smooth muscle contraction  ligand-gated ion channel activity  apical plasma membrane  peristalsis  response to ATP  purinergic nucleotide receptor signaling pathway  identical protein binding  receptor complex  behavioral response to pain  skeletal muscle fiber development  positive regulation of calcium-mediated signaling  sensory perception of taste  protein homooligomerization  excitatory postsynaptic potential  cation transmembrane transport  postsynapse  
Pathways : KEGGCalcium signaling pathway    Neuroactive ligand-receptor interaction   
NDEx NetworkP2RX2
Atlas of Cancer Signalling NetworkP2RX2
Wikipedia pathwaysP2RX2
Orthology - Evolution
OrthoDB22953
GeneTree (enSembl)ENSG00000187848
Phylogenetic Trees/Animal Genes : TreeFamP2RX2
HOVERGENQ9UBL9
HOGENOMQ9UBL9
Homologs : HomoloGeneP2RX2
Homology/Alignments : Family Browser (UCSC)P2RX2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerP2RX2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)P2RX2
dbVarP2RX2
ClinVarP2RX2
1000_GenomesP2RX2 
Exome Variant ServerP2RX2
ExAC (Exome Aggregation Consortium)P2RX2 (select the gene name)
Genetic variants : HAPMAP22953
Genomic Variants (DGV)P2RX2 [DGVbeta]
DECIPHERP2RX2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisP2RX2 
Mutations
ICGC Data PortalP2RX2 
TCGA Data PortalP2RX2 
Broad Tumor PortalP2RX2
OASIS PortalP2RX2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICP2RX2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDP2RX2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch P2RX2
DgiDB (Drug Gene Interaction Database)P2RX2
DoCM (Curated mutations)P2RX2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)P2RX2 (select a term)
intoGenP2RX2
Cancer3DP2RX2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600844    608224   
Orphanet12046   
MedgenP2RX2
Genetic Testing Registry P2RX2
NextProtQ9UBL9 [Medical]
TSGene22953
GENETestsP2RX2
Target ValidationP2RX2
Huge Navigator P2RX2 [HugePedia]
snp3D : Map Gene to Disease22953
BioCentury BCIQP2RX2
ClinGenP2RX2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD22953
Chemical/Pharm GKB GenePA32862
Clinical trialP2RX2
Miscellaneous
canSAR (ICR)P2RX2 (select the gene name)
Probes
Litterature
PubMed39 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineP2RX2
EVEXP2RX2
GoPubMedP2RX2
iHOPP2RX2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Sep 18 13:33:49 CEST 2017

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