P2RX6 (purinergic receptor P2X 6)

Gene

• Entrez ID: 9127
• Gene name: Purinergic receptor P2X 6
• Gene symbol: P2RX6
• Synonyms (NCBI Gene): P2RXL1, P2X6, P2XM
• Chromosome: 22
• Chromosome location: 22q11.21
• Summary: 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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 608077
• HGNC: 8538
• e!Ensembl: 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

Pathways

KEGG:

Calcium signaling pathway
Neuroactive ligand-receptor interaction

Reactome:

Elevation of cytosolic Ca2+ levels
Platelet homeostasis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
EOSINOPHILIC ESOPHAGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHY	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	17990272		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	27355755		★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	BEFREE	28797095		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	27355755		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Polycystic Kidney Disease	Polycystic kidney disease	BEFREE	15325248, 30417216		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	10376970		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	18543274, 18614336		★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	18543274, 23602648		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	21157381, 28536012		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	18543274, 23602648		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	31401785		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30762755		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	26541524		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28840058, 31152337		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	14701827		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	23602648		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29210478, 30544633		★☆☆☆☆ Found in Text Mining only
Eosinophilic esophagitis	Eosinophilia	GWASCAT_DG	25017104		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver Disease	Fatty Liver	BEFREE	29270247		★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	24703484		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	28430665		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28840058, 31152337		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	30821687		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	18852390		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	28797095		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28840058		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	31202513		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	29021225		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26517690		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	28415591, 28878780		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26491047	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	20493226		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	18543274, 23602648		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	28430665		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30762755		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10376970, 25515510		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	23602648		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	18268501, 29122639		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	29341465, 30908981		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	1649238		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	BEFREE	21170044, 23497937, 23725858		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10376970, 21157381, 30006588, 30209547		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	21081501		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	31054067		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	28298636, 30103845		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	29692728, 31054067		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	30103845		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28415591		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	20493226		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	10376970	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	9242461		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	18614336		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	25318479		★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	10376970		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	28430665		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	29749377		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	30010623		★☆☆☆☆ Found in Text Mining only