P2RY6

pyrimidinergic receptor P2Y6, the group of P2Y receptors

Basic information

Region (hg38): 11:73264498-73305103

Links

ENSG00000171631

∙ NCBI:5031 ∙ OMIM:602451 ∙ HGNC:8543 ∙ Uniprot:Q15077 ∙ 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 P2RY6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the P2RY6 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					2 clinvar	2
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1 clinvar	1
Total	0	0	0	0	3

Variants in P2RY6

This is a list of pathogenic ClinVar variants found in the P2RY6 region.

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

Position	Significance	ClinVar
11-73272314-G-A	Benign (Aug 15, 2018)	770771
11-73297304-C-T	Benign (Oct 19, 2017)	711558
11-73297344-T-C	Benign (Jul 23, 2018)	781223

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
P2RY6	protein_coding	protein_coding	ENST00000393590	1	34113

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000153	0.132	125703	0	45	125748	0.000179

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.383	196	212	0.926	0.0000158	2056
Missense in Polyphen		85	92.212	0.92178		960
Synonymous	-0.663	101	92.9	1.09	0.00000666	751
Loss of Function	-0.572	8	6.43	1.24	2.84e-7	76

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000393	0.000391
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000155	0.000139
European (Non-Finnish)	0.000230	0.000229
Middle Eastern	0.00	0.00
South Asian	0.000229	0.000229
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Receptor for extracellular UDP > UTP > ATP. The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system.;
Pathway: Neuroactive ligand-receptor interaction - Homo sapiens (human);GPCRs, Class A Rhodopsin-like;Nucleotide GPCRs;Signaling by GPCR;Signal Transduction;P2Y receptors;Nucleotide-like (purinergic) receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

pRec: 0.179

Intolerance Scores

loftool: 0.876
rvis_EVS: -0.89
rvis_percentile_EVS: 10.3

Haploinsufficiency Scores

pHI: 0.101
hipred: N
hipred_score: 0.455
ghis: 0.497

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: S
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.390

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: P2ry6
Phenotype: muscle phenotype; cellular phenotype; respiratory system phenotype; hematopoietic system phenotype; 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); immune system phenotype;

Gene ontology

Biological process: phagocytosis;G protein-coupled receptor signaling pathway;phospholipase C-activating G protein-coupled receptor signaling pathway;activation of phospholipase C activity;positive regulation of smooth muscle cell migration;transepithelial chloride transport;positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity;positive regulation of inositol trisphosphate biosynthetic process;G protein-coupled purinergic nucleotide receptor signaling pathway;positive regulation of ERK1 and ERK2 cascade;cellular response to prostaglandin E stimulus;cellular response to purine-containing compound;positive regulation of vascular smooth muscle cell proliferation;cellular response to pyrimidine ribonucleotide
Cellular component: plasma membrane;integral component of plasma membrane;basolateral plasma membrane;apical plasma membrane
Molecular function: ADP receptor activity;G protein-coupled receptor activity;protein binding;UDP-activated nucleotide receptor activity;UTP-activated nucleotide receptor activity