P2RX2

Chr 12q24.33

purinergic receptor P2X 2

Aliases:: P2X2
MANE:: ENST00000643471.2

OMIM: 600844 ↗NCBI: 22953 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

P2RX2 · Q9UBL9

v62025-08-01

Predicted Aligned Error matrix for P2RX2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

79.9/ 100

Confident

471 residues

Confidence breakdown

Very high(≥ 90)54%
Confident(70–90)22%
Low(50–70)7%
Very low(< 50)17%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

autosomal dominant nonsyndromic hearing loss
0.64
deafness
0.59
Non-syndromic genetic deafness
0.19
nonsyndromic genetic hearing loss
0.18
brain aneurysm
0.13
Sensorineural hearing impairment
0.12
atrial fibrillation
0.10
major depressive disorder
0.09
posterior cortical atrophy
0.09
gastroesophageal reflux disease
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

P2X purinoceptor 2

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 in sensory neurons, neuromuscular junctions (NMJ) formation, hearing, perception of taste and peristalsis (By similarity). In the inner ear, regulates sound transduction and auditory neurotransmission, outer hair cell electromotility, inner ear gap junctions, and K(+) recycling (PubMed:23345450). Mediates synaptic transmission between neurons and from neurons to smooth muscle (By similarity)