P2RX6 Gene Summary [Human]

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]

Details

Type
Processed Transcript
Official Symbol
P2RX6
Official Name
purinergic receptor P2X 6 [Source:HGNC Symbol;Acc:HGNC:8538]
Ensembl ID
ENSG00000099957
Bio databases IDs NCBI: 9127 Ensembl: ENSG00000099957
Aliases purinergic receptor P2X 6
Synonyms P2RXL1, P2X6, P2XM, purinergic receptor P2X 6, purinergic receptor P2X, ligand-gated ion channel, 6, Rnap2x6
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human P2RX6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • binding protein
  • ATP P2X receptor
  • channel/pore class transporter
  • ATP-gated cation channel
  • protein binding
  • ion channel
  • transmembrane receptor

Pathways

Biological processes and signaling networks where the P2RX6 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • cancer
  • neoplasia
  • sarcoma
  • soft tissue neoplasm
regulated by
  • TGFB1
  • F2
  • EPRS1
  • adenosine triphosphate
  • suramin
  • cibacron blue F 3GA
  • alpha,beta-methyleneadenosine 5'-triphosphate
  • SRPK1
  • blood platelets

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • glutaminergic synapse
  • cell junction
  • Cytoplasm
  • cellular membrane
  • Nucleus
  • endoplasmic reticulum membrane
  • synaptic membrane
  • dendritic spines
  • perikaryon
  • dendrites
  • postsynaptic density
  • excitatory synapses

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human P2RX6 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • regulation of excitatory postsynaptic membrane potential
  • purinergic nucleotide receptor signaling pathway
  • signal transduction
  • response to ATP
  • muscle contraction
  • calcium ion transmembrane transport

Cellular Component

Where in the cell the gene product is active
  • cytoplasm
  • dendritic spine
  • cell junction
  • receptor complex
  • neuronal cell body
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • extracellular ATP-gated cation channel activity
  • ATP binding
  • channel activity
  • transmembrane signaling receptor activity
  • purinergic nucleotide receptor activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.