P2RY2

purinergic receptor P2Y2, the group of P2Y receptors

Basic information

Region (hg38): 11:73218281-73242427

Links

ENSG00000175591 ∙ NCBI:5029 ∙ OMIM:600041 ∙ HGNC:8541 ∙ Uniprot:P41231 ∙ 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 P2RY2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the P2RY2 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
missense			28	2		30
nonsense						0
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	29	2	1

Variants in P2RY2

This is a list of pathogenic ClinVar variants found in the P2RY2 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-73234197-A-G		not specified	Uncertain significance (Apr 18, 2023)
11-73234209-A-G			Likely benign (Jan 01, 2023)
11-73234210-T-C			Benign (Mar 29, 2018)
11-73234243-C-A		not specified	Uncertain significance (Sep 15, 2021)
11-73234436-T-C		not specified	Uncertain significance (Sep 25, 2023)
11-73234440-C-A		not specified	Uncertain significance (Jun 24, 2022)
11-73234457-C-T		not specified	Uncertain significance (Apr 25, 2022)
11-73234469-G-A		not specified	Uncertain significance (Jan 26, 2022)
11-73234484-G-T		not specified	Uncertain significance (Jun 11, 2021)
11-73234508-C-A		not specified	Uncertain significance (Jan 23, 2024)
11-73234566-T-TA			Uncertain significance (Apr 01, 2023)
11-73234631-T-C		not specified	Uncertain significance (Oct 27, 2023)
11-73234674-T-C		not specified	Uncertain significance (Sep 07, 2022)
11-73234724-C-T		not specified	Uncertain significance (Aug 02, 2021)
11-73234740-G-A		not specified	Likely benign (Apr 12, 2022)
11-73234826-C-G		not specified	Uncertain significance (Dec 19, 2023)
11-73234881-G-C		not specified	Uncertain significance (Apr 07, 2023)
11-73234913-G-A		not specified	Uncertain significance (Jun 29, 2022)
11-73234925-C-G		not specified	Uncertain significance (Jul 15, 2021)
11-73234952-C-T		not specified	Uncertain significance (Nov 10, 2022)
11-73235037-C-T		not specified	Uncertain significance (Oct 26, 2022)
11-73235090-C-A		not specified	Uncertain significance (Mar 26, 2024)
11-73235099-G-A		not specified	Uncertain significance (Mar 06, 2023)
11-73235103-G-A		not specified	Uncertain significance (Aug 03, 2022)
11-73235111-C-G		not specified	Uncertain significance (Sep 29, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
P2RY2	protein_coding	protein_coding	ENST00000311131	1	18055

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0842	0.876	125714	0	29	125743	0.000115

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.198	265	274	0.966	0.0000201	2367
Missense in Polyphen		46	66.762	0.68901		779
Synonymous	0.448	117	123	0.949	0.00000912	853
Loss of Function	1.75	3	8.52	0.352	4.63e-7	85

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000596	0.000596
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000105	0.0000791
Middle Eastern	0.00	0.00
South Asian	0.000170	0.000163
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for ATP and UTP coupled to G-proteins that activate a phosphatidylinositol-calcium second messenger system. The affinity range is UTP = ATP > ATP-gamma-S >> 2-methylthio-ATP = ADP.
• Pathway: Inflammatory mediator regulation of TRP channels - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);GPCRs, Class A Rhodopsin-like;Nucleotide GPCRs;Signaling by GPCR;Signal Transduction;ionomycin and phorbal ester signaling pathway;ion channels and their functional role in vascular endothelium;activation of csk by camp-dependent protein kinase inhibits signaling through the t cell receptor;chrebp regulation by carbohydrates and camp;role of -arrestins in the activation and targeting of map kinases;activation of camp-dependent protein kinase pka;P2Y receptors;Nucleotide-like (purinergic) receptors;Class A/1 (Rhodopsin-like receptors);roles of arrestin dependent recruitment of src kinases in gpcr signaling;GPCR ligand binding;-arrestins in gpcr desensitization;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.286

Intolerance Scores

• loftool: 0.692
• rvis_EVS: 0.67
• rvis_percentile_EVS: 84.61

Haploinsufficiency Scores

• pHI: 0.137
• hipred: Y
• hipred_score: 0.713
• ghis: 0.398

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.487

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: P2ry2
• 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); 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); muscle phenotype; cellular phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: cellular ion homeostasis;G protein-coupled receptor signaling pathway;phospholipase C-activating G protein-coupled receptor signaling pathway;G protein-coupled purinergic nucleotide receptor signaling pathway;positive regulation of mucus secretion;cellular response to ATP;regulation of blood vessel diameter
• Cellular component: plasma membrane;integral component of plasma membrane
• Molecular function: signaling receptor activity;G protein-coupled purinergic nucleotide receptor activity