P2RY8

protein-coding

P2Y receptor family member 8, the group of G protein-coupled receptors, Class A orphans|Pseudoautosomal region 1

Gene summary

The protein encoded by this gene belongs to the family of G-protein coupled receptors, that are preferentially activated by adenosine and uridine nucleotides. This gene is moderately expressed in undifferentiated HL60 cells, and is located on both chromosomes X and Y. [provided by RefSeq, Jul 2008]

MANE transcript

NM_178129.5

Inheritance

ClinVar variants

P:1

Top phenotype

Multiple myeloma

gnomAD constraint

pLI —, LoF o/e 0.77

Max pathogenic AF

—

Genomic locus

chrY:1,462,581-1,537,185

External References & Databases

Ensembl (ENSG00000292333)

Transcript & Mutation Effects

hg38 • Region Span ~74.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

systemic lupus erythematosusMODERATE

Inheritance Pattern: AD

Disease ID:MONDO:0007915

Submitter: PanelApp Australia

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to P2RY8 variants in ClinVar

1 Conditions Cataloged

Multiple myelomaTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense		1 clinvar				1
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	1	0	0	0	1

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 42 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_178129.5	RefSeq	NP_835230.1	2	MANE Select
ENST00000381297.10	Ensembl	ENSP00000370697.4	1	MANE Select
NM_001424186.1	RefSeq	NP_001411115.1	2	Standard
NM_001424187.1	RefSeq	NP_001411116.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Neuroactive ligand-receptor interaction - Homo sapiens (human)

Biological Process

positive regulation of Rho protein signal transduction
G protein-coupled purinergic nucleotide receptor signaling pathway
positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway

Molecular Function

G protein-coupled receptor activity
G protein-coupled purinergic nucleotide receptor activity

Cellular Component

integral component of plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000381297
Coding exons: 1
Length: 74536
Individuals with no LoFs: 125406
Homozygous LoFs: 0
Heterozygous LoFs: 5
Defined: 125411
p: 0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.73	184	263	0.699	0.0000191	2300
Missense (PolyPhen)		24	78.863	0.30432		804
Synonymous	0.0453	127	128	0.995	0.00000992	807
Loss of Function	0.495	4	5.22	0.766	2.23e-7	54

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000027	0.000027	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Probable receptor for purines coupled to G-proteins.;

Recessive Scores

pRec: 0.119

Intolerance Scores

LoFtool: 0.152
RVIS EVS: -0.25
RVIS percentile EVS: 35.99

Essentials

Essential (CRISPR): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.429

Gene Damage Prediction

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