P2RY14

Chr 3

purinergic receptor P2Y14

Also known as: BPR105, GPR105, P2Y14

NCBI Gene: 9934 ENSG00000174944 UniProt: Q15391 OMIM: 610116

The product of this gene belongs to the family of G-protein coupled receptors, which contains several receptor subtypes with different pharmacological selectivity for various adenosine and uridine nucleotides. This receptor is a P2Y purinergic receptor for UDP-glucose and other UDP-sugars coupled to G-proteins. It has been implicated in extending the known immune system functions of P2Y receptors by participating in the regulation of the stem cell compartment, and it may also play a role in neuroimmune function. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.34

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.34LOEUF

pLI 0.001

Z-score 0.88

OE 0.68 (0.37–1.34)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.10Z-score

OE missense 1.02 (0.91–1.15)

185 obs / 181.1 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.68 (0.37–1.34)

0≤0.351.4

Missense OE?1.02 (0.91–1.15)

0≤0.61.4

Synonymous OE?1.09

0≤1.21.6

LoF obs/exp: 6 / 8.8Missense obs/exp: 185 / 181.1Syn Z: -0.56

Background carrier burden — how many people carry a rare variant somewhere in P2RY14?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 120

419 rare PASS variants

Rare truncating (LoF)

1 in 2,400

54 rare PASS variants

Rare synonymous (reference)

1 in 280

173 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for P2RY14. 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 220	1 in 2,500
South Asian	~43k	1 in 150	1 in 1,600
Remaining (unassigned)	~30k	1 in 86	1 in 860
European (Finnish)	~27k	1 in 450	≈ 1 in 8,900
Admixed American	~22k	1 in 77	1 in 1,400
African / African American	~21k	1 in 91	1 in 1,400
East Asian	~20k	1 in 180	none seen
Ashkenazi Jewish	~13k	1 in 1,900	none seen
Middle Eastern	~2,884	≈ 1 in 580	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): All 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓