P2RX6
P2X purinoceptor 6
Also known as: MGC129625, P2RX6_HUMAN, P2RXL1, P2X6, P2XM
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O15547
- Gene
- P2RX6
- Ensembl
- ENSG00000099957
- Chromosome
- 22
- Canonical length
- 441 aa
- Protein class
- Predicted membrane proteins
- Subcellular location
- Nucleoli,Cytosol
- Quaternary structure
- Homotrimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
441 residues, UniProt reviewed canonical sequence.
>O15547|P2RX6
1 MCPQLAGAGS MGSPGATTGW GLLDYKTEKY VMTRNWRVGA LQRLLQFGIV VYVVGWALLA
61 KKGYQERDLE PQFSIITKLK GVSVTQIKEL GNRLWDVADF VKPPQGENVF FLVTNFLVTP
121 AQVQGRCPEH PSVPLANCWV DEDCPEGEGG THSHGVKTGQ CVVFNGTHRT CEIWSWCPVE
181 SGVVPSRPLL AQAQNFTLFI KNTVTFSKFN FSKSNALETW DPTYFKHCRY EPQFSPYCPV
241 FRIGDLVAKA GGTFEDLALL GGSVGIRVHW DCDLDTGDSG CWPHYSFQLQ EKSYNFRTAT
301 HWWEQPGVEA RTLLKLYGIR FDILVTGQAG KFGLIPTAVT LGTGAAWLGV VTFFCDLLLL
361 YVDREAHFYW RTKYEEAKAP KATANSVWRE LALASQARLA ECLRRSSAPA PTATAAGSQT
421 QTPGWPCPSS DTHLPTHSGS LLocalizationUniProt · AlphaFold · HPA
Whether an antibody against P2RX6 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 2
- Mean surface accessibility (rSASA)
- 0.39
- Highest tissue expression
- 32 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 32 nTPM
- tongue: 11 nTPM
- cerebral cortex: 6.5 nTPM
- spleen: 6.3 nTPM
- pituitary gland: 5.7 nTPM
- choroid plexus: 4.1 nTPM
Single-cell type
- myonuclei: 55 nCPM
- myosatellite cells: 31 nCPM
- retinal ganglion cells: 27 nCPM
- corticotrophs: 16 nCPM
- choroid plexus epithelial cells: 16 nCPM
- sertoli cells: 15 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- pons: 15 nTPM
- cerebral cortex: 13 nTPM
- medulla oblongata: 11 nTPM
- hypothalamus: 10 nTPM
- cerebellum: 8.1 nTPM
- white matter: 7.7 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.1
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.84
- DepMap mean gene effect
- 0.07
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- ATP binding
- channel activity
- extracellularly ATP-gated monoatomic cation channel activity
- protein-containing complex binding
- purinergic nucleotide receptor activity
- transmembrane signaling receptor activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of P2RX6 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads P2RX6 as an antibody target. Whether an autoantibody or antibody against P2RX6 could matter depends on whether native P2RX6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
P2RX6 is annotated at the cell surface, where native P2RX6 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label P2RX6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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