2. Gene
  3. P2RX6 - purinergic receptor P2X 6 Gene

P2RX6 - purinergic receptor P2X 6 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：嘌呤能受体 P2X 6

种属: Homo sapiens

同用名: P2X6; P2XM; P2RXL1

基因 ID: 9127 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质属于 P2X 受体家族，是 ATP 门控离子通道，介导对阳离子的快速选择性渗透。该基因主要在骨骼肌中表达，并受 p53 调控。编码的蛋白质与人脐静脉内皮细胞粘附连接处的 VE-钙粘蛋白相关。可变剪接导致多个转录本变体。已经确定了一个相关的假基因，它也位于 22 号染色体上。[RefSeq 提供，2009 年 4 月]

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 基因产物(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
基因本体论
  • 细胞组分
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell junction IDA
IDA: 通过直接分析推断
12088286 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
12088286 GOA
part of receptor complex IDA
IDA: 通过直接分析推断
15313628 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

P2RX6 蛋白结构

P2X_receptor

P2X_receptor: ATP P2X receptor (23 - 387)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 441 a.a.
蛋白主名 其他名称

P2X purinoceptor 6

ATP receptor

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS09910 P2RX6 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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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