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

    Gene ID: 22953, updated on 30-Jun-2024

    Summary

    Official Symbol
    P2RX2provided by HGNC
    Official Full Name
    purinergic receptor P2X 2provided by HGNC
    Primary source
    HGNC:HGNC:15459
    See related
    Ensembl:ENSG00000187848 MIM:600844; AllianceGenome:HGNC:15459
    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]
    Expression
    Biased expression in prostate (RPKM 1.9), spleen (RPKM 0.8) and 13 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See P2RX2 in Genome Data Viewer
    Location:
    12q24.33
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (132618776..132622388)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (132668996..132672547)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (133195362..133198974)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370094 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:133177517-133178052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:133178053-133178587 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:133180217-133180843 Neighboring gene leucine rich colipase like 1 Neighboring gene DNA polymerase epsilon, catalytic subunit Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5123 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26027 Neighboring gene peroxisomal membrane protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:133280509-133281382 Neighboring gene uncharacterized LOC124903063

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC129601

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in behavioral response to pain IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in calcium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in detection of hypoxic conditions in blood by carotid body chemoreceptor signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in excitatory postsynaptic potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuromuscular junction development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuromuscular synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in peristalsis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of calcium ion transport into cytosol NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of calcium-mediated signaling NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in purinergic nucleotide receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to ATP IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to carbohydrate IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to ischemia ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sensory perception of taste IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal muscle fiber development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in urinary bladder smooth muscle contraction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuronal cell body ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in neuronal dense core vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
     
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    P2X purinoceptor 2
    Names
    ATP receptor
    P2X Receptor, subunit 2
    purinergic receptor P2X, ligand gated ion channel, 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4997..8609
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001282164.2NP_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
      ENSP00000405531.2, ENST00000449132.6
      Conserved Domains (1) summary
      cl02993
      Location:13344
      P2X_receptor; ATP P2X receptor
    2. NM_001282165.2NP_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/TrEMBL
      H0YGR7, Q32MC3
      Related
      ENSP00000444477.2, ENST00000542301.2
      Conserved Domains (1) summary
      cl02993
      Location:13332
      P2X_receptor; ATP P2X receptor
    3. NM_012226.5NP_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
      ENSP00000341419.4, ENST00000352418.8
      Conserved Domains (1) summary
      cl02993
      Location:13306
      P2X_receptor; ATP P2X receptor
    4. NM_016318.4NP_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)
      AC131212, AF190822, AF190824, AF260426, BC109200
      Consensus CDS
      CCDS31933.1
      UniProtKB/Swiss-Prot
      Q9UBL9
      UniProtKB/TrEMBL
      Q32MC3
      Related
      ENSP00000343904.5, ENST00000350048.9
      Conserved Domains (1) summary
      cl02993
      Location:13354
      P2X_receptor; ATP P2X receptor
    5. NM_170682.4NP_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
      A6NGB4, A6NH93, A6NHC2, A6NHU3, A6NIG9, Q6V9R6, Q9NR37, Q9NR38, Q9UBL9, Q9UHD5, Q9UHD6, Q9UHD7, Q9Y637, Q9Y638
      Related
      ENSP00000494644.1, ENST00000643471.2
      Conserved Domains (1) summary
      TIGR00863
      Location:13378
      P2X; cation transporter protein
    6. NM_170683.4NP_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
      ENSP00000343339.4, ENST00000343948.8
      Conserved Domains (1) summary
      TIGR00863
      Location:13404
      P2X; cation transporter protein
    7. NM_174872.3NP_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
      ENSP00000344502.4, ENST00000351222.8
      Conserved Domains (1) summary
      cl02993
      Location:36286
      P2X_receptor; ATP P2X receptor
    8. NM_174873.3NP_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
      ENSP00000345095.5, ENST00000348800.9
      Conserved Domains (1) summary
      TIGR00863
      Location:13378
      P2X; cation transporter protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      132618776..132622388
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005266154.5XP_005266211.1  P2X purinoceptor 2 isoform X1

      Conserved Domains (1) summary
      TIGR00863
      Location:13419
      P2X; cation transporter protein
    2. XM_005266156.6XP_005266213.1  P2X purinoceptor 2 isoform X5

      Conserved Domains (1) summary
      TIGR00863
      Location:13404
      P2X; cation transporter protein
    3. XM_005266155.6XP_005266212.1  P2X purinoceptor 2 isoform X2

      Conserved Domains (1) summary
      TIGR00863
      Location:13404
      P2X; cation transporter protein
    4. XM_017019035.3XP_016874524.1  P2X purinoceptor 2 isoform X4

    5. XM_011534786.4XP_011533088.1  P2X purinoceptor 2 isoform X3

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      132668996..132672547
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371457.1XP_054227432.1  P2X purinoceptor 2 isoform X1

    2. XM_054371461.1XP_054227436.1  P2X purinoceptor 2 isoform X5

    3. XM_054371460.1XP_054227435.1  P2X purinoceptor 2 isoform X4

    4. XM_054371459.1XP_054227434.1  P2X purinoceptor 2 isoform X3

    5. XM_054371458.1XP_054227433.1  P2X purinoceptor 2 isoform X2

    6. XM_054371462.1XP_054227437.1  P2X purinoceptor 2 isoform X6