P2RX3
purinergic receptor P2X 3, the group of Purinergic receptors P2X
Basic information
Region (hg38): 11:57338352-57372396
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (61 variants)
- not_provided (3 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the P2RX3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002559.5. Only rare variants are included in the table.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 59 | 62 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 1 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 59 | 3 | 1 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| P2RX3 | protein_coding | protein_coding | ENST00000263314 | 12 | 32226 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00000103 | 0.939 | 125604 | 1 | 143 | 125748 | 0.000573 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.27 | 186 | 242 | 0.770 | 0.0000141 | 2600 |
| Missense in Polyphen | 79 | 112.23 | 0.70394 | 1223 | ||
| Synonymous | 0.342 | 90 | 94.2 | 0.955 | 0.00000619 | 733 |
| Loss of Function | 1.81 | 13 | 22.2 | 0.586 | 0.00000103 | 256 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00633 | 0.00628 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000329 | 0.000326 |
| Finnish | 0.000462 | 0.000462 |
| European (Non-Finnish) | 0.0000968 | 0.0000967 |
| Middle Eastern | 0.000329 | 0.000326 |
| South Asian | 0.0000990 | 0.0000980 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Receptor for ATP that acts as a ligand-gated cation channel (PubMed:27626375). Plays a role in sensory perception. Required for normal perception of pain. Required for normal taste perception (By similarity). {ECO:0000250|UniProtKB:Q3UR32, ECO:0000269|PubMed:27626375}.;
- Pathway
- Calcium signaling pathway - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Taste transduction - Homo sapiens (human);Hemostasis;Elevation of cytosolic Ca2+ levels;Platelet calcium homeostasis;Platelet homeostasis
(Consensus)
Recessive Scores
- pRec
- 0.159
Intolerance Scores
- loftool
- 0.700
- rvis_EVS
- -0.03
- rvis_percentile_EVS
- 51.92
Haploinsufficiency Scores
- pHI
- 0.317
- hipred
- N
- hipred_score
- 0.480
- ghis
- 0.435
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.148
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- P2rx3
- Phenotype
- integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; immune system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan);
Zebrafish Information Network
- Gene name
- p2rx3a
- Affected structure
- pharyngeal arch 1
- Phenotype tag
- abnormal
- Phenotype quality
- morphology
Gene ontology
- Biological process
- response to hypoxia;cation transport;signal transduction;neuromuscular synaptic transmission;blood coagulation;response to heat;response to cold;response to mechanical stimulus;response to carbohydrate;positive regulation of calcium ion transport into cytosol;urinary bladder smooth muscle contraction;monovalent inorganic cation transport;neuronal action potential;peristalsis;ion transmembrane transport;purinergic nucleotide receptor signaling pathway;regulation of synaptic plasticity;positive regulation of calcium-mediated signaling;sensory perception of taste;excitatory postsynaptic potential;behavioral response to formalin induced pain;protein homotrimerization;cellular response to ATP;cation transmembrane transport;positive regulation of sensory perception of pain
- Cellular component
- integral component of nuclear inner membrane;rough endoplasmic reticulum;Golgi apparatus;plasma membrane;integral component of plasma membrane;integral component of membrane;neuronal cell body;terminal bouton;dendritic spine;receptor complex;membrane raft;Schaffer collateral - CA1 synapse;hippocampal mossy fiber to CA3 synapse;integral component of presynaptic membrane
- Molecular function
- purinergic nucleotide receptor activity;extracellularly ATP-gated cation channel activity;ATP binding;ATP-gated ion channel activity