P2RX5

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

Basic information

Region (hg38): 17:3672199-3696240

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.

not_specified (71 variants)
not_provided (4 variants)
P2RX5-related_disorder (2 variants)

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. These statistics are base on transcript: NM_000002561.4. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			68 clinvar	3 clinvar		71
nonsense			1 clinvar		1 clinvar	2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	69	4	1

Loading clinvar variants...

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