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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	22953
Gene name	Purinergic receptor P2X 2
Gene symbol	P2RX2
Synonyms (NCBI Gene)	DFNA41P2X2
Chromosome	12
Chromosome location	12q24.33
Summary	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

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs143664462	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, intron variant, coding sequence variant
rs150293706	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs202138002	G>A,C	Pathogenic	3 prime UTR variant, missense variant, coding sequence variant
rs587777692	G>T	Pathogenic	Coding sequence variant, missense variant, intron variant

Show/Hide all (4)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030048	hsa-miR-26b-5p	Microarray	19088304
MIRT1208882	hsa-miR-146b-3p	CLIP-seq
MIRT1208883	hsa-miR-4468	CLIP-seq
MIRT1208884	hsa-miR-4747-5p	CLIP-seq

Show/Hide all (48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001614	Function	Purinergic nucleotide receptor activity	IEA
GO:0001614	Function	Purinergic nucleotide receptor activity	NAS	17895406
GO:0001666	Process	Response to hypoxia	IEA
GO:0002931	Process	Response to ischemia	ISS
GO:0003029	Process	Detection of hypoxic conditions in blood by carotid body chemoreceptor signaling	IEA
GO:0004931	Function	Extracellularly ATP-gated monoatomic cation channel activity	IBA
GO:0004931	Function	Extracellularly ATP-gated monoatomic cation channel activity	IDA	23345450
GO:0004931	Function	Extracellularly ATP-gated monoatomic cation channel activity	IEA
GO:0004931	Function	Extracellularly ATP-gated monoatomic cation channel activity	NAS	17895406
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	NAS	17895406
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	23345450
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007274	Process	Neuromuscular synaptic transmission	IEA
GO:0007528	Process	Neuromuscular junction development	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IMP	23345450
GO:0009743	Process	Response to carbohydrate	IEA
GO:0010524	Process	Positive regulation of calcium ion transport into cytosol	NAS	17895406
GO:0014832	Process	Urinary bladder smooth muscle contraction	IEA
GO:0015276	Function	Ligand-gated monoatomic ion channel activity	TAS	9119082
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	23345450
GO:0030432	Process	Peristalsis	IEA
GO:0033198	Process	Response to ATP	IEA
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:0042802	Function	Identical protein binding	IPI	15313628
GO:0043025	Component	Neuronal cell body	ISS
GO:0043235	Component	Receptor complex	IBA
GO:0043235	Component	Receptor complex	IDA	15313628, 23382219
GO:0045202	Component	Synapse	IEA
GO:0048266	Process	Behavioral response to pain	IEA
GO:0048741	Process	Skeletal muscle fiber development	IEA
GO:0050850	Process	Positive regulation of calcium-mediated signaling	NAS	17895406
GO:0050909	Process	Sensory perception of taste	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:0098794	Component	Postsynapse	IEA
GO:0098992	Component	Neuronal dense core vesicle	IEA

MIM	HGNC	e!Ensembl
600844	15459	ENSG00000187848

Q9UBL9

Protein name

P2X purinoceptor 2 (P2X2) (ATP receptor) (Purinergic receptor)

Protein function

ATP-gated nonselective transmembrane cation channel permeable to potassium, sodium and calcium (PubMed:10570044, PubMed:31636190). Activation by extracellular ATP induces a variety of cellular responses, such as excitatory postsynaptic responses

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00864	P2X_receptor	26 → 385		Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in both the central and peripheral nervous system, as well as in the pituitary gland. {ECO:0000269|PubMed:10570044}.

Sequence

MAAAQPKYPAGATARRLARGCWSALWDYETPKVIVVRNRRLGVLYRAVQLLILLYFVWYV
FIVQKSYQESETGPESSIITKVKGITTSEHKVWDVEEYVKPPEGGSVFSIITRVEATHSQ
TQGTCPESIRVHNATCLSDADCVAGELDMLGNGLRTGRCVPYYQGPSKTCEVFGWCPVED
GASVSQFLGTMAPNFTILIKNSIHYPKFHFSKGNIADRTDGYLKRCTFHEASDLYCPIFK
LGFIVEKAGESFTELAHKGGVIGVIINWDCDLDLPASECNPKYSFRRLDPKHVPASSGYN
FRFAKYYKINGTTTRTLIKAYGIRIDVIVHGQAGKFSLIPTIINLATALTSVGVGSFLCD
WILLTFMNKNKVYSHKKFDKVCTPSHPSGSWPVTLARVLGQAPPEPGHRSEDQHPSPPSG
QEGQQGAECGPAFPPLRPCPISAPSEQMVDTPASEPAQASTPTDPKGLAQL

Sequence length

471

Interactions

View interactions

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

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal dominant nonsyndromic hearing loss 41	Pathogenic; Likely pathogenic	rs587777692, rs202138002	RCV000143842 RCV000143843 RCV005253781

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Bilateral sensorineural hearing impairment	Conflicting classifications of pathogenicity	rs143626910	RCV001730848
Cervical cancer	Benign	rs116834114	RCV005894994
Lung cancer	Benign	rs116834114	RCV005894996
P2RX2-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs375236332, rs202099523, rs368231244, rs746554350, rs2041572453, rs75585377, rs876657424, rs114365804, rs115260724, rs568364905, rs763934299, rs762568711, rs973591484, rs2138376823, rs199767345 View all (6 more)	RCV003966201 RCV003966219 RCV004746437 RCV003973585 RCV004747177 RCV003977601 RCV003937812 RCV003947696 RCV004745284 RCV003977615 RCV003402346 RCV003420726 RCV003981709 RCV003906950 RCV003909871 RCV003939331 RCV003980104 RCV003962804 RCV003955853 RCV003970390 RCV003933007
Sarcoma	Benign	rs116834114	RCV005894995
Uterine corpus endometrial carcinoma	Benign	rs116834114	RCV005894997

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acidosis Lactic	Associate	25788561
Adenocarcinoma of Lung	Associate	40114223
Brain Diseases	Associate	25788561
Hearing Loss	Associate	25788561, 30819013, 33038743
Hearing Loss Sensorineural	Associate	25788561, 29986705
Lung Neoplasms	Associate	26491047
MELAS Syndrome	Associate	25788561
Mitochondrial Myopathies	Associate	25788561
Neoplasms	Associate	40114223
Nonsyndromic Deafness	Associate	34425661
Prostatic Neoplasms	Associate	36246559

P2RX2 (purinergic receptor P2X 2)