P2RY13

Chr 3

purinergic receptor P2Y13

Also known as: FKSG77, GPCR1, GPR86, GPR94, P2Y13, SP174

NCBI Gene: 53829 ENSG00000181631 UniProt: Q9BPV8

The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is activated by ADP. [provided by RefSeq, Sep 2008]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.50

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.50LOEUF

pLI 0.000

Z-score 0.58

OE 0.77 (0.42–1.50)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.42Z-score

OE missense 0.91 (0.81–1.04)

169 obs / 185.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.77 (0.42–1.50)

0≤0.351.4

Missense OE?0.91 (0.81–1.04)

0≤0.61.4

Synonymous OE?0.96

0≤1.21.6

LoF obs/exp: 6 / 7.8Missense obs/exp: 169 / 185.0Syn Z: 0.26

Background carrier burden — how many people carry a rare variant somewhere in P2RY13?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 190

443 rare PASS variants

Rare truncating (LoF)

1 in 2,800

64 rare PASS variants

Rare synonymous (reference)

1 in 390

155 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for P2RY13. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 210	1 in 3,000
South Asian	~43k	1 in 170	1 in 3,300
Remaining (unassigned)	~30k	1 in 170	1 in 3,700
European (Finnish)	~27k	1 in 340	1 in 2,100
Admixed American	~22k	1 in 210	1 in 3,800
African / African American	~21k	1 in 97	1 in 2,600
East Asian	~20k	1 in 240	1 in 1,700
Ashkenazi Jewish	~13k	1 in 460	1 in 1,700
Middle Eastern	~2,884	1 in 360	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 1 of 2 coding exons well covered in gnomAD exomes; exon 1 marginal. Genomes: all 2.? see exons ↓