P2RX6 - purinergic receptor P2X 6 Gene
Also Known as P2X6; P2XM; P2RXL1
Species: Homo sapiens
About P2RX6
This gene has 9 transcripts (splice variants), 118 orthologues and 6 paralogues. Broad expression in spleen (RPKM 2.6), brain (RPKM 2.0) and 17 other tissues.
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]
P2RX6 Products (12)
| mRNA | Protein | Name |
|---|---|---|
| NM_001159554.2 | NP_001153026.1 | P2X purinoceptor 6 isoform 2 |
| NM_001349874.2 | NP_001336803.1 | P2X purinoceptor 6 isoform 3 |
| NM_001349875.2 | NP_001336804.1 | P2X purinoceptor 6 isoform 3 |
| NM_001349876.2 | NP_001336805.1 | P2X purinoceptor 6 isoform 4 |
| NM_001394691.1 | NP_001381620.1 | P2X purinoceptor 6 isoform 5 |
| NM_001394692.1 | NP_001381621.1 | P2X purinoceptor 6 isoform 6 |
| NM_001394693.1 | NP_001381622.1 | P2X purinoceptor 6 isoform 7 |
| NM_001394694.1 | NP_001381623.1 | P2X purinoceptor 6 isoform 8 |
| NM_001394695.1 | NP_001381624.1 | P2X purinoceptor 6 isoform 9 |
| NM_001394696.1 | NP_001381625.1 | P2X purinoceptor 6 isoform 3 |
| NM_001394697.1 | NP_001381626.1 | P2X purinoceptor 6 isoform 3 |
| NM_005446.5 | NP_005437.2 | P2X purinoceptor 6 isoform 1 |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cell junction |
IDA
IDA: Inferred from direct assay
|
12088286 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
12088286 | GOA |
| part of receptor complex |
IDA
IDA: Inferred from direct assay
|
15313628 | GOA |
P2RX6 Protein Structure
P2X_receptor: ATP P2X receptor (23 - 387)
- 0
- 100
- 200
- 300
- 400
- 441 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
P2X purinoceptor 6 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Chromosome 22q11.2 Deletion Syndrome, Distal |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | P2RX6 | VGNC | VGNC:75736 |
| Rattus norvegicus | P2RX6 | RGD | RGD:3243 |
| Bos taurus | P2RX6 | VGNC | VGNC:32521 |
| Mus musculus | P2RX6 | MGD | MGI:1337113 |
| Canis familiaris | P2RX6 | VGNC | VGNC:44211 |
| Others | P2RX6 | NCBI |