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  2. P2RX2 - purinergic receptor P2X 2 Gene

P2RX2 - purinergic receptor P2X 2 Gene

中文名称:嘌呤能受体 P2X 2

种属: Homo sapiens

同用名: P2X2; DFNA41

基因 ID: 22953 | 基因类型: protein coding

关于 P2RX2

Cytogenetic location: 12q24.33 Genomic coordinates (GRCh38): 12:132,618,776-132,622,388 (from NCBI)

This gene has 8 transcripts (splice variants), 190 orthologues, 6 paralogues and is associated with 2 phenotypes.

功能概要

该基因的产物属于 ATP 嘌呤受体家族。该受体起配体门控离子通道的作用。与 ATP 的结合介导神经元之间以及从神经元到平滑肌的突触传递。已针对该基因鉴定出编码不同同种型的多个转录变体。[由 RefSeq 提供,2013 年 8 月]

The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2013]

P2RX2 基因产物(14)

mRNA Protein Name
NM_012226.5 NP_036358.2 P2X purinoceptor 2 isoform I
NM_174873.3 NP_777362.1 P2X purinoceptor 2 isoform B
NM_170682.4 NP_733782.1 P2X purinoceptor 2 isoform A
XM_005266156.6 XP_005266213.1 P2X purinoceptor 2 isoform X5
NM_174872.3 NP_777361.1 P2X purinoceptor 2 isoform H
XM_005266154.5 XP_005266211.1 P2X purinoceptor 2 isoform X1
XM_017019035.3 XP_016874524.1 P2X purinoceptor 2 isoform X4
NM_170683.4 NP_733783.1 P2X purinoceptor 2 isoform D
NM_001282164.2 NP_001269093.1 P2X purinoceptor 2 isoform J
NM_001282165.2 NP_001269094.1 P2X purinoceptor 2 isoform K
XM_005266155.6 XP_005266212.1 P2X purinoceptor 2 isoform X2
NM_016318.4 NP_057402.1 P2X purinoceptor 2 isoform C
XM_011534786.4 XP_011533088.1 P2X purinoceptor 2 isoform X3
NM_001282164.2 NP_001269093.1 P2X purinoceptor 2 isoform J
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables extracellularly ATP-gated monoatomic cation channel activity IDA
IDA: 通过直接分析推断
23345450 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
15313628 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in sensory perception of sound IMP
IMP: 通过突变表型推断
23345450 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in apical plasma membrane IDA
IDA: 通过直接分析推断
23345450 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
23345450 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

P2RX2 蛋白结构

P2X_receptor

P2X_receptor: ATP P2X receptor (27 - 385)

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

P2X purinoceptor 2

ATP receptor

P2X Receptor, subunit 2

purinergic receptor P2X, ligand gated ion channel, 2

关联疾病

疾病名称 别名
Paine Syndrome

Pain Disorder

Pain

Microcephaly With Spastic Diplegia

Pain Syndrome

Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna

Autosomal Dominant Isolated Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna

Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna

Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna

Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna

Low Compliance Bladder

Overactive Bladder

Hyperactivity Of Bladder

Hypertonic Bladder

Hypertonicity Of Bladder

Low Bladder Compliance

Oab - [Overactive Bladder]

Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness

Interstitial Cystitis

Bladder Pain Syndrome

Painful Bladder Syndrome

Ulcerative Cystitis

Ic/Bps

Ic/Pbs

Interstitial Cystitis/Bladder Pain Syndrome

Interstitial Cystitis/Painful Bladder Syndrome

Cystitis, Interstitial

Chronic Interstitial Cystitis

Pelvic Congestion Syndrome

Trigonitis

Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Sensorineural Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

Deafness, Autosomal Dominant 41

DFNA41

Autosomal Dominant Nonsyndromic Deafness 41

Autosomal Dominant Deafness 41

Deafness, Autosomal Dominant, 41

Deafness, Autosomal Dominant, Type 41

Neurogenic Bladder

Neurogenic Dysfunction Of The Urinary Bladder

Neurogenic Urinary Bladder Disorder

Neuropathic Bladder

Bladder Neurogenic

Urinary Bladder, Neurogenic

Neurogenic Urinary Bladder

Migraine With Or Without Aura 1

Migraine

Migraine With Or Without Aura, Susceptibility To, 1

Migraine Disorder

Migraine Variant

Migraines

Migraine Disorders

Mgr1

Mgau

Ma

Migraine With Or Without Aura

Classic Migraine

Common Migraine

Disorder, Migraine

Headache Migraine

Headache Migrainous

Migraine Headache

Migraine Syndrome

Headache Including Migraine

Migraine, Susceptibility To

Detrusor Sphincter Dyssynergia

Detrusor And Sphincter Dyssynergia

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus P2RX2 MGD MGI:2665170
Rattus norvegicus P2RX2 RGD RGD:620251
Macaca mulatta P2RX2 VGNC VGNC:75609
Bos taurus P2RX2 VGNC VGNC:32518
Felis catus P2RX2 VGNC VGNC:64009
Canis familiaris P2RX2 VGNC VGNC:44208