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P2RX2 purinergic receptor P2X 2 [ Homo sapiens (human) ]

Gene ID: 22953, updated on 12-May-2016
Official Symbol
P2RX2provided by HGNC
Official Full Name
purinergic receptor P2X 2provided by HGNC
Primary source
HGNC:HGNC:15459
See related
Ensembl:ENSG00000187848 HPRD:15984; MIM:600844; Vega:OTTHUMG00000168018
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
P2X2; DFNA41
Summary
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]
Orthologs
Location:
12q24.33
Exon count:
10
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 12 NC_000012.12 (132618780..132622462)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (133195393..133198972)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370094 Neighboring gene uncharacterized LOC105370093 Neighboring gene leucine-rich colipase like 1 Neighboring gene polymerase (DNA) epsilon, catalytic subunit Neighboring gene peroxisomal membrane protein 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Calcium signaling pathway, organism-specific biosystem (from KEGG)
    Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Calcium signaling pathway, conserved biosystem (from KEGG)
    Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Elevation of cytosolic Ca2+ levels, organism-specific biosystem (from REACTOME)
    Elevation of cytosolic Ca2+ levels, organism-specific biosystemActivation of non- excitable cells involves the agonist-induced elevation of cytosolic Ca2+, an essential process for platelet activation. It occurs through Ca2+ release from intracellular stores and...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, organism-specific biosystem
    Neuroactive ligand-receptor interaction
  • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, conserved biosystem
    Neuroactive ligand-receptor interaction
  • Platelet calcium homeostasis, organism-specific biosystem (from REACTOME)
    Platelet calcium homeostasis, organism-specific biosystemCa2+ homeostasis is controlled by processes that elevate or counter the elevation of cytosolic Ca2+. During steady state conditions, cytoplasmic Ca2+ is reduced by the accumulation of Ca2+ in intrac...
  • Platelet homeostasis, organism-specific biosystem (from REACTOME)
    Platelet homeostasis, organism-specific biosystemUnder normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhesion and activation, suppresses coagulation, enhances fibrin cleavage and is anti-inflammatory in charact...
  • Taste transduction, organism-specific biosystem (from KEGG)
    Taste transduction, organism-specific biosystemFive basic tastes are recognized by humans and most other animals - bitter, sweet, sour, salty and umami. In vertebrates, taste stimuli are detected by taste receptor cells (TRCs). At least three dis...
  • Taste transduction, conserved biosystem (from KEGG)
    Taste transduction, conserved biosystemFive basic tastes are recognized by humans and most other animals - bitter, sweet, sour, salty and umami. In vertebrates, taste stimuli are detected by taste receptor cells (TRCs). At least three dis...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC129601

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding NAS
Non-traceable Author Statement
more info
PubMed 
extracellular ATP-gated cation channel activity IDA
Inferred from Direct Assay
more info
PubMed 
extracellular ATP-gated cation channel activity NAS
Non-traceable Author Statement
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ligand-gated ion channel activity TAS
Traceable Author Statement
more info
PubMed 
purinergic nucleotide receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
purinergic nucleotide receptor activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
behavioral response to pain IEA
Inferred from Electronic Annotation
more info
 
blood coagulation TAS
Traceable Author Statement
more info
 
cation transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
detection of hypoxic conditions in blood by carotid body chemoreceptor signaling IEA
Inferred from Electronic Annotation
more info
 
neuromuscular junction development IEA
Inferred from Electronic Annotation
more info
 
neuromuscular synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
peristalsis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of calcium ion transport into cytosol NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of calcium-mediated signaling NAS
Non-traceable Author Statement
more info
PubMed 
protein homooligomerization IPI
Inferred from Physical Interaction
more info
PubMed 
purinergic nucleotide receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
response to ATP IEA
Inferred from Electronic Annotation
more info
 
response to carbohydrate IEA
Inferred from Electronic Annotation
more info
 
response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
sensory perception of taste IEA
Inferred from Electronic Annotation
more info
 
skeletal muscle fiber development IEA
Inferred from Electronic Annotation
more info
 
urinary bladder smooth muscle contraction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of nuclear inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
P2X purinoceptor 2
Names
ATP receptor
P2X Receptor, subunit 2
purinergic receptor P2X, ligand gated ion channel, 2
purinergic receptor P2X, ligand-gated ion channel, 2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033909.1 RefSeqGene

    Range
    5001..8607
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001282164.1NP_001269093.1  P2X purinoceptor 2 isoform J

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks three alternate in-frame segments in the 5' and 3' ends and two alternate segments in the middle compared to variant 4, that cause a frameshift. The resulting isoform (J) lacks three alternate segments and contains a different internal segment compared to isoform D.
    Source sequence(s)
    AC131212, AF190822, AF260426, AY346374, BC109200
    Consensus CDS
    CCDS61286.1
    UniProtKB/Swiss-Prot
    Q9UBL9
    UniProtKB/TrEMBL
    Q32MC3
    Related
    ENSP00000405531, OTTHUMP00000237598, ENST00000449132, OTTHUMT00000397543
    Conserved Domains (1) summary
    cl02993
    Location:13344
    P2X_receptor; ATP P2X receptor
  2. NM_001282165.1NP_001269094.1  P2X purinoceptor 2 isoform K

    See identical proteins and their annotated locations for NP_001269094.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) uses an alternate splice junction at the 3' end of an exon compared to variant 4, that causes a frameshift. The resulting isoform (K) has a shorter and distinct C-terminus compared to isoform D.
    Source sequence(s)
    AC131212, AF190822, AF260426, BC109200
    Consensus CDS
    CCDS73548.1
    UniProtKB/Swiss-Prot
    Q9UBL9
    UniProtKB/TrEMBL
    Q32MC3
    Related
    ENSP00000444477, OTTHUMP00000275106, ENST00000542301, OTTHUMT00000397549
    Conserved Domains (1) summary
    cl02993
    Location:13332
    P2X_receptor; ATP P2X receptor
  3. NM_012226.4NP_036358.2  P2X purinoceptor 2 isoform I

    See identical proteins and their annotated locations for NP_036358.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an alternate in-frame segment in the 3' end and two alternate exons in the 5' end, that cause a frameshifts. The resulting isoform (I) has an alternate internal segment in the 5' end and and lacks an alternate in-frame segment in the 3' end compared to isoform D.
    Source sequence(s)
    AC131212, AF190822, AF260426, AF260429, BC109200
    Consensus CDS
    CCDS31934.1
    UniProtKB/Swiss-Prot
    Q9UBL9
    UniProtKB/TrEMBL
    Q32MC3
    Related
    ENSP00000341419, OTTHUMP00000237600, ENST00000352418, OTTHUMT00000397545
    Conserved Domains (1) summary
    cl02993
    Location:13306
    P2X_receptor; ATP P2X receptor
  4. NM_016318.3NP_057402.1  P2X purinoceptor 2 isoform C

    See identical proteins and their annotated locations for NP_057402.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame segment in the 5' end and one in the 3' end compared to variant 4. The resulting isoform (C) has the same N- and C-termini but is shorter compared to isoform D.
    Source sequence(s)
    AF190822, AF190824, AF260426, BC109200
    Consensus CDS
    CCDS31933.1
    UniProtKB/Swiss-Prot
    Q9UBL9
    UniProtKB/TrEMBL
    Q32MC3
    Related
    ENSP00000343904, OTTHUMP00000237601, ENST00000350048, OTTHUMT00000397546
    Conserved Domains (1) summary
    cl02993
    Location:13354
    P2X_receptor; ATP P2X receptor
  5. NM_170682.3NP_733782.1  P2X purinoceptor 2 isoform A

    See identical proteins and their annotated locations for NP_733782.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an alternate in-frame segment in the 3' end compared to variant 4. The resulting isoform (A) has the same N- and C-termini but is shorter compared to isoform D.
    Source sequence(s)
    AC131212, AF190822, AF260426, BC109200
    Consensus CDS
    CCDS31931.1
    UniProtKB/Swiss-Prot
    Q9UBL9
    UniProtKB/TrEMBL
    Q32MC3
    Related
    ENSP00000373762, OTTHUMP00000237597, ENST00000389110, OTTHUMT00000397542
    Conserved Domains (1) summary
    TIGR00863
    Location:13378
    P2X; cation transporter protein
  6. NM_170683.3NP_733783.1  P2X purinoceptor 2 isoform D

    See identical proteins and their annotated locations for NP_733783.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) encodes the longest isoform (D).
    Source sequence(s)
    AC131212, AF190822, AF190825, AF260426, BC109200
    Consensus CDS
    CCDS31930.1
    UniProtKB/Swiss-Prot
    Q9UBL9
    UniProtKB/TrEMBL
    Q32MC3
    Related
    ENSP00000343339, OTTHUMP00000237599, ENST00000343948, OTTHUMT00000397544
    Conserved Domains (1) summary
    TIGR00863
    Location:13404
    P2X; cation transporter protein
  7. NM_174872.2NP_777361.1  P2X purinoceptor 2 isoform H

    See identical proteins and their annotated locations for NP_777361.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate in-frame segment in the 5' UTR and one in the 3' UTR compared to variant 4. The resulting isoform (H) has the same N- and C-termini but is shorter compared to isoform D.
    Source sequence(s)
    AC131212, AF190822, AF260426, AF260428, BC109200
    Consensus CDS
    CCDS31935.1
    UniProtKB/Swiss-Prot
    Q9UBL9
    UniProtKB/TrEMBL
    Q32MC3
    Related
    ENSP00000344502, OTTHUMP00000237602, ENST00000351222, OTTHUMT00000397547
    Conserved Domains (1) summary
    cl02993
    Location:36286
    P2X_receptor; ATP P2X receptor
  8. NM_174873.2NP_777362.1  P2X purinoceptor 2 isoform B

    See identical proteins and their annotated locations for NP_777362.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two alternate in-frame segments in the 3' end compared to variant 4. The resulting isoform (B) has the same N- and C-termini but is shorter compared to isoform D.
    Source sequence(s)
    AC131212, AF190822, AF190823, AF260426, BC109200
    Consensus CDS
    CCDS31932.1
    UniProtKB/Swiss-Prot
    Q9UBL9
    UniProtKB/TrEMBL
    Q32MC3
    Related
    ENSP00000345095, OTTHUMP00000237603, ENST00000348800, OTTHUMT00000397548
    Conserved Domains (1) summary
    TIGR00863
    Location:13378
    P2X; cation transporter protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p2 Primary Assembly

    Range
    132618780..132622462
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005266155.3XP_005266212.1  

    Conserved Domains (1) summary
    TIGR00863
    Location:13404
    P2X; cation transporter protein
  2. XM_005266156.3XP_005266213.1  

    Conserved Domains (1) summary
    TIGR00863
    Location:13404
    P2X; cation transporter protein
  3. XM_005266154.2XP_005266211.1  

    Conserved Domains (1) summary
    TIGR00863
    Location:13419
    P2X; cation transporter protein
  4. XM_011534786.1XP_011533088.1  

    Conserved Domains (1) summary
    cl02993
    Location:13380
    P2X_receptor; ATP P2X receptor

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

    Range
    133014941..133018311
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)