P2RX5
protein-codingpurinergic receptor P2X 5, the group of Purinergic receptors P2X|Minor histocompatibility antigens
Gene summary
The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream gene, TAX1BP3 (Tax1 binding protein 3). [provided by RefSeq, Mar 2011]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~24.0 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to P2RX5 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_002561.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | 2 | ||||
| missense | 80 | 4 | 84 | |||
| nonsense | 1 | 1 | 2 | |||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 81 | 6 | 1 | 88 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_002552.2 | 12 | MANE Select | |
| Ensembl | ENSP00000225328.5 | 12 | MANE Select | |
| RefSeq | NP_001191448.1 | 12 | Standard | |
| RefSeq | NP_001191449.1 | 11 | Standard |
Model Organisms & Knockout Phenotypes
Observed phenotypic effects in mouse and zebrafish models
| Gene / Model | Organism | Observed Phenotype |
|---|---|---|
| p2rx5 | Danio rerio | Structure: cation transport Quality: decreased occurrence abnormal |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Calcium signaling pathway - Homo sapiens (human)
- Neuroactive ligand-receptor interaction - Homo sapiens (human)
- Hemostasis
- Elevation of cytosolic Ca2+ levels
- Platelet calcium homeostasis
Biological Process
- cation transport
- signal transduction
- nervous system development
- blood coagulation
- positive regulation of calcium ion transport into cytosol
Molecular Function
- purinergic nucleotide receptor activity
- transmembrane signaling receptor activity
- extracellularly ATP-gated cation channel activity
- ion channel activity
- ATP binding
Cellular Component
- integral component of nuclear inner membrane
- cytosol
- plasma membrane
- integral component of plasma membrane
- integral component of membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000225328
- Coding exons
- 12
- Length
- 24206
- Individuals with no LoFs
- 16927
- Homozygous LoFs
- 59118
- Heterozygous LoFs
- 49703
- Defined
- 125748
- p
- 0.633
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.742 | 283 | 250 | 1.13 | 0.0000158 | 2759 |
| Missense (PolyPhen) | 114 | 92.78 | 1.2287 | 1093 | ||
| Synonymous | -0.725 | 122 | 112 | 1.09 | 0.00000841 | 811 |
| Loss of Function | 0.545 | 21 | 23.9 | 0.880 | 0.00000118 | 274 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.25 | 0.24 | notable |
| Latino/Admixed American | 0.81 | 0.77 | notable |
| Ashkenazi Jewish | 0.58 | 0.58 | notable |
| East Asian | 0.81 | 0.79 | notable |
| Finnish | 0.73 | 0.71 | notable |
| European (Non-Finnish) | 0.69 | 0.67 | notable |
| South Asian | 0.60 | 0.59 | notable |
| Other | 0.66 | 0.64 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Receptor for ATP that acts as a ligand-gated ion channel.;
Recessive Scores
- pRec
- 0.107
Intolerance Scores
- LoFtool
- 0.893
- RVIS EVS
- 0.62
- RVIS percentile EVS
- 83.47
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.333
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |