P2RY10

protein-coding

P2Y receptor family member 10, the group of G protein-coupled receptors, Class A orphans

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. There is a pseudogene for this gene nearby on chromosome X. Multiple alternatively spliced transcripts have been observed. [provided by RefSeq, Apr 2016]

MANE transcript

NM_014499.4

Inheritance

—

ClinVar variants

U:53B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.33

Max pathogenic AF

—

Genomic locus

chrX:78,945,332-78,963,727

External References & Databases

Ensembl (ENSG00000078589)

Transcript & Mutation Effects

hg38 • Region Span ~18.4 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to P2RY10 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 23

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014499.4. 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			2 clinvar	1 clinvar	1 clinvar	4
missense			49 clinvar			49
nonsense			2 clinvar			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	53	1	1	55

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 12 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_014499.4	RefSeq	NP_055314.1	1	MANE Select
ENST00000171757.3	Ensembl	ENSP00000171757.2	1	MANE Select
NM_001324218.2	RefSeq	NP_001311147.1	1	Standard
NM_001324221.2	RefSeq	NP_001311150.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Neuroactive ligand-receptor interaction - Homo sapiens (human)
GPCRs, Class A Rhodopsin-like
Signaling by GPCR
Signal Transduction
P2Y receptors

Biological Process

G protein-coupled receptor signaling pathway
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

plasma membrane
integral component of plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000171757
Coding exons: 1
Length: 16623
Individuals with no LoFs: 125513
Homozygous LoFs: 2
Heterozygous LoFs: 1
Defined: 125516
p: 0.0000120

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.36	90	134	0.670	0.0000101	2257
Missense (PolyPhen)		5	31.447	0.159		641
Synonymous	-0.196	51	49.2	1.04	0.00000370	657
Loss of Function	1.53	2	6.05	0.331	4.53e-7	112

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000036	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0.00013	0.000092	rare
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

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

Recessive Scores

pRec: 0.113

Intolerance Scores

LoFtool: 0.149
RVIS EVS: -0.01
RVIS percentile EVS: 53.19

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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