ENSG00000187848


Homo sapiens

Features
Gene ID: ENSG00000187848
  
Biological name :P2RX2
  
Synonyms : P2RX2 / purinergic receptor P2X 2 / Q9UBL9
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: q24.33
Gene start: 132618776
Gene end: 132622386
  
Corresponding Affymetrix probe sets: 221356_x_at (Human Genome U133 Plus 2.0 Array)   221372_s_at (Human Genome U133 Plus 2.0 Array)   224069_x_at (Human Genome U133 Plus 2.0 Array)   224557_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000494644
Ensembl peptide - ENSP00000341419
Ensembl peptide - ENSP00000343339
Ensembl peptide - ENSP00000343904
Ensembl peptide - ENSP00000344502
Ensembl peptide - ENSP00000345095
Ensembl peptide - ENSP00000373762
Ensembl peptide - ENSP00000405531
Ensembl peptide - ENSP00000444477
NCBI entrez gene - 22953     See in Manteia.
OMIM - 600844
RefSeq - XM_017019035
RefSeq - NM_001282164
RefSeq - NM_001282165
RefSeq - NM_012226
RefSeq - NM_016318
RefSeq - NM_170682
RefSeq - NM_170683
RefSeq - NM_174872
RefSeq - NM_174873
RefSeq - XM_005266154
RefSeq - XM_005266155
RefSeq - XM_005266156
RefSeq - XM_011534786
RefSeq Peptide - NP_733782
RefSeq Peptide - NP_777361
RefSeq Peptide - NP_777362
RefSeq Peptide - NP_057402
RefSeq Peptide - NP_733783
RefSeq Peptide - NP_001269093
RefSeq Peptide - NP_001269094
RefSeq Peptide - NP_036358
swissprot - Q32MC3
swissprot - Q9UBL9
Ensembl - ENSG00000187848
  
Related genetic diseases (OMIM): 608224 - Deafness, autosomal dominant 41, 608224
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 p2rx2ENSDARG00000002300Danio rerio
 P2RX2ENSGALG00000044649Gallus gallus
 P2rx2ENSMUSG00000029503Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P2RX4 / Q99571 / purinergic receptor P2X 4ENSG0000013512437
P2RX3 / P56373 / purinergic receptor P2X 3ENSG0000010999137
P2RX5 / Q93086 / purinergic receptor P2X 5ENSG0000008345432
P2RX7 / Q99572 / purinergic receptor P2X 7ENSG0000008904132
P2RX5-TAX1BP3 / P2RX5-TAX1BP3 readthrough (NMD candidate)ENSG0000025795032
P2RX6 / O15547 / purinergic receptor P2X 6ENSG0000009995731
P2RX1 / P51575 / purinergic receptor P2X 1ENSG0000010840530


Protein motifs (from Interpro)
Interpro ID Name
 IPR001429  P2X purinoreceptor
 IPR003045  P2X2 purinoceptor
 IPR027309  P2X purinoreceptor extracellular domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001666 response to hypoxia IEA
 biological_processGO:0003029 detection of hypoxic conditions in blood by carotid body chemoreceptor signaling IEA
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0007268 chemical synaptic transmission IEA
 biological_processGO:0007274 neuromuscular synaptic transmission IEA
 biological_processGO:0007528 neuromuscular junction development IEA
 biological_processGO:0007596 blood coagulation TAS
 biological_processGO:0007605 sensory perception of sound IMP
 biological_processGO:0009743 response to carbohydrate IEA
 biological_processGO:0010033 response to organic substance IEA
 biological_processGO:0010524 positive regulation of calcium ion transport into cytosol NAS
 biological_processGO:0014832 urinary bladder smooth muscle contraction IEA
 biological_processGO:0030432 peristalsis IEA
 biological_processGO:0033198 response to ATP IEA
 biological_processGO:0035590 purinergic nucleotide receptor signaling pathway IEA
 biological_processGO:0048266 behavioral response to pain IEA
 biological_processGO:0048741 skeletal muscle fiber development IEA
 biological_processGO:0050850 positive regulation of calcium-mediated signaling NAS
 biological_processGO:0050909 sensory perception of taste IEA
 biological_processGO:0051260 protein homooligomerization IPI
 biological_processGO:0060079 excitatory postsynaptic potential IEA
 biological_processGO:0098655 cation transmembrane transport IEA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005639 integral component of nuclear inner membrane IBA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IDA
 cellular_componentGO:0043235 receptor complex IDA
 cellular_componentGO:0098794 postsynapse IEA
 molecular_functionGO:0001614 purinergic nucleotide receptor activity IEA
 molecular_functionGO:0004931 extracellularly ATP-gated cation channel activity IEA
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0015276 ligand-gated ion channel activity TAS
 molecular_functionGO:0042802 identical protein binding IPI


Pathways (from Reactome)
Pathway description
Elevation of cytosolic Ca2+ levels
Platelet homeostasis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000360 Tinnitus "Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation." [Cochrane:ab005233]
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 HP:0000365 Hearing loss 
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 HP:0000408 Hearing loss, sensorineural, progressive 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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