P2RY14

purinergic receptor P2Y14, the group of P2Y receptors

Basic information

Region (hg38): 3:151212116-151278542

Previous symbols: [ "GPR105" ]

Links

ENSG00000174944 ∙ NCBI:9934 ∙ OMIM:610116 ∙ HGNC:16442 ∙ Uniprot:Q15391 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the P2RY14 gene.

• Inborn genetic diseases (9 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the P2RY14 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			9		1	10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	0	1

Variants in P2RY14

This is a list of pathogenic ClinVar variants found in the P2RY14 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
3-151213337-C-T		not specified	Uncertain significance (Jun 24, 2022)
3-151213356-C-G		not specified	Uncertain significance (Nov 08, 2022)
3-151213415-G-A			Benign (Apr 10, 2018)
3-151213433-T-G		not specified	Uncertain significance (Nov 06, 2023)
3-151213479-T-A		not specified	Uncertain significance (Apr 19, 2023)
3-151213568-T-C		not specified	Uncertain significance (Dec 27, 2023)
3-151213740-C-A		not specified	Uncertain significance (Jan 31, 2024)
3-151213740-C-T		not specified	Uncertain significance (Oct 21, 2021)
3-151213783-T-G		not specified	Uncertain significance (Sep 27, 2022)
3-151213799-A-G		not specified	Uncertain significance (Dec 09, 2023)
3-151213817-A-G		not specified	Uncertain significance (Jun 23, 2021)
3-151213831-C-G		not specified	Uncertain significance (Sep 25, 2023)
3-151213886-A-G		not specified	Uncertain significance (Jan 26, 2022)
3-151213916-G-A		not specified	Uncertain significance (Oct 26, 2022)
3-151213938-G-A		not specified	Uncertain significance (Aug 21, 2023)
3-151214067-G-A		not specified	Uncertain significance (Jul 06, 2021)
3-151214207-A-C		not specified	Uncertain significance (Oct 17, 2023)
3-151214298-T-G		not specified	Uncertain significance (Apr 13, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
P2RY14	protein_coding	protein_coding	ENST00000309170	1	66351

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000549	0.718	125708	0	18	125726	0.0000716

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.104	185	181	1.02	0.00000933	2229
Missense in Polyphen		55	61.698	0.89144		819
Synonymous	-0.564	76	70.0	1.09	0.00000388	654
Loss of Function	0.879	6	8.82	0.681	3.73e-7	116

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000153	0.000152
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000881	0.0000879
Middle Eastern	0.00	0.00
South Asian	0.0000980	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for UDP-glucose and other UDP-sugar coupled to G-proteins. Not activated by ATP, ADP, UTP or ATP. {ECO:0000269|PubMed:10753868}.
• Pathway: Neuroactive ligand-receptor interaction - Homo sapiens (human);GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;P2Y receptors;Nucleotide-like (purinergic) receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.108

Intolerance Scores

• loftool: 0.547
• rvis_EVS: 0.04
• rvis_percentile_EVS: 57.31

Haploinsufficiency Scores

• pHI: 0.0823
• hipred: N
• hipred_score: 0.350
• ghis: 0.402

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.223

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: P2ry14
• Phenotype: immune system phenotype; digestive/alimentary phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; respiratory system phenotype; homeostasis/metabolism phenotype; muscle phenotype; endocrine/exocrine gland phenotype; growth/size/body region phenotype

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;G protein-coupled purinergic nucleotide receptor signaling pathway
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: G protein-coupled purinergic nucleotide receptor activity;UDP-activated nucleotide receptor activity