Gene table of P2RX2 : purinergic receptor P2X 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with P2RX2	OMIM link	Number of associated genes	genes
PS124900	DEAFNESS, AUTOSOMAL DOMINANT	ClinVar, OMIM, HUMSAVAR	link to OMIM	33	GJB2, DIAPH1, DFNA5, CEACAM16, CRYM, CCDC50, GJB3, KCNQ4, POU4F3, SLC17A8, MYO1A, TBC1D24, MYO7A, COL11A2, MIR96, GJB6, OSBPL2, TMC1, MYO6, P2RX2, EYA4, ACTG1, HOMER2, SIX1, WFS1, KITLG, DIABLO, COCH, TECTA, MYH9, MYH14, TNC, GRHL2

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Annotation of the gene P2RX2

Associated genes in ENSEMBL

ENSG00000187848

Associated proteins - SwissProt Accession ID

Q9UBL9

Associated PDB IDs

Cytogenetic Band

12q24.33

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Calcium signaling pathway	hsa04020	5.22
Neuroactive ligand-receptor interaction	hsa04080	4.58

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
signaling receptor activity	GO:0038023	2.49
purine ribonucleoside triphosphate binding	GO:0035639	2.22
heterocyclic compound binding	GO:1901363	1.06
molecular transducer activity	GO:0060089	2.32
binding	GO:0005488	0.18
signal transducer activity	GO:0004871	2.28
cation channel activity	GO:0005261	4.04
transmembrane receptor activity	GO:0099600	2.53
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
extracellular ATP-gated cation channel activity	GO:0004931	7.79
ligand-gated ion channel activity	GO:0015276	4.8
nucleotide binding	GO:0000166	1.96
purinergic receptor activity	GO:0035586	6.52
identical protein binding	GO:0042802	2.63
purine nucleoside binding	GO:0001883	2.22
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
ion channel activity	GO:0005216	3.71
ATP binding	GO:0005524	2.43
ATP-gated ion channel activity	GO:0035381	7.79
substrate-specific transmembrane transporter activity	GO:0022891	2.9
excitatory extracellular ligand-gated ion channel activity	GO:0005231	5.73
transmembrane transporter activity	GO:0022857	2.82
transporter activity	GO:0005215	2.57
extracellular ligand-gated ion channel activity	GO:0005230	5.42
cation transmembrane transporter activity	GO:0008324	3.32
small molecule binding	GO:0036094	1.89
passive transmembrane transporter activity	GO:0022803	3.6
purinergic nucleotide receptor activity	GO:0001614	6.69
substrate-specific transporter activity	GO:0022892	2.72
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
nucleotide receptor activity	GO:0016502	6.69
ion transmembrane transporter activity	GO:0015075	3.04
transmembrane signaling receptor activity	GO:0004888	2.57
channel activity	GO:0015267	3.6
adenyl ribonucleotide binding	GO:0032559	2.41
gated channel activity	GO:0022836	3.96
protein binding	GO:0005515	0.46
ligand-gated channel activity	GO:0022834	4.8
purine ribonucleotide binding	GO:0032555	2.2
substrate-specific channel activity	GO:0022838	3.67
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19
receptor activity	GO:0004872	2.32