P2RX6 - purinergic receptor P2X 6 Gene

Homo sapiens

Also known as P2X6; P2XM; P2RXL1

Gene ID: 9127 | Gene type: protein coding

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

P2RX6 Protein Structure

P2X_receptor

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09910	P2RX6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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