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

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 43.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
NM_001277204.2	NP_001264133.1	1	yes	-
ENST00000540124.6	ENSP00000442551.1	1	yes	-
NM_176796.3	NP_789766.1	1	-	-
NM_176797.3	NP_789767.1	1	-	-

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the P2RY6 gene.

• not_provided (2 variants)

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. These statistics are base on transcript: NM_001277204.2. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					2	2
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	0	0	2

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
		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

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

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