The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2013] See more...

Aliases for P2RX2 Gene

Aliases for P2RX2 Gene

  • Purinergic Receptor P2X 2 2 3 5
  • P2X Purinoceptor 2 3 4
  • ATP Receptor 3 4
  • P2X2 3 4
  • Purinergic Receptor P2X, Ligand Gated Ion Channel, 2 3
  • Purinergic Receptor P2X, Ligand-Gated Ion Channel, 2 2
  • Deafness, Autosomal Dominant 41 2
  • P2X Receptor, Subunit 2 3
  • Purinergic Receptor 4
  • DFNA41 3

External Ids for P2RX2 Gene

Previous HGNC Symbols for P2RX2 Gene

  • DFNA41

Previous GeneCards Identifiers for P2RX2 Gene

  • GC00U990510
  • GC12M132628
  • GC12P132820
  • GC12P131434
  • GC12P131805
  • GC12P131705
  • GC12P133195
  • GC12P129975

Summaries for P2RX2 Gene

Entrez Gene Summary for P2RX2 Gene

  • The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2013]

GeneCards Summary for P2RX2 Gene

P2RX2 (Purinergic Receptor P2X 2) is a Protein Coding gene. Diseases associated with P2RX2 include Deafness, Autosomal Dominant 41 and Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna. Among its related pathways are Peptide ligand-binding receptors and CREB Pathway. Gene Ontology (GO) annotations related to this gene include identical protein binding and phosphatidylinositol binding. An important paralog of this gene is P2RX3.

UniProtKB/Swiss-Prot Summary for P2RX2 Gene

  • Ion channel gated by extracellular ATP involved in a variety of cellular responses, such as excitatory postsynaptic responses in sensory neurons, neuromuscular junctions (NMJ) formation, hearing, perception of taste and peristalsis. In the inner ear, regulates sound transduction and auditory neurotransmission, outer hair cell electromotility, inner ear gap junctions, and K(+) recycling. Mediates synaptic transmission between neurons and from neurons to smooth muscle.

Tocris Summary for P2RX2 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 P2RX2 Gene

Additional gene information for P2RX2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for P2RX2 Gene

Genomics for P2RX2 Gene

GeneHancer (GH) Regulatory Elements for P2RX2 Gene

Promoters and enhancers for P2RX2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J132618 Promoter 1.2 EPDnew Ensembl 500.7 -0.2 -176 0.8 ZIC2 ZBTB26 EZH2 SP2 ZNF76 POLR2G PHF8 TCF12 KLF8 E2F6 P2RX2 POLE ANKLE2 LRCOL1
GH12J132827 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 6.3 +209.7 209715 2.6 ZBTB40 ZNF217 EP300 SIN3A NRF1 TCF12 POLR2G SP1 GTF2E2 PHF8 GOLGA3 ANKLE2 ZNF26 ZNF140 CHFR EP400 ZNF891 ZNF268 NOC4L RPS11P5
GH12J132593 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 8.2 -22.0 -21975 6.4 NRF1 ZNF300 RBAK TEAD4 ZNF639 ZIC2 ZBTB10 ZNF423 ZBTB26 RFX1 LOC105370094 lnc-FBRSL1-5 ZNF140 EP400 ZNF84 ZNF268 ZNF26 ZNF891 GOLGA3 ZNF605
GH12J132600 Enhancer 1.1 ENCODE CraniofacialAtlas 9.4 -18.1 -18061 1.4 CTCF ZIC2 GABPA TARDBP REST MYC RAD21 CTBP1 ZBTB7A ZBTB26 P2RX2 POLE LRCOL1 GOLGA3 lnc-FBRSL1-5 LOC105370094 lnc-P2RX2-1
GH12J132601 Enhancer 1 FANTOM5 ENCODE CraniofacialAtlas 9.4 -15.8 -15828 2.8 EZH2 NR2F2 SAFB NRF1 EGR1 PRDM10 ZBTB33 STAT2 YY1 CEBPB POLE PXMP2 ENSG00000256632 LRCOL1 P2RX2 ZNF10 lnc-P2RX2-1 LOC105370094 lnc-LRCOL1-2 lnc-FBRSL1-5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around P2RX2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for P2RX2

Top Transcription factor binding sites by QIAGEN in the P2RX2 gene promoter:
  • AML1a
  • ATF6
  • FOXO3
  • FOXO3a
  • FOXO3b
  • ITF-2
  • p53
  • POU3F1
  • STAT3

Genomic Locations for P2RX2 Gene

Genomic Locations for P2RX2 Gene
chr12:132,618,776-132,622,462
(GRCh38/hg38)
Size:
3,687 bases
Orientation:
Plus strand
chr12:133,195,366-133,198,972
(GRCh37/hg19)
Size:
3,607 bases
Orientation:
Plus strand

Genomic View for P2RX2 Gene

Genes around P2RX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
P2RX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for P2RX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for P2RX2 Gene

Proteins for P2RX2 Gene

  • Protein details for P2RX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBL9-P2RX2_HUMAN
    Recommended name:
    P2X purinoceptor 2
    Protein Accession:
    Q9UBL9
    Secondary Accessions:
    • A6NGB4
    • A6NH93
    • A6NHC2
    • A6NHU3
    • A6NIG9
    • Q6V9R6
    • Q9NR37
    • Q9NR38
    • Q9UHD5
    • Q9UHD6
    • Q9UHD7
    • Q9Y637
    • Q9Y638

    Protein attributes for P2RX2 Gene

    Size:
    471 amino acids
    Molecular mass:
    51754 Da
    Quaternary structure:
    • Homotrimer and heterotrimer; functional P2XRs are organized as homomeric and heteromeric trimers.

    Alternative splice isoforms for P2RX2 Gene

neXtProt entry for P2RX2 Gene

Post-translational modifications for P2RX2 Gene

  • Glycosylation at Asn133, Asn194, and Asn310
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for P2RX2 Gene

Domains & Families for P2RX2 Gene

Gene Families for P2RX2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for P2RX2 Gene

Blocks:
  • ATP P2X receptor
  • P2X2 purinoceptor signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for P2RX2 Gene

GenScript: Design optimal peptide antigens:
  • P2X purinoceptor (D3DXI8_HUMAN)
  • Purinergic receptor (P2RX2_HUMAN)
  • P2X purinoceptor (Q32MC3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UBL9

UniProtKB/Swiss-Prot:

P2RX2_HUMAN :
  • Belongs to the P2X receptor family.
Family:
  • Belongs to the P2X receptor family.
genes like me logo Genes that share domains with P2RX2: view

Function for P2RX2 Gene

Molecular function for P2RX2 Gene

UniProtKB/Swiss-Prot Function:
Ion channel gated by extracellular ATP involved in a variety of cellular responses, such as excitatory postsynaptic responses in sensory neurons, neuromuscular junctions (NMJ) formation, hearing, perception of taste and peristalsis. In the inner ear, regulates sound transduction and auditory neurotransmission, outer hair cell electromotility, inner ear gap junctions, and K(+) recycling. Mediates synaptic transmission between neurons and from neurons to smooth muscle.

Phenotypes From GWAS Catalog for P2RX2 Gene

Gene Ontology (GO) - Molecular Function for P2RX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001614 purinergic nucleotide receptor activity IEA,NAS 17895406
GO:0004931 extracellularly ATP-gated cation channel activity NAS,IEA 17895406
GO:0005216 ion channel activity IEA --
GO:0005524 ATP binding NAS,IEA 17895406
GO:0015276 ligand-gated ion channel activity TAS 9119082
genes like me logo Genes that share ontologies with P2RX2: view
genes like me logo Genes that share phenotypes with P2RX2: view

Human Phenotype Ontology for P2RX2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for P2RX2 Gene

MGI Knock Outs for P2RX2:

Animal Model Products

CRISPR Products

miRNA for P2RX2 Gene

miRTarBase miRNAs that target P2RX2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for P2RX2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for P2RX2 Gene

Localization for P2RX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for P2RX2 Gene

Cell membrane; Multi-pass membrane protein. Note=Localizes to the apical membranes of hair cells in the organ of Corti.

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 P2RX2 gene
Compartment Confidence
plasma membrane 5
nucleus 4
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for P2RX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005639 integral component of nuclear inner membrane IBA 21873635
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA,IEA 23345450
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with P2RX2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for P2RX2 Gene

Pathways & Interactions for P2RX2 Gene

genes like me logo Genes that share pathways with P2RX2: view

Pathways by source for P2RX2 Gene

1 Qiagen pathway for P2RX2 Gene
  • Intracellular Calcium Signaling

Gene Ontology (GO) - Biological Process for P2RX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0002931 response to ischemia ISS --
GO:0003029 detection of hypoxic conditions in blood by carotid body chemoreceptor signaling IEA --
GO:0006811 ion transport IEA --
GO:0007268 chemical synaptic transmission IEA --
genes like me logo Genes that share ontologies with P2RX2: view

No data available for SIGNOR curated interactions for P2RX2 Gene

Drugs & Compounds for P2RX2 Gene

(29) Drugs for P2RX2 Gene - From: ApexBio, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
2-Methylthioadenosine triphosphate tetrasodium salt Pharma P2 purinergic agonist 0
NF 157 Pharma Selective P2Y11/P2X1 antagonist 0
PPADS tetrasodium salt Pharma P2 purinergic antagonist 0
Suramin hexasodium salt Pharma Non-selective P2 antagonist 0
A-317491 Pharma P2X3 and P2X2/3 receptor antagonist 0

(4) Additional Compounds for P2RX2 Gene - From: Novoseek and Tocris

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

(5) Tocris Compounds for P2RX2 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

(21) ApexBio Compounds for P2RX2 Gene

Compound Action Cas Number
2-Methylthioadenosine triphosphate tetrasodium salt 100020-57-3
A-317491 P2X3 and P2X2/3 receptor antagonist 475205-49-3
A-317491 sodium salt hydrate P2X3 and P2X2/3 receptors antagonist
BzATP triethylammonium salt 112898-15-4
iso-PPADS tetrasodium salt P2 purinoceptors antagonist, specific 207572-67-6
KN-92 hydrochloride Inactive derivative of KN-93,control compound 1431698-47-3
MRS 2219 14141-47-0
NF 023 104869-31-0
NF 110 111150-22-2
NF 157 104869-26-3
NF 279 202983-32-2
NF 449 purinergic receptor antagonist 627034-85-9
PPADS tetrasodium salt 192575-19-2
PPNDS 1021868-77-8
Purotoxin 1 1396322-38-5
Ro 0437626 134362-79-1
Ro 51 1050670-85-3
RO-3 1026582-88-6
Suramin hexasodium salt 129-46-4
TC-P 262 873398-67-5
TNP-ATP triethylammonium salt 61368-63-6
genes like me logo Genes that share compounds with P2RX2: view

Drug Products

Transcripts for P2RX2 Gene

mRNA/cDNA for P2RX2 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for P2RX2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for P2RX2 Gene

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

Relevant External Links for P2RX2 Gene

GeneLoc Exon Structure for
P2RX2

Expression for P2RX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for P2RX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for P2RX2 Gene

This gene is overexpressed in Prostate (x6.5), Brain - Hippocampus (x6.0), Esophagus - Gastroesophageal Junction (x5.9), and Esophagus - Muscularis (x5.5).

Protein differential expression in normal tissues from HIPED for P2RX2 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for P2RX2 Gene



Protein tissue co-expression partners for P2RX2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for P2RX2

SOURCE GeneReport for Unigene cluster for P2RX2 Gene:

Hs.258580

Evidence on tissue expression from TISSUES for P2RX2 Gene

  • Nervous system(4.5)
  • Kidney(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for P2RX2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • head
  • inner ear
  • middle ear
  • outer ear
Thorax:
  • heart
  • heart valve
Limb:
  • forearm
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with P2RX2: view

No data available for mRNA Expression by UniProt/SwissProt for P2RX2 Gene

Orthologs for P2RX2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for P2RX2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia P2RX2 31 30
  • 95.26 (n)
OneToOne
cow
(Bos Taurus)
Mammalia P2RX2 31 30
  • 88.45 (n)
OneToOne
dog
(Canis familiaris)
Mammalia P2RX2 30
  • 87.4 (n)
P2X2 31
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia P2rx2 17 31 30
  • 83.09 (n)
rat
(Rattus norvegicus)
Mammalia P2rx2 30
  • 82.53 (n)
oppossum
(Monodelphis domestica)
Mammalia P2RX2 31
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia P2RX2 31
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves P2RX2 31 30
  • 69.49 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia P2RX2 31
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia p2rx2 30
  • 66.29 (n)
zebrafish
(Danio rerio)
Actinopterygii p2rx2 31 30 30
  • 59.89 (n)
OneToOne
Species where no ortholog for P2RX2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 squirt (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 P2RX2 Gene

ENSEMBL:
Gene Tree for P2RX2 (if available)
TreeFam:
Gene Tree for P2RX2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for P2RX2: view image

Paralogs for P2RX2 Gene

Paralogs for P2RX2 Gene

(6) SIMAP similar genes for P2RX2 Gene using alignment to 6 proteins:

  • P2RX2_HUMAN
  • D3DXI8_HUMAN
  • H0YF94_HUMAN
  • H0YGR7_HUMAN
  • H0YGU6_HUMAN
  • Q32MC3_HUMAN
genes like me logo Genes that share paralogs with P2RX2: view

Variants for P2RX2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for P2RX2 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
666900 Uncertain Significance: not specified 132,620,507(+) A/G MISSENSE_VARIANT,SYNONYMOUS_VARIANT
666901 Uncertain Significance: not specified 132,621,292(+) C/T MISSENSE_VARIANT
679961 Likely Benign: not provided 132,621,291(+) C/A SYNONYMOUS_VARIANT
680394 Likely Benign: not provided 132,621,327(+) C/T SYNONYMOUS_VARIANT
682259 Likely Benign: not provided 132,621,965(+) A/G MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for P2RX2 Gene

Structural Variations from Database of Genomic Variants (DGV) for P2RX2 Gene

Variant ID Type Subtype PubMed ID
esv1007069 CNV deletion 20482838
esv1521676 CNV deletion 17803354
esv2176473 CNV deletion 18987734
esv2422284 CNV deletion 17116639
esv2747027 CNV deletion 23290073
esv2747028 CNV deletion 23290073
nsv1037074 CNV gain 25217958
nsv1112259 CNV deletion 24896259
nsv1122790 CNV deletion 24896259
nsv1131057 CNV deletion 24896259
nsv1141401 CNV deletion 24896259
nsv52739 CNV deletion 16902084
nsv561109 CNV loss 21841781
nsv826563 CNV gain 20364138
nsv952512 CNV deletion 24416366

Variation tolerance for P2RX2 Gene

Residual Variation Intolerance Score: 67.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.55; 44.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for P2RX2 Gene

Human Gene Mutation Database (HGMD)
P2RX2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
P2RX2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for P2RX2 Gene

Disorders for P2RX2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for P2RX2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal dominant 41
  • dfna41
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
neurogenic bladder
  • neurogenic dysfunction of the urinary bladder
detrusor sphincter dyssynergia
  • detrusor and sphincter dyssynergia
deafness, autosomal recessive 40
  • dfnb40
- elite association - COSMIC cancer census association via MalaCards
Search P2RX2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

P2RX2_HUMAN
  • Deafness, autosomal dominant, 41 (DFNA41) [MIM:608224]: A form of non-syndromic deafness characterized by onset of progressive sensorineural hearing loss usually in the second decade. The hearing loss is severe and ultimately affects all frequencies. Exposure to noise exacerbates the hearing loss, particularly at high frequencies. {ECO:0000269 PubMed:23345450, ECO:0000269 PubMed:24211385}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for P2RX2

genes like me logo Genes that share disorders with P2RX2: view

No data available for Genatlas for P2RX2 Gene

Publications for P2RX2 Gene

  1. Molecular and functional characterization of human P2X(2) receptors. (PMID: 10570044) Lynch KJ … Jarvis MF (Molecular pharmacology 1999) 2 3 4 23 54
  2. Mutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noise. (PMID: 23345450) Yan D … Liu XZ (Proceedings of the National Academy of Sciences of the United States of America 2013) 2 3 4 54
  3. A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss. (PMID: 24211385) Faletra F … Gasparini P (Gene 2014) 3 4 54
  4. Expression of purinergic P2X2-receptors in neurogenic bladder dysfunction due to spinal cord injury: a preliminary immunohistochemical study. (PMID: 19104511) Pannek J … Tannapfel A (Spinal cord 2009) 3 23 54
  5. Cysteine substitution mutagenesis and the effects of methanethiosulfonate reagents at P2X2 and P2X4 receptors support a core common mode of ATP action at P2X receptors. (PMID: 18487206) Roberts JA … Evans RJ (The Journal of biological chemistry 2008) 3 23 54

Products for P2RX2 Gene

Sources for P2RX2 Gene