P2RX6

purinergic receptor P2X 6, the group of Purinergic receptors P2X

Basic information

Region (hg38): 22:21009808-21028013

Previous symbols: [ "P2RXL1" ]

Links

ENSG00000099957 ∙ NCBI:9127 ∙ OMIM:608077 ∙ HGNC:8538 ∙ Uniprot:O15547 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• myopathy (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the P2RX6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the P2RX6 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			38	5		43
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	38	5	0

Variants in P2RX6

This is a list of pathogenic ClinVar variants found in the P2RX6 region.

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

Position	Type	Phenotype	Significance	ClinVar
22-21015197-C-G		not specified	Uncertain significance (Jan 09, 2025)
22-21015224-C-T		not specified	Uncertain significance (Jun 26, 2023)
22-21015241-C-A		not specified	Uncertain significance (Oct 01, 2024)
22-21015276-G-C		not specified	Uncertain significance (Oct 26, 2024)
22-21015284-G-T		not specified	Uncertain significance (Jan 24, 2024)
22-21015292-G-A		not specified	Uncertain significance (Oct 08, 2024)
22-21015329-A-G		not specified	Uncertain significance (Oct 06, 2021)
22-21015335-T-G		not specified	Uncertain significance (Dec 21, 2023)
22-21015955-G-T		not specified	Uncertain significance (Jan 31, 2024)
22-21015971-A-G		not specified	Uncertain significance (Dec 16, 2024)
22-21015994-T-A		not specified	Likely benign (Jan 31, 2023)
22-21016000-A-G		not specified	Likely benign (Nov 13, 2023)
22-21016010-A-G		not specified	Uncertain significance (May 30, 2023)
22-21016027-G-A		not specified	Uncertain significance (Oct 21, 2021)
22-21016070-C-A		not specified	Uncertain significance (Oct 07, 2024)
22-21016091-A-T		not specified	Uncertain significance (Aug 12, 2021)
22-21017998-G-A		not specified	Uncertain significance (Mar 23, 2022)
22-21022680-C-T		not specified	Uncertain significance (Dec 02, 2022)
22-21022724-G-A		not specified	Uncertain significance (Nov 08, 2024)
22-21022749-A-G		not specified	Uncertain significance (Jul 14, 2021)
22-21023123-C-T		not specified	Uncertain significance (Dec 09, 2023)
22-21023354-G-A		not specified	Uncertain significance (Jun 17, 2024)
22-21023360-C-T		not specified	Uncertain significance (Dec 23, 2024)
22-21023364-T-C		not specified	Uncertain significance (Aug 04, 2021)
22-21023375-G-A		not specified	Uncertain significance (Aug 25, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
P2RX6	protein_coding	protein_coding	ENST00000413302	12	19023

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.47e-9	0.591	125372	0	221	125593	0.000880

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.840	212	249	0.850	0.0000148	2789
Missense in Polyphen		83	90.942	0.91267		1175
Synonymous	-0.184	110	108	1.02	0.00000720	849
Loss of Function	1.20	16	22.1	0.724	0.00000104	244

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00152	0.00151
Ashkenazi Jewish	0.00371	0.00358
East Asian	0.000272	0.000272
Finnish	0.000188	0.000185
European (Non-Finnish)	0.000993	0.000987
Middle Eastern	0.000272	0.000272
South Asian	0.000462	0.000457
Other	0.00131	0.00131

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for ATP that acts as a ligand-gated ion channel. {ECO:0000250}.
• 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: 0.122

Intolerance Scores

• loftool: 0.987
• rvis_EVS: -0.18
• rvis_percentile_EVS: 40.56

Haploinsufficiency Scores

• pHI: 0.0582
• hipred: N
• hipred_score: 0.180
• ghis: 0.587

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.971

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: P2rx6
• Phenotype: homeostasis/metabolism phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Gene ontology

• Biological process: cation transport;muscle contraction;signal transduction;blood coagulation;response to ATP;ion transmembrane transport;purinergic nucleotide receptor signaling pathway;protein homooligomerization;protein heterooligomerization;excitatory postsynaptic potential;cation transmembrane transport
• Cellular component: integral component of nuclear inner membrane;cytoplasm;plasma membrane;integral component of plasma membrane;postsynaptic density;integral component of membrane;cell junction;neuronal cell body;dendritic spine;parallel fiber to Purkinje cell synapse;glutamatergic synapse;integral component of postsynaptic specialization membrane
• Molecular function: purinergic nucleotide receptor activity;transmembrane signaling receptor activity;extracellularly ATP-gated cation channel activity;ATP binding;channel activity;ATP-gated ion channel activity;identical protein binding