• Gene id: 22953

Gene Summary

• Gene Symbol: P2RX2   Gene   UCSC   Ensembl
• Aliases: DFNA41, P2X2
• Gene name: purinergic receptor P2X 2
• Alternate names: P2X purinoceptor 2, ATP receptor, P2X Receptor, subunit 2, purinergic receptor P2X, ligand gated ion channel, 2,
• Gene location: 12q24.33 (132618775: 132623735)     Exons: 10     NC_000012.12
• Gene summary(Entrez): The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Multiple transcript variants e
• OMIM: 612333

Protein Summary

• Protein general information: Q9UBL9  
  • Name: P2X purinoceptor 2 (P2X2) (ATP receptor) (Purinergic receptor)
  • Length: 471  
  • Mass: 51754
• Sequence:

  MAAAQPKYPAGATARRLARGCWSALWDYETPKVIVVRNRRLGVLYRAVQLLILLYFVWYVFIVQKSYQESETGPE
  SSIITKVKGITTSEHKVWDVEEYVKPPEGGSVFSIITRVEATHSQTQGTCPESIRVHNATCLSDADCVAGELDML
  GNGLRTGRCVPYYQGPSKTCEVFGWCPVEDGASVSQFLGTMAPNFTILIKNSIHYPKFHFSKGNIADRTDGYLKR
  CTFHEASDLYCPIFKLGFIVEKAGESFTELAHKGGVIGVIINWDCDLDLPASECNPKYSFRRLDPKHVPASSGYN
  FRFAKYYKINGTTTRTLIKAYGIRIDVIVHGQAGKFSLIPTIINLATALTSVGVGSFLCDWILLTFMNKNKVYSH
  KKFDKVCTPSHPSGSWPVTLARVLGQAPPEPGHRSEDQHPSPPSGQEGQQGAECGPAFPPLRPCPISAPSEQMVD
  TPASEPAQASTPTDPKGLAQL

• Structural information:
  • Interpro: IPR003045  IPR027309  IPR001429  
  • Prosite: PS01212
  • STRING: ENSP00000343339
• Other Databases: GeneCards:  P2RX2  Malacards:  P2RX2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043235	receptor complex	IDA	cellular component
GO:0002931	response to ischemia	ISS	biological process
GO:0043025	neuronal cell body	ISS	cellular component
GO:0004931	extracellularly ATP-gated cation channel activity	IBA	molecular function
GO:0005639	integral component of nuclear inner membrane	IBA	cellular component
GO:0004931	extracellularly ATP-gated cation channel activity	IDA	molecular function
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0007605	sensory perception of sound	IMP	biological process
GO:0001614	purinergic nucleotide receptor activity	IEA	molecular function
GO:0004931	extracellularly ATP-gated cation channel activity	IEA	molecular function
GO:0098655	cation transmembrane transport	IEA	biological process
GO:0005216	ion channel activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0033198	response to ATP	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0015276	ligand-gated ion channel activity	TAS	molecular function
GO:0043235	receptor complex	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007596	blood coagulation	TAS	biological process
GO:0001666	response to hypoxia	IEA	biological process
GO:0004931	extracellularly ATP-gated cation channel activity	IEA	molecular function
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0007528	neuromuscular junction development	IEA	biological process
GO:0009743	response to carbohydrate	IEA	biological process
GO:0010033	response to organic substance	IEA	biological process
GO:0030432	peristalsis	IEA	biological process
GO:0048741	skeletal muscle fiber development	IEA	biological process
GO:0050909	sensory perception of taste	IEA	biological process
GO:0003029	detection of hypoxic conditions in blood by carotid body chemoreceptor signaling	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0007274	neuromuscular synaptic transmission	IEA	biological process
GO:0007605	sensory perception of sound	IEA	biological process
GO:0014832	urinary bladder smooth muscle contraction	IEA	biological process
GO:0033198	response to ATP	IEA	biological process
GO:0048266	behavioral response to pain	IEA	biological process
GO:0001614	purinergic nucleotide receptor activity	NAS	molecular function
GO:0004931	extracellularly ATP-gated cation channel activity	NAS	molecular function
GO:0005524	ATP binding	NAS	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0010524	positive regulation of calcium ion transport into cytosol	NAS	biological process
GO:0050850	positive regulation of calcium-mediated signaling	NAS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0098794	postsynapse	IEA	cellular component
GO:0098794	postsynapse	IEA	cellular component
GO:0035590	purinergic nucleotide receptor signaling pathway	IEA	biological process
GO:0035590	purinergic nucleotide receptor signaling pathway	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction
hsa04020	Calcium signaling pathway
hsa04742	Taste transduction

Diseases

Associated diseases	References
Deafness, autosomal dominant	KEGG:H00604
Deafness, autosomal dominant	KEGG:H00604
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq