• Gene id: 9127

Gene Summary

• Gene Symbol: P2RX6   Gene   UCSC   Ensembl
• Aliases: P2RXL1, P2X6, P2XM
• Gene name: purinergic receptor P2X 6
• Alternate names: P2X purinoceptor 6, ATP receptor, purinergic receptor P2X, ligand gated ion channel, 6, purinergic receptor P2X-like 1, orphan receptor, purinoceptor P2X6, purinoreceptor P2X6, skeletal muscle-expressed P2X,
• Gene location: 22q11.21 (21009698: 21028012)     Exons: 14     NC_000022.11
• Gene summary(Entrez): The protein encoded by this gene belongs to the family of P2X receptors, which are ATP-gated ion channels and mediate rapid and selective permeability to cations. This gene is predominantly expressed in skeletal muscle, and regulated by p53. The encoded p
• OMIM: 605696

Protein Summary

• Protein general information: O15547  
  • Name: P2X purinoceptor 6 (P2X6) (ATP receptor) (P2XM) (Purinergic receptor) (Purinergic receptor P2X like 1)
  • Length: 441  
  • Mass: 48829
  • Tissue specificity: Expressed predominantly in skeletal muscle.
• Sequence:

  MCPQLAGAGSMGSPGATTGWGLLDYKTEKYVMTRNWRVGALQRLLQFGIVVYVVGWALLAKKGYQERDLEPQFSI
  ITKLKGVSVTQIKELGNRLWDVADFVKPPQGENVFFLVTNFLVTPAQVQGRCPEHPSVPLANCWVDEDCPEGEGG
  THSHGVKTGQCVVFNGTHRTCEIWSWCPVESGVVPSRPLLAQAQNFTLFIKNTVTFSKFNFSKSNALETWDPTYF
  KHCRYEPQFSPYCPVFRIGDLVAKAGGTFEDLALLGGSVGIRVHWDCDLDTGDSGCWPHYSFQLQEKSYNFRTAT
  HWWEQPGVEARTLLKLYGIRFDILVTGQAGKFGLIPTAVTLGTGAAWLGVVTFFCDLLLLYVDREAHFYWRTKYE
  EAKAPKATANSVWRELALASQARLAECLRRSSAPAPTATAAGSQTQTPGWPCPSSDTHLPTHSGSL

• Structural information:
  • Interpro: IPR003049  IPR027309  IPR001429  
  • Prosite: PS01212
  • STRING: ENSP00000416193
• Other Databases: GeneCards:  P2RX6  Malacards:  P2RX6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043235	receptor complex	IDA	cellular component
GO:0005639	integral component of nuclear inner membrane	IBA	cellular component
GO:0004931	extracellularly ATP-gated cation channel activity	IBA	molecular function
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:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0015267	channel activity	TAS	molecular function
GO:0004888	transmembrane signaling receptor activity	TAS	molecular function
GO:0007165	signal transduction	TAS	biological process
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006936	muscle contraction	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007596	blood coagulation	TAS	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098688	parallel fiber to Purkinje cell synapse	IEA	cellular component
GO:0004931	extracellularly ATP-gated cation channel activity	IEA	molecular function
GO:0099060	integral component of postsynaptic specialization membrane	IEA	cellular component
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0043197	dendritic spine	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
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:0030054	cell junction	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0016020	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: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

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq