P2RX6 - purinergic receptor P2X 6 Gene

Also Known as P2X6; P2XM; P2RXL1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9127

About P2RX6

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:21,009,799-21,028,008 (from NCBI)

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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

P2RX6 Protein Structure

P2X_receptor

P2X_receptor: ATP P2X receptor (23 - 387)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 441 a.a.
Protein Preferred Names Protein Names

P2X purinoceptor 6

  • ATP receptor

Related Diseases

Diseases Alias
Chromosome 22q11.2 Deletion Syndrome, Distal
  • 22q11.2 Deletion Syndrome

  • Autosomal Dominant Opitz G/Bbb Syndrome

  • Catch22

  • Cayler Cardiofacial Syndrome

  • Conotruncal Anomaly Face Syndrome

  • Digeorge Syndrome

  • Sedlackova Syndrome

  • Shprintzen Syndrome

  • Velocardiofacial Syndrome

  • 22q11.2 Distal Deletion Syndrome

  • Distal 22q11.2 Microdeletion Syndrome

  • 22q11.2ds

  • Vcfs

  • Velo-Cardio-Facial Syndrome

  • Distal Chromosome 22q11.2 Deletion Syndrome

  • Chromosome 22q11.2 Deletion Syndrome Distal

  • Chromosome 22q11.2 Deletion Syndrome

  • Deletion 22q11.2 Syndrome

  • 22q11ds

  • Catch 22

  • Digeorge Sequence

  • Microdeletion 22q11.2

  • Monosomy 22q11

  • Takao Syndrome

  • Distal Del(22)(Q11.2)

  • Distal Monosomy 22q11.2

  • Catch 22 Syndrome

  • Chromosome Deletion Syndrome 22q11.2, Distal

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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