P2RX4 Gene (Protein Coding)

Purinergic Receptor P2X 4

GC12P123034
GIFtS:
44
The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel with high calcium permeability. The main pharmacological distinction between the members of the purinoceptor family is the relative sensitivity to the antagonists suramin and PPADS. The product of this gene has the lowest sensitivity for these antagonis... See more...

Aliases for P2RX4 Gene

Aliases for P2RX4 Gene

  • Purinergic Receptor P2X 4 2 3 5
  • P2X4 2 3 4
  • P2X Purinoceptor 4 3 4
  • ATP Receptor 3 4
  • Purinergic Receptor P2X, Ligand-Gated Ion Channel, 4 2
  • Purinergic Receptor P2X, Ligand Gated Ion Channel, 4 3
  • ATP-Gated Cation Channel Protein 3
  • Purinergic Receptor P2X4 3
  • P2X Receptor, Subunit 4 3
  • Purinergic Receptor 4
  • Purinoceptor P2X4 3
  • P2X4R 3
  • P2RX4 5

External Ids for P2RX4 Gene

Previous GeneCards Identifiers for P2RX4 Gene

  • GC12P120510
  • GC12P121227
  • GC12P121430
  • GC12P120059
  • GC12P120110
  • GC12P121647
  • GC12P118657
  • GC12P121229
  • GC12P121281
  • GC12P122319
  • GC12P122398
  • GC12P122437
  • GC12P122632
  • GC12P121337
  • GC12P121401
  • GC12P121465
  • GC12P121686
  • GC12P122014
  • GC12P122100
  • GC12P122175
  • GC12P122255
  • GC12P122831

Summaries for P2RX4 Gene

Entrez Gene Summary for P2RX4 Gene

  • The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel with high calcium permeability. The main pharmacological distinction between the members of the purinoceptor family is the relative sensitivity to the antagonists suramin and PPADS. The product of this gene has the lowest sensitivity for these antagonists. Multiple alternatively spliced transcript variants, some protein-coding and some not protein-coding, have been found for this gene. [provided by RefSeq, Feb 2012]

GeneCards Summary for P2RX4 Gene

P2RX4 (Purinergic Receptor P2X 4) is a Protein Coding gene. Diseases associated with P2RX4 include Posterior Cerebral Artery Infarction and Chronic Fatigue Syndrome. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Ca, cAMP and Lipid Signaling. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and ion channel activity. An important paralog of this gene is P2RX1.

UniProtKB/Swiss-Prot Summary for P2RX4 Gene

  • Receptor for ATP that acts as a ligand-gated ion channel. This receptor is insensitive to the antagonists PPADS and suramin.

Tocris Summary for P2RX4 Gene

  • P2X receptors are members of the ligand-gated ion channel family that open in response to extracellular ATP. Each receptor is made up of a trimer of subunits (P2X1-7) all of which share the common structure of two transmembrane domains.

Gene Wiki entry for P2RX4 Gene

Additional gene information for P2RX4 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for P2RX4 Gene

Genomics for P2RX4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for P2RX4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around P2RX4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for P2RX4

Top Transcription factor binding sites by QIAGEN in the P2RX4 gene promoter:
  • FOXD3
  • IRF-7A
  • p300
  • POU2F1
  • POU2F1a
  • PPAR-gamma1
  • PPAR-gamma2
  • RSRFC4
  • SRY
  • STAT5A

Genomic Locations for P2RX4 Gene

Latest Assembly
chr12:121,209,861-121,234,106
(GRCh38/hg38)
Size:
24,246 bases
Orientation:
Plus strand

Previous Assembly
chr12:121,647,932-121,671,909
(GRCh37/hg19 by Entrez Gene)
Size:
23,978 bases
Orientation:
Plus strand

chr12:121,647,660-121,671,909
(GRCh37/hg19 by Ensembl)
Size:
24,250 bases
Orientation:
Plus strand

Genomic View for P2RX4 Gene

Genes around P2RX4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
P2RX4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for P2RX4 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for P2RX4 Gene

Proteins for P2RX4 Gene

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  • Protein details for P2RX4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99571-P2RX4_HUMAN
    Recommended name:
    P2X purinoceptor 4
    Protein Accession:
    Q99571
    Secondary Accessions:
    • E7EPF7
    • F6RU17
    • O00450
    • O14722
    • Q5U089
    • Q5U090
    • Q8N4N1
    • Q9UBG9

    Protein attributes for P2RX4 Gene

    Size:
    388 amino acids
    Molecular mass:
    43369 Da
    Quaternary structure:
    • Functional P2XRs are organized as homomeric and heteromeric trimers.

    Alternative splice isoforms for P2RX4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for P2RX4 Gene

Protein Expression for P2RX4 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for P2RX4 Gene

  • Glycosylation at Asn75, Asn110, Asn153, Asn184, Asn199, and Asn208
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • P2RX4_HUMAN (1590)

Other Protein References for P2RX4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for P2RX4 Gene

Domains & Families for P2RX4 Gene

Gene Families for P2RX4 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for P2RX4 Gene

InterPro:
Blocks:
  • ATP P2X receptor
  • P2X4 purinoceptor signature
ProtoNet:

Suggested Antigen Peptide Sequences for P2RX4 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50452, highly similar to P2X purinoceptor 4 (B7Z1M5_HUMAN)
  • P2X purinoceptor (B7Z4R5_HUMAN)
  • P2X purinoceptor (E7EPF7_HUMAN)
  • P2X purinoceptor (F5CTF4_HUMAN)
  • P2X purinoceptor (F6RU17_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q99571

UniProtKB/Swiss-Prot:

P2RX4_HUMAN :
  • Belongs to the P2X receptor family.
Family:
  • Belongs to the P2X receptor family.
genes like me logo Genes that share domains with P2RX4: view

Function for P2RX4 Gene

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  6. Cell Lines for research

Molecular function for P2RX4 Gene

UniProtKB/Swiss-Prot Function:
Receptor for ATP that acts as a ligand-gated ion channel. This receptor is insensitive to the antagonists PPADS and suramin.
GENATLAS Biochemistry:
purinoceptor,P2X4,ionotropic class,expressed in heart and spinal cord

Phenotypes From GWAS Catalog for P2RX4 Gene

Gene Ontology (GO) - Molecular Function for P2RX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0001614 purinergic nucleotide receptor activity IEA,IMP 11606481
GO:0004931 extracellularly ATP-gated cation channel activity IEA,IDA 9016352
GO:0005102 signaling receptor binding ISS 17785580
GO:0005216 ion channel activity IEA --
genes like me logo Genes that share ontologies with P2RX4: view
genes like me logo Genes that share phenotypes with P2RX4: view

Animal Models for P2RX4 Gene

MGI Knock Outs for P2RX4:

Animal Models for research

  • Taconic Biosciences Mouse Models for P2RX4

miRNA for P2RX4 Gene

miRTarBase miRNAs that target P2RX4

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for P2RX4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for P2RX4 Gene

Localization for P2RX4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for P2RX4 Gene

Membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for P2RX4 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 4
lysosome 4
cytoskeleton 3
cytosol 3
mitochondrion 2
endoplasmic reticulum 2
endosome 2
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for P2RX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005639 integral component of nuclear inner membrane IBA 21873635
GO:0005765 lysosomal membrane HDA 17897319
GO:0005886 plasma membrane ISS,TAS 17299767
GO:0005887 integral component of plasma membrane IEA,ISS --
GO:0014069 postsynaptic density IEA --
genes like me logo Genes that share ontologies with P2RX4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for P2RX4 Gene

Pathways & Interactions for P2RX4 Gene

genes like me logo Genes that share pathways with P2RX4: view

Pathways by source for P2RX4 Gene

1 Qiagen pathway for P2RX4 Gene
  • Intracellular Calcium Signaling
2 Cell Signaling Technology pathways for P2RX4 Gene

Gene Ontology (GO) - Biological Process for P2RX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001894 tissue homeostasis NAS 17264311
GO:0002028 regulation of sodium ion transport ISS 17785580
GO:0002931 response to ischemia ISS --
GO:0006811 ion transport IEA --
GO:0007165 signal transduction IDA 9016352
genes like me logo Genes that share ontologies with P2RX4: view

No data available for SIGNOR curated interactions for P2RX4 Gene

Drugs & Compounds for P2RX4 Gene

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(15) Drugs for P2RX4 Gene - From: DrugBank, ApexBio, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Eslicarbazepine Approved Pharma Target 0
Eslicarbazepine acetate Approved Pharma Target, antagonist 69
Promethazine Approved, Investigational Pharma Target, inhibitor 492
Ivermectin Approved, Investigational, Vet_approved Pharma NAChR/purinergic P2X4 receptor modulator 159
KN-93 Pharma CaMKII inhibitor,selective and cometitive 0

(4) Additional Compounds for P2RX4 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ATPgammaS tetralithium salt
93839-89-5

(5) Tocris Compounds for P2RX4 Gene

Compound Action Cas Number
2-Methylthioadenosine triphosphate tetrasodium salt P2 purinergic agonist 100020-57-3
ATPgammaS tetralithium salt P2 agonist; ATP (Cat. No. 3245) analog 93839-89-5
NF 157 Selective P2Y11/P2X1 antagonist 104869-26-3
PPADS tetrasodium salt P2 purinergic antagonist 192575-19-2
Suramin hexasodium salt Non-selective P2 antagonist 129-46-4

(2) ApexBio Compounds for P2RX4 Gene

Compound Action Cas Number
Ivermectin NAChR/purinergic P2X4 receptor modulator 70288-86-7
KN-93 CaMKII inhibitor,selective and cometitive 139298-40-1
genes like me logo Genes that share compounds with P2RX4: view

Drug products for research

Transcripts for P2RX4 Gene

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mRNA/cDNA for P2RX4 Gene

6 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for P2RX4

Alternative Splicing Database (ASD) splice patterns (SP) for P2RX4 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14
SP1: - - - - -
SP2: - -
SP3: - - - -
SP4: - -
SP5: - - - -
SP6: - - - - -
SP7: -
SP8: -
SP9:

Relevant External Links for P2RX4 Gene

GeneLoc Exon Structure for
P2RX4

Expression for P2RX4 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for P2RX4 Gene

mRNA expression in normal human tissues for P2RX4 Gene
mRNA expression by GTEx for P2RX4 GenemRNA expression by BioGPS for P2RX4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for P2RX4 Gene

This gene is overexpressed in Liver (22.4), Islet of Langerhans (10.6), and Placenta (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for P2RX4 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for P2RX4

SOURCE GeneReport for Unigene cluster for P2RX4 Gene:

Hs.321709

Evidence on tissue expression from TISSUES for P2RX4 Gene

  • Nervous system(4.6)
  • Kidney(4.5)
  • Blood(4.5)
  • Liver(4.4)
  • Muscle(2.3)
  • Heart(2.2)
  • Spleen(2.2)
  • Lung(2.2)
  • Lymph node(2.2)
  • Intestine(2.1)
  • Bone marrow(2)
genes like me logo Genes that share expression patterns with P2RX4: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for P2RX4 Gene

Orthologs for P2RX4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for P2RX4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia P2RX4 30 31
  • 99.48 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia P2X4 31
  • 90 (a)
 OneToOne
P2RX4 30
  • 89 (n)
Cow
(Bos Taurus)
 Mammalia P2RX4 30 31
  • 87.71 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia P2rx4 30
  • 86 (n)
Mouse
(Mus musculus)
 Mammalia P2rx4 30 17 31
  • 85.4 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia P2RX4 31
  • 76 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia P2RX4 31
  • 67 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves P2RX4 30 31
  • 74.67 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia P2RX4 31
  • 75 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia p2rx4 30
  • 68.5 (n)
African clawed frog
(Xenopus laevis)
 Amphibia LOC398206 30
Zebrafish
(Danio rerio)
 Actinopterygii p2rx4a 30 31
  • 61.28 (n)
 OneToMany
p2rx4b 31
  • 50 (a)
 OneToMany
Species where no ortholog for P2RX4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for P2RX4 Gene

ENSEMBL:
Gene Tree for P2RX4 (if available)
TreeFam:
Gene Tree for P2RX4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for P2RX4: view image

Paralogs for P2RX4 Gene

Paralogs for P2RX4 Gene

(7) SIMAP similar genes for P2RX4 Gene using alignment to 8 proteins:

  • P2RX4_HUMAN
  • B7Z1M5_HUMAN
  • B7Z4R5_HUMAN
  • F5GZQ9_HUMAN
  • F5H1M6_HUMAN
  • F5H2S3_HUMAN
  • H0YF70_HUMAN
  • K4KBD6_HUMAN
genes like me logo Genes that share paralogs with P2RX4: view

Variants for P2RX4 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for P2RX4 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs11829316 Benign: not provided 121,232,987(+) C/G
NM_002560.3(P2RX4):c.1045-10C>G 		INTRON
rs147410500 Likely Benign: not provided 121,232,422(+) A/C
NM_002560.3(P2RX4):c.893A>C (p.Lys298Thr) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs181464224 Benign: not provided 121,232,515(+) G/A
NM_002560.3(P2RX4):c.978+8G>A 		INTRON
rs200492184 Benign: not provided. - 121,210,171(+) G/Tp.Gly3Cys
NM_002560.3(P2RX4):c.7G>T (p.Gly3Cys) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs200553138 Likely Benign: not provided 121,217,193(+) C/T
NM_002560.3(P2RX4):c.194C>T (p.Thr65Met) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for P2RX4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for P2RX4 Gene

Variant ID Type Subtype PubMed ID
nsv1054878 CNV gain 25217958
nsv455731 CNV loss 19166990
nsv521928 CNV gain 19592680
nsv560454 CNV loss 21841781
nsv560455 CNV gain 21841781
nsv560456 CNV loss 21841781

Variation tolerance for P2RX4 Gene

Residual Variation Intolerance Score: 46.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.90; 83.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for P2RX4 Gene

Human Gene Mutation Database (HGMD)
P2RX4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
P2RX4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for P2RX4 Gene

Disorders for P2RX4 Gene

MalaCards: The human disease database

(8) MalaCards diseases for P2RX4 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
posterior cerebral artery infarction
  • infarction, posterior cerebral artery
chronic fatigue syndrome
  • cfs
anterior cerebral artery infarction
  • infarction, anterior cerebral artery
chronic pain
  • pain - chronic
paine syndrome
  • microcephaly with spastic diplegia
- elite association - COSMIC cancer census association via MalaCards
Search P2RX4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for P2RX4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with P2RX4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for P2RX4 Gene

Publications for P2RX4 Gene

  1. Ambulatory blood pressure is associated with polymorphic variation in P2X receptor genes. (PMID: 18852390) Palomino-Doza J … Keavney B (Hypertension (Dallas, Tex. : 1979) 2008) 3 23 41
  2. Characterization of recombinant human P2X4 receptor reveals pharmacological differences to the rat homologue. (PMID: 9016352) Garcia-Guzman M … Stühmer W (Molecular pharmacology 1997) 2 3 4
  3. Purinergic receptors P2RX4 and P2RX7 in familial multiple sclerosis. (PMID: 28326637) Sadovnick AD … Vilariño-Güell C (Human mutation 2017) 3 4
  4. A rare functional haplotype of the P2RX4 and P2RX7 genes leads to loss of innate phagocytosis and confers increased risk of age-related macular degeneration. (PMID: 23303206) Gu BJ … Wiley JS (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2013) 3 4
  5. A loss-of-function polymorphism in the human P2X4 receptor is associated with increased pulse pressure. (PMID: 22068874) Stokes L … Wiley JS (Hypertension (Dallas, Tex. : 1979) 2011) 3 4

ExternalLinks

View latest publications for P2RX4 gene in Mastermind

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