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P2RX6 purinergic receptor P2X 6 [ Homo sapiens (human) ]

Gene ID: 9127, updated on 22-Aug-2020

Summary

Official Symbol
P2RX6provided by HGNC
Official Full Name
purinergic receptor P2X 6provided by HGNC
Primary source
HGNC:HGNC:8538
See related
Ensembl:ENSG00000099957 MIM:608077
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
P2X6; P2XM; P2RXL1
Summary
The protein encoded by this gene belongs to the family of P2X receptors, which are ATP-gated ion channels and mediate rapid and selective permeability to cations. This gene is predominantly expressed in skeletal muscle, and regulated by p53. The encoded protein is associated with VE-cadherin at the adherens junctions of human umbilical vein endothelial cells. Alternative splicing results in multiple transcript variants. A related pseudogene, which is also located on chromosome 22, has been identified. [provided by RefSeq, Apr 2009]
Expression
Broad expression in spleen (RPKM 2.6), brain (RPKM 2.0) and 17 other tissues See more
Orthologs

Genomic context

See P2RX6 in Genome Data Viewer
Location:
22q11.21
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (21009699..21028013)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (21369442..21382302)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene leucine zipper like transcription regulator 1 Neighboring gene THAP domain containing 7 Neighboring gene THAP7 antisense RNA 1 Neighboring gene tubulin alpha 3f pseudogene Neighboring gene solute carrier family 7 member 4 Neighboring gene microRNA 649

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?

Phenotypes

Associated conditions

Description Tests
Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC129625

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding NAS
Non-traceable Author Statement
more info
PubMed 
channel activity TAS
Traceable Author Statement
more info
PubMed 
extracellularly ATP-gated cation channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellularly ATP-gated cation channel activity NAS
Non-traceable Author Statement
more info
PubMed 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
purinergic nucleotide receptor activity NAS
Non-traceable Author Statement
more info
PubMed 
transmembrane signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
blood coagulation TAS
Traceable Author Statement
more info
 
cation transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
 
muscle contraction TAS
Traceable Author Statement
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
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cell junction IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
dendritic spine IEA
Inferred from Electronic Annotation
more info
 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
integral component of nuclear inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
integral component of postsynaptic specialization membrane IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
parallel fiber to Purkinje cell synapse IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
receptor complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
P2X purinoceptor 6
Names
ATP receptor
purinergic receptor P2X, ligand gated ion channel, 6
purinergic receptor P2X-like 1, orphan receptor
purinoceptor P2X6
purinoreceptor P2X6
skeletal muscle-expressed P2X

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_001159554.1NP_001153026.1  P2X purinoceptor 6 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
    Source sequence(s)
    BC033488, BC109209, BI753477, CR456535
    Consensus CDS
    CCDS54504.1
    UniProtKB/Swiss-Prot
    O15547
    Related
    ENSP00000385309.1, ENST00000401443.5
    Conserved Domains (1) summary
    TIGR00863
    Location:11348
    P2X; cation transporter protein
  2. NM_001349874.1NP_001336803.1  P2X purinoceptor 6 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in its 5' region and lacks an alternate exon, resulting in use of an alternate start codon, compared to variant 1. The resulting isoform (3) contains a shorter and distinct N-terminus compared to isoform 1. Variants 3 and 4 encode the same isoform (3).
    Source sequence(s)
    AB002058, AC002472, AK309079, BC033488, BC109209, CR456535
    Conserved Domains (1) summary
    cl02993
    Location:4223
    P2X_receptor; ATP P2X receptor
  3. NM_001349875.1NP_001336804.1  P2X purinoceptor 6 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and lacks a portion of the 5' coding region, resulting in use of an alternate start codon, compared to variant 1. The resulting isoform (3) contains a shorter and distinct N-terminus compared to isoform 1. Variants 3 and 4 encode the same isoform (3).
    Source sequence(s)
    AC002472, AK309079, BC033488, BC064805, CR456535
    Conserved Domains (1) summary
    cl02993
    Location:4223
    P2X_receptor; ATP P2X receptor
  4. NM_001349876.1NP_001336805.1  P2X purinoceptor 6 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has multiple differences, compared to variant 1. These differences result in a longer 5' UTR, cause translation initiation at an alternate start codon, result in a translational frameshift, and a shorter 3' UTR, compared to variant 1. The resulting isoform (4) is shorter and has distinct N- and C-termini, compared to isoform 1.
    Source sequence(s)
    AB002058, AC002472, BC033488, BC109209, CR456535
    Conserved Domains (1) summary
    cl02993
    Location:4109
    P2X_receptor; ATP P2X receptor
  5. NM_005446.4NP_005437.2  P2X purinoceptor 6 isoform 1

    See identical proteins and their annotated locations for NP_005437.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB002058, AC002472, BC033488, BC064805
    Consensus CDS
    CCDS13788.2
    UniProtKB/Swiss-Prot
    O15547
    Related
    ENSP00000416193.2, ENST00000413302.6
    Conserved Domains (1) summary
    TIGR00863
    Location:11374
    P2X; cation transporter protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    21009699..21028013
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029075.1XP_016884564.1  P2X purinoceptor 6 isoform X11

    Conserved Domains (1) summary
    cl02993
    Location:4223
    P2X_receptor; ATP P2X receptor
  2. XM_011530499.2XP_011528801.1  P2X purinoceptor 6 isoform X2

    Conserved Domains (1) summary
    cl02993
    Location:11306
    P2X_receptor; ATP P2X receptor
  3. XM_011530498.2XP_011528800.1  P2X purinoceptor 6 isoform X1

    Conserved Domains (1) summary
    TIGR00863
    Location:11330
    P2X; cation transporter protein
  4. XM_017029066.1XP_016884555.1  P2X purinoceptor 6 isoform X5

  5. XM_011530500.2XP_011528802.1  P2X purinoceptor 6 isoform X3

    Conserved Domains (1) summary
    cl02993
    Location:11304
    P2X_receptor; ATP P2X receptor
  6. XM_011530502.2XP_011528804.1  P2X purinoceptor 6 isoform X10

    Conserved Domains (1) summary
    cl02993
    Location:11260
    P2X_receptor; ATP P2X receptor
  7. XM_017029068.1XP_016884557.1  P2X purinoceptor 6 isoform X7

  8. XM_005261819.3XP_005261876.1  P2X purinoceptor 6 isoform X4

    Conserved Domains (1) summary
    cl02993
    Location:11260
    P2X_receptor; ATP P2X receptor
  9. XM_017029067.1XP_016884556.1  P2X purinoceptor 6 isoform X6

  10. XM_017029069.1XP_016884558.1  P2X purinoceptor 6 isoform X8

  11. XM_017029070.1XP_016884559.1  P2X purinoceptor 6 isoform X9

    Conserved Domains (1) summary
    cl02993
    Location:4179
    P2X_receptor; ATP P2X receptor
  12. XM_011530501.2XP_011528803.1  P2X purinoceptor 6 isoform X9

    Conserved Domains (1) summary
    cl02993
    Location:4179
    P2X_receptor; ATP P2X receptor
  13. XM_017029072.1XP_016884561.1  P2X purinoceptor 6 isoform X11

    Conserved Domains (1) summary
    cl02993
    Location:4223
    P2X_receptor; ATP P2X receptor
  14. XM_017029074.1XP_016884563.1  P2X purinoceptor 6 isoform X11

    Conserved Domains (1) summary
    cl02993
    Location:4223
    P2X_receptor; ATP P2X receptor

RNA

  1. XR_937950.2 RNA Sequence

  2. XR_937953.3 RNA Sequence

  3. XR_937952.2 RNA Sequence

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