P2RX7

purinergic receptor P2X 7, the group of Purinergic receptors P2X

Basic information

Region (hg38): 12:121132818-121188032

Links

ENSG00000089041 ∙ NCBI:5027 ∙ OMIM:602566 ∙ HGNC:8537 ∙ Uniprot:Q99572 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the P2RX7 gene.

• Inborn genetic diseases (21 variants)
• not provided (11 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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	1	2
missense			20	4	4	28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)				1		1
splice region					1	1
non coding						0
Total	0	0	20	6	5

Variants in P2RX7

This is a list of pathogenic ClinVar variants found in the P2RX7 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
12-121132975-C-T		not specified	Uncertain significance (Feb 28, 2023)
12-121133042-G-T		not specified	Uncertain significance (May 11, 2022)
12-121133096-G-T			Likely benign (Dec 31, 2019)
12-121154804-A-C		not specified	Uncertain significance (Dec 09, 2023)
12-121154806-G-T		not specified	Uncertain significance (Dec 09, 2023)
12-121154810-T-C		not specified	Uncertain significance (Jan 22, 2024)
12-121154816-C-T		not specified	Uncertain significance (Dec 06, 2022)
12-121154884-C-T			Likely benign (Mar 29, 2018)
12-121154885-G-A		not specified	Uncertain significance (Jan 11, 2023)
12-121154893-T-C			Benign (Jun 29, 2018)
12-121154915-A-G		not specified	Uncertain significance (Jan 25, 2023)
12-121154940-C-T		not specified	Uncertain significance (Oct 26, 2021)
12-121156127-G-A		not specified	Uncertain significance (Jan 04, 2024)
12-121156133-C-T			Likely benign (Oct 01, 2022)
12-121160898-G-A		P2RX7-related disorder	Likely benign (Jan 04, 2021)
12-121162416-C-T		P2RX7-related disorder	Benign/Likely benign (Nov 10, 2020)
12-121162442-G-A		not specified	Uncertain significance (Oct 27, 2023)
12-121162477-G-T		not specified	Uncertain significance (Jan 02, 2024)
12-121162498-G-A		not specified	Uncertain significance (Jun 10, 2022)
12-121165357-G-A		not specified	Likely benign (Dec 17, 2023)
12-121165376-G-A		not specified	Uncertain significance (Dec 21, 2022)
12-121165421-G-A		not specified	Uncertain significance (May 02, 2023)
12-121166113-C-G		not specified	Uncertain significance (Feb 14, 2023)
12-121166114-C-T		not specified	Uncertain significance (Sep 16, 2021)
12-121166150-G-A		not specified	Likely benign (Apr 18, 2023)

GnomAD

Source: gnomAD

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: dbNSFP

• 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

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