P2RY13

purinergic receptor P2Y13, the group of P2Y receptors

Basic information

Region (hg38): 3:151326311-151329549

Previous symbols: [ "GPR94", "GPR86" ]

Links

ENSG00000181631 ∙ NCBI:53829 ∙ OMIM:606380 ∙ HGNC:4537 ∙ Uniprot:Q9BPV8 ∙ 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 P2RY13 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the P2RY13 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			8	2		10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	3	0

Variants in P2RY13

This is a list of pathogenic ClinVar variants found in the P2RY13 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-151328060-T-A		not specified	Uncertain significance (Sep 29, 2023)
3-151328216-G-C		not specified	Uncertain significance (Sep 22, 2023)
3-151328296-C-T		not specified	Uncertain significance (May 13, 2024)
3-151328337-C-G		not specified	Uncertain significance (Aug 15, 2023)
3-151328370-A-T		not specified	Uncertain significance (Oct 10, 2023)
3-151328422-T-C		not specified	Uncertain significance (Dec 30, 2023)
3-151328562-A-G		not specified	Likely benign (Apr 06, 2023)
3-151328697-G-A		not specified	Uncertain significance (Jul 12, 2022)
3-151328718-G-T			Likely benign (Mar 01, 2023)
3-151328755-G-A		not specified	Uncertain significance (Mar 29, 2022)
3-151328800-A-G			Likely benign (Mar 01, 2023)
3-151328862-G-A		not specified	Uncertain significance (Jan 24, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
P2RY13	protein_coding	protein_coding	ENST00000325602	2	3237

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000304	0.591	125654	0	25	125679	0.0000995

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.417	169	185	0.914	0.00000896	2336
Missense in Polyphen		28	46.499	0.60216		618
Synonymous	0.261	69	71.8	0.961	0.00000370	698
Loss of Function	0.584	6	7.76	0.774	3.23e-7	116

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000122	0.000120
Ashkenazi Jewish	0.00	0.00
East Asian	0.000218	0.000218
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000106	0.000106
Middle Eastern	0.000218	0.000218
South Asian	0.000164	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for ADP. Coupled to G(i)-proteins. May play a role in hematopoiesis and the immune system. {ECO:0000269|PubMed:11546776}.
• Pathway: Neuroactive ligand-receptor interaction - Homo sapiens (human);GPCRs, Other;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;P2Y receptors;Nucleotide-like (purinergic) receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;GPCR downstream signalling (Consensus)

Intolerance Scores

• loftool: 0.490
• rvis_EVS: 0.22
• rvis_percentile_EVS: 68.13

Haploinsufficiency Scores

• pHI: 0.273
• hipred: N
• hipred_score: 0.123
• ghis: 0.518

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.182

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: P2ry13
• Phenotype: cellular phenotype; homeostasis/metabolism phenotype; skeleton phenotype; digestive/alimentary phenotype; liver/biliary system phenotype

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;negative regulation of adenylate cyclase activity;biological_process;G protein-coupled purinergic nucleotide receptor signaling pathway;cellular response to organic cyclic compound
• Cellular component: endoplasmic reticulum;plasma membrane;integral component of membrane
• Molecular function: G protein-coupled purinergic nucleotide receptor activity