Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9127
Gene name Gene Name - the full gene name approved by the HGNC.	Purinergic receptor P2X 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	P2RX6
Synonyms (NCBI Gene) Gene synonyms aliases	P2RXL1, P2X6, P2XM
Chromosome Chromosome number	22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	22q11.21
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(71)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050743	hsa-miR-17-3p	CLASH	23622248
MIRT1208919	hsa-miR-1182	CLIP-seq
MIRT1208920	hsa-miR-150	CLIP-seq
MIRT1208921	hsa-miR-185	CLIP-seq
MIRT1208922	hsa-miR-214	CLIP-seq
MIRT1208923	hsa-miR-3144-5p	CLIP-seq
MIRT1208924	hsa-miR-3191	CLIP-seq
MIRT1208925	hsa-miR-3192	CLIP-seq
MIRT1208926	hsa-miR-3619-5p	CLIP-seq
MIRT1208927	hsa-miR-3667-3p	CLIP-seq
MIRT1208928	hsa-miR-370	CLIP-seq
MIRT1208929	hsa-miR-378g	CLIP-seq
MIRT1208930	hsa-miR-4306	CLIP-seq
MIRT1208931	hsa-miR-4437	CLIP-seq
MIRT1208932	hsa-miR-4459	CLIP-seq
MIRT1208933	hsa-miR-4514	CLIP-seq
MIRT1208934	hsa-miR-4644	CLIP-seq
MIRT1208935	hsa-miR-4645-5p	CLIP-seq
MIRT1208936	hsa-miR-4652-5p	CLIP-seq
MIRT1208937	hsa-miR-4667-5p	CLIP-seq
MIRT1208938	hsa-miR-4673	CLIP-seq
MIRT1208939	hsa-miR-4674	CLIP-seq
MIRT1208940	hsa-miR-4691-3p	CLIP-seq
MIRT1208941	hsa-miR-4692	CLIP-seq
MIRT1208942	hsa-miR-4700-5p	CLIP-seq
MIRT1208943	hsa-miR-4713-5p	CLIP-seq
MIRT1208944	hsa-miR-4722-5p	CLIP-seq
MIRT1208945	hsa-miR-4731-5p	CLIP-seq
MIRT1208946	hsa-miR-4763-5p	CLIP-seq
MIRT1208947	hsa-miR-4779	CLIP-seq
MIRT1208948	hsa-miR-532-3p	CLIP-seq
MIRT1208949	hsa-miR-550a	CLIP-seq
MIRT1208950	hsa-miR-552	CLIP-seq
MIRT1208951	hsa-miR-711	CLIP-seq
MIRT1208952	hsa-miR-761	CLIP-seq
MIRT1208953	hsa-miR-764	CLIP-seq
MIRT1921794	hsa-miR-1226	CLIP-seq
MIRT1921795	hsa-miR-128	CLIP-seq
MIRT1921796	hsa-miR-146b-3p	CLIP-seq
MIRT1921797	hsa-miR-3173-5p	CLIP-seq
MIRT1921798	hsa-miR-4733-3p	CLIP-seq
MIRT1921799	hsa-miR-874	CLIP-seq
MIRT1921794	hsa-miR-1226	CLIP-seq
MIRT1921795	hsa-miR-128	CLIP-seq
MIRT1921796	hsa-miR-146b-3p	CLIP-seq
MIRT1921797	hsa-miR-3173-5p	CLIP-seq
MIRT1921798	hsa-miR-4733-3p	CLIP-seq
MIRT1921799	hsa-miR-874	CLIP-seq
MIRT1921794	hsa-miR-1226	CLIP-seq
MIRT1921795	hsa-miR-128	CLIP-seq
MIRT1921796	hsa-miR-146b-3p	CLIP-seq
MIRT1921797	hsa-miR-3173-5p	CLIP-seq
MIRT1921798	hsa-miR-4733-3p	CLIP-seq
MIRT1921799	hsa-miR-874	CLIP-seq
MIRT2060028	hsa-miR-135a	CLIP-seq
MIRT2060029	hsa-miR-135b	CLIP-seq
MIRT2060030	hsa-miR-1827	CLIP-seq
MIRT1208922	hsa-miR-214	CLIP-seq
MIRT2060031	hsa-miR-3162-3p	CLIP-seq
MIRT1208926	hsa-miR-3619-5p	CLIP-seq
MIRT1208935	hsa-miR-4645-5p	CLIP-seq
MIRT1208938	hsa-miR-4673	CLIP-seq
MIRT1208944	hsa-miR-4722-5p	CLIP-seq
MIRT1208952	hsa-miR-761	CLIP-seq
MIRT1208922	hsa-miR-214	CLIP-seq
MIRT1208926	hsa-miR-3619-5p	CLIP-seq
MIRT1208935	hsa-miR-4645-5p	CLIP-seq
MIRT1208938	hsa-miR-4673	CLIP-seq
MIRT1208952	hsa-miR-761	CLIP-seq
MIRT2686977	hsa-miR-361-3p	CLIP-seq
MIRT2686978	hsa-miR-483-3p	CLIP-seq

Show/Hide all(39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001614	Function	Purinergic nucleotide receptor activity	IEA
GO:0001614	Function	Purinergic nucleotide receptor activity	NAS	12088286
GO:0004888	Function	Transmembrane signaling receptor activity	TAS	9242461
GO:0004931	Function	Extracellularly ATP-gated monoatomic cation channel activity	IBA
GO:0004931	Function	Extracellularly ATP-gated monoatomic cation channel activity	IEA
GO:0004931	Function	Extracellularly ATP-gated monoatomic cation channel activity	NAS	12088286
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	NAS	12088286
GO:0005634	Component	Nucleus	IEA
GO:0005637	Component	Nuclear inner membrane	IEA
GO:0005737	Component	Cytoplasm	IDA	12088286
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9242461
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006936	Process	Muscle contraction	TAS	9242461
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	9242461
GO:0015267	Function	Channel activity	IEA
GO:0015267	Function	Channel activity	TAS	9242461
GO:0016020	Component	Membrane	IEA
GO:0030054	Component	Cell junction	IBA
GO:0030054	Component	Cell junction	IDA	12088286
GO:0033198	Process	Response to ATP	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0035590	Process	Purinergic nucleotide receptor signaling pathway	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043197	Component	Dendritic spine	IEA
GO:0043235	Component	Receptor complex	IDA	15313628
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IBA
GO:0098655	Process	Monoatomic cation transmembrane transport	IEA
GO:0098688	Component	Parallel fiber to Purkinje cell synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099634	Component	Postsynaptic specialization membrane	IEA

MIM	HGNC	e!Ensembl
608077	8538	ENSG00000099957

Protein

UniProt ID

O15547

Protein name

P2X purinoceptor 6 (P2X6) (ATP receptor) (P2XM) (Purinergic receptor) (Purinergic receptor P2X-like 1)

Protein function

May act as a modulatory subunit rather than a functional channel. Unlike other P2XRs members, P2RX6 does not seem to form functional homotrimers (PubMed:22378790). P2RX6 requires the presence of P2RX4 or P2RX2 to shuttle it to the plasma membran

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00864	P2X_receptor	23 → 381		Family

Tissue specificity

TISSUE SPECIFICITY: Expressed predominantly in skeletal muscle.

Sequence

MCPQLAGAGSMGSPGATTGWGLLDYKTEKYVMTRNWRVGALQRLLQFGIVVYVVGWALLA
KKGYQERDLEPQFSIITKLKGVSVTQIKELGNRLWDVADFVKPPQGENVFFLVTNFLVTP
AQVQGRCPEHPSVPLANCWVDEDCPEGEGGTHSHGVKTGQCVVFNGTHRTCEIWSWCPVE
SGVVPSRPLLAQAQNFTLFIKNTVTFSKFNFSKSNALETWDPTYFKHCRYEPQFSPYCPV
FRIGDLVAKAGGTFEDLALLGGSVGIRVHWDCDLDTGDSGCWPHYSFQLQEKSYNFRTAT
HWWEQPGVEARTLLKLYGIRFDILVTGQAGKFGLIPTAVTLGTGAAWLGVVTFFCDLLLL
YVDREAHFYWRTKYEEAKAPKATANSVWRELALASQARLAECLRRSSAPAPTATAAGSQT
QTPGWPCPSSDTHLPTHSGSL

Sequence length

441

Interactions

View interactions

	KEGG		Reactome
	Calcium signaling pathway Neuroactive ligand-receptor interaction		Elevation of cytosolic Ca2+ levels Platelet homeostasis

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Eosinophilia	Eosinophilic esophagitis	N/A	N/A	GWAS
Myopathy	myopathy	N/A	N/A	GenCC

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Lung Neoplasms	Associate	26491047
Neoplasms	Associate	10376970
Sarcoma	Associate	10376970
Soft Tissue Neoplasms	Associate	10376970

P2RX6 (purinergic receptor P2X 6)