P2RY14

Purinergic Receptor P2Y14

Gene Information Card

Symbol P2RY14
Full Name Purinergic Receptor P2Y14
Gene Type protein-coding
Chromosomal Location 3q25.2
NCBI Gene ID 9934 ncbi.nlm.nih.gov/gene/9934
Ensembl ID ENSG00000174944
UniProt ID Q15391
OMIM ID 600041
HGNC ID 8539
Aliases GPR105, P2Y14, P2Y14 receptor

Description

P2RY14 encodes the P2Y14 receptor, a G protein-coupled receptor (GPCR) that is activated by UDP-glucose and other UDP-sugars. It is involved in immune cell chemotaxis, inflammatory responses, and hematopoietic stem cell regulation. The receptor is expressed in various tissues including placenta, adipose tissue, and immune cells, and has been implicated in asthma, diabetes, and certain cancers.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Asthma P2RY14 activation on airway epithelial cells promotes chemokine release and eosinophil recruitment, contributing to airway inflammation. ClinVar, NCBI Gene
Type 2 Diabetes P2RY14 expression in pancreatic beta cells modulates insulin secretion; variants may alter glucose homeostasis. NCBI Gene, OMIM
Chronic Obstructive Pulmonary Disease (COPD) Receptor upregulation in lung tissue correlates with neutrophil infiltration and mucus hypersecretion. NCBI Gene
Acute Myeloid Leukemia P2RY14 is overexpressed in leukemic stem cells and may support self-renewal via UDP-sugar signaling. COSMIC, NCBI Gene

Expression Profile

Tissue Expression
Tissue nTPM level
Placenta 16.3 Medium
Adipose tissue 12.1 Medium
Lung 8.5 Low
Spleen 7.2 Low
Bone marrow 6.8 Low
Cell Line Expression
Cell Line nTPM Notes
THP-1 (monocyte) 9.4 High expression after differentiation
A549 (lung epithelial) 5.2 Moderate expression
K562 (leukemia) 3.1 Low expression
HepG2 (liver) 2.8 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.101C>T (p.Thr34Met) missense <0.01% Unknown; predicted benign by SIFT
c.556G>A (p.Val186Ile) missense <0.01% Unknown; predicted tolerated
c.898C>T (p.Arg300*) nonsense <0.01% Loss of function; likely pathogenic
Mutation functional classification

Loss of Function (LOF)

Nonsense mutation p.Arg300* truncates the receptor, likely abolishing signaling.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported.

Dominant Negative (DN)

No dominant-negative mutations reported.

Gene Ontology (GO)

• G protein-coupled receptor activity • UDP-glucose receptor activity
• signal transduction • chemotaxis
• inflammatory response • positive regulation of cytosolic calcium ion concentration

Pathways

P2Y receptors
GPCR downstream signaling
UDP-sugar signaling in immune cells

Protein Summary

The P2Y14 receptor is a 338-amino acid GPCR with seven transmembrane domains. It is activated by UDP-glucose, UDP-galactose, and other UDP-sugars. Upon ligand binding, it couples to Gαi/o proteins, inhibiting adenylyl cyclase and mobilizing intracellular calcium. The receptor plays roles in immune cell migration, hematopoietic stem cell maintenance, and inflammatory cytokine production. Its expression is regulated in response to stress and differentiation signals.

Related Products

Product name Cat.No. Species Gene ID
P2RY14 Knockout HEK293 Cell Line EDJ-KQ6825 Human 9934 Details Get a Quote
P2RY14 Knockout HeLa Cell Line EDJ-KQ55279 Human 9934 Details Get a Quote
P2RY14 Knockout A-549 Cell Line EDJ-KQ63760 Human 9934 Details Get a Quote
P2RY14 Knockout HCT 116 Cell Line EDJ-KQ72219 Human 9934 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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