P2RX7
purinergic receptor P2X 7, the group of Purinergic receptors P2X
Basic information
Region (hg38): 12:121132819-121188032
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (60 variants)
- not_provided (11 variants)
- P2RX7-related_disorder (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the P2RX7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002562.6. 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 | 3 | |||||
| missense | 56 | 66 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | |||||
| Total | 0 | 0 | 56 | 9 | 5 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| P2RX7 | protein_coding | protein_coding | ENST00000546057 | 13 | 53255 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 3.33e-11 | 0.909 | 124173 | 9 | 1566 | 125748 | 0.00628 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.401 | 327 | 348 | 0.939 | 0.0000198 | 3902 |
| Missense in Polyphen | 114 | 121.67 | 0.937 | 1419 | ||
| Synonymous | 0.553 | 130 | 138 | 0.940 | 0.00000831 | 1091 |
| Loss of Function | 1.95 | 22 | 34.3 | 0.641 | 0.00000191 | 369 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00735 | 0.00735 |
| Ashkenazi Jewish | 0.00794 | 0.00797 |
| East Asian | 0.00475 | 0.00474 |
| Finnish | 0.00254 | 0.00254 |
| European (Non-Finnish) | 0.00907 | 0.00903 |
| Middle Eastern | 0.00475 | 0.00474 |
| South Asian | 0.00180 | 0.00180 |
| Other | 0.00978 | 0.00982 |
dbNSFP
Source:
- Function
- FUNCTION: Receptor for ATP that acts as a ligand-gated ion channel. Responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Could function in both fast synaptic transmission and the ATP-mediated lysis of antigen-presenting cells. In the absence of its natural ligand, ATP, functions as a scavenger receptor in the recognition and engulfment of apoptotic cells (PubMed:21821797, PubMed:23303206). {ECO:0000269|PubMed:21821797, ECO:0000269|PubMed:23303206, ECO:0000269|PubMed:28326637}.;
- Pathway
- Calcium signaling pathway - Homo sapiens (human);NOD-like receptor signaling pathway - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);The NLRP3 inflammasome;Inflammasomes;Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways;Innate Immune System;Immune System;Hemostasis;Elevation of cytosolic Ca2+ levels;Platelet calcium homeostasis;Platelet homeostasis
(Consensus)
Recessive Scores
- pRec
- 0.192
Intolerance Scores
- loftool
- 0.966
- rvis_EVS
- 2.83
- rvis_percentile_EVS
- 99.07
Haploinsufficiency Scores
- pHI
- 0.133
- hipred
- N
- hipred_score
- 0.475
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.250
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | High | High | High |
| Primary Immunodeficiency | High | High | High |
| Cancer | High | High | High |
Mouse Genome Informatics
- Gene name
- P2rx7
- Phenotype
- behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); hematopoietic system phenotype; limbs/digits/tail phenotype; skeleton phenotype; immune system phenotype; homeostasis/metabolism phenotype; cellular phenotype; growth/size/body region 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);
Zebrafish Information Network
- Gene name
- p2rx7
- Affected structure
- macrophage chemotaxis
- Phenotype tag
- abnormal
- Phenotype quality
- decreased occurrence
Gene ontology
- Biological process
- activation of MAPK activity;cell morphogenesis;phagolysosome assembly;positive regulation of T cell mediated cytotoxicity;regulation of sodium ion transport;response to ischemia;protein phosphorylation;membrane protein ectodomain proteolysis;phospholipid transfer to membrane;cation transport;vesicle budding from membrane;inflammatory response;mitochondrion organization;cell surface receptor signaling pathway;blood coagulation;response to mechanical stimulus;response to zinc ion;positive regulation of calcium ion transport into cytosol;positive regulation of gene expression;positive regulation of glutamate secretion;positive regulation of gamma-aminobutyric acid secretion;synaptic vesicle exocytosis;protein processing;plasma membrane phospholipid scrambling;sensory perception of pain;protein catabolic process;positive regulation of bone mineralization;bleb assembly;positive regulation of prostaglandin secretion;response to lipopolysaccharide;positive regulation of interleukin-6 production;collagen metabolic process;response to ATP;ion transmembrane transport;response to fluid shear stress;positive regulation of ion transmembrane transport;calcium-mediated signaling using extracellular calcium source;purinergic nucleotide receptor signaling pathway;T cell proliferation;T cell homeostasis;NAD transport;negative regulation of MAPK cascade;negative regulation of bone resorption;negative regulation of cell volume;positive regulation of glycolytic process;positive regulation of cytolysis;ceramide biosynthetic process;pore complex assembly;skeletal system morphogenesis;homeostasis of number of cells within a tissue;positive regulation of interleukin-1 alpha secretion;positive regulation of interleukin-1 beta secretion;defense response to Gram-positive bacterium;release of sequestered calcium ion into cytosol;protein complex oligomerization;positive regulation of cytoskeleton organization;response to calcium ion;response to electrical stimulus;regulation of killing of cells of other organism;membrane depolarization;positive regulation of mitochondrial depolarization;excitatory postsynaptic potential;positive regulation of lymphocyte apoptotic process;calcium ion transmembrane transport;cellular response to ATP;cellular response to dsRNA;reactive oxygen species metabolic process;apoptotic signaling pathway;extrinsic apoptotic signaling pathway;positive regulation of bleb assembly;cell surface receptor signaling pathway involved in cell-cell signaling
- Cellular component
- integral component of nuclear inner membrane;cytoplasm;plasma membrane;integral component of plasma membrane;cell-cell junction;external side of plasma membrane;membrane;integral component of membrane;neuromuscular junction;bleb;neuronal cell body;presynapse;postsynapse
- Molecular function
- lipopolysaccharide binding;purinergic nucleotide receptor activity;extracellularly ATP-gated cation channel activity;signaling receptor binding;protein binding;ATP binding;ATP-gated ion channel activity;protein homodimerization activity