P2RX5

purinergic receptor P2X 5, the group of Purinergic receptors P2X|Minor histocompatibility antigens

Basic information

Region (hg38): 17:3672198-3696240

Links

ENSG00000083454 ∙ NCBI:5026 ∙ OMIM:602836 ∙ HGNC:8536 ∙ Uniprot:Q93086 ∙ 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 P2RX5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the P2RX5 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				1		1
missense			36	1		37
nonsense			1		1	2
start loss						0
frameshift					1	1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	37	2	2

Variants in P2RX5

This is a list of pathogenic ClinVar variants found in the P2RX5 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-3679584-C-T		P2RX5-related disorder	Benign/Likely benign (Jul 01, 2022)
17-3679655-C-T			Likely benign (May 01, 2023)
17-3679747-C-T		not specified	Uncertain significance (Sep 17, 2021)
17-3679765-G-A		P2RX5-related disorder	Benign (Jun 09, 2020)
17-3679768-A-C		not specified	Likely benign (Sep 29, 2023)
17-3681903-C-T		not specified	Uncertain significance (Mar 19, 2024)
17-3681906-C-T		not specified	Uncertain significance (Jan 24, 2024)
17-3681921-G-A		not specified	Uncertain significance (Feb 15, 2023)
17-3681961-G-T		not specified	Uncertain significance (Apr 05, 2023)
17-3688017-C-G		not specified	Uncertain significance (Aug 12, 2021)
17-3688044-C-T		not specified	Uncertain significance (Jul 05, 2023)
17-3688050-C-T		not specified	Uncertain significance (Dec 28, 2022)
17-3688083-C-T		not specified	Uncertain significance (May 25, 2022)
17-3688089-G-A			Uncertain significance (Aug 07, 2018)
17-3688098-T-C		not specified	Uncertain significance (Apr 20, 2024)
17-3688672-G-C		not specified	Uncertain significance (Jun 24, 2022)
17-3688753-C-T		not specified	Uncertain significance (Dec 12, 2023)
17-3689535-A-C		not specified	Uncertain significance (Feb 07, 2023)
17-3689541-C-A		not specified	Uncertain significance (Oct 12, 2022)
17-3689606-G-C		not specified	Uncertain significance (Jan 31, 2024)
17-3690095-G-A		not specified	Uncertain significance (Jun 29, 2022)
17-3690122-A-C		not specified	Uncertain significance (Apr 26, 2023)
17-3690125-C-A		not specified	Uncertain significance (Jun 11, 2024)
17-3690428-C-G		not specified	Uncertain significance (Mar 06, 2023)
17-3690443-T-A		not specified	Uncertain significance (Mar 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
P2RX5	protein_coding	protein_coding	ENST00000225328	12	24206

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.85e-13	0.0740	16927	59118	49703	125748	0.633

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.742	283	250	1.13	0.0000158	2759
Missense in Polyphen		114	92.78	1.2287		1093
Synonymous	-0.725	122	112	1.09	0.00000841	811
Loss of Function	0.545	21	23.9	0.880	0.00000118	274

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	1.05	1.05
Ashkenazi Jewish	0.584	0.575
East Asian	0.814	0.794
Finnish	0.726	0.710
European (Non-Finnish)	0.694	0.671
Middle Eastern	0.814	0.794
South Asian	0.605	0.591
Other	0.659	0.641

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for ATP that acts as a ligand-gated ion channel.
• Pathway: Calcium signaling pathway - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Hemostasis;Elevation of cytosolic Ca2+ levels;Platelet calcium homeostasis;Platelet homeostasis (Consensus)

Recessive Scores

• pRec: 0.107

Intolerance Scores

• loftool: 0.893
• rvis_EVS: 0.62
• rvis_percentile_EVS: 83.47

Haploinsufficiency Scores

• pHI: 0.0666
• hipred: N
• hipred_score: 0.139
• ghis: 0.449

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.333

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: P2rx5
• Phenotype: immune system phenotype; hematopoietic system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Zebrafish Information Network

• Gene name: p2rx5
• Affected structure: cation transport
• Phenotype tag: abnormal
• Phenotype quality: decreased occurrence

Gene ontology

• Biological process: cation transport;signal transduction;nervous system development;blood coagulation;positive regulation of calcium ion transport into cytosol;response to ATP;ion transmembrane transport;purinergic nucleotide receptor signaling pathway;positive regulation of calcium-mediated signaling;excitatory postsynaptic potential;cation transmembrane transport
• Cellular component: integral component of nuclear inner membrane;cytosol;plasma membrane;integral component of plasma membrane;integral component of membrane;postsynapse
• Molecular function: purinergic nucleotide receptor activity;transmembrane signaling receptor activity;extracellularly ATP-gated cation channel activity;ion channel activity;ATP binding;ATP-gated ion channel activity