1. Gene
  2. ASIC4 - acid sensing ion channel subunit family member 4 Gene

ASIC4 - acid sensing ion channel subunit family member 4 Gene

中文名称:酸感应离子通道亚基家族成员 4

种属: Homo sapiens

同用名: ACCN4; BNAC4

基因 ID: 55515 | 基因类型: protein coding

关于 ASIC4

Cytogenetic location: 2q35 Genomic coordinates (GRCh38): 2:219,507,093-219,538,772 (from NCBI)

This gene has 6 transcripts (splice variants), 237 orthologues and 8 paralogues. Biased expression in brain (RPKM 5.1), adrenal (RPKM 0.8) and 1 other tissue.

功能概要

该基因属于酸敏感离子通道超家族,它是质子门控的、阿米洛利敏感的钠通道。这些通道与突触传递、痛觉以及机械知觉有关。该基因主要在脑垂体中表达,被认为是阵发性肌张力障碍性舞蹈手足徐动症 (PDC) 的候选基因,这是一种运动障碍,但未发现该基因突变与 PDC 之间存在相关性。[RefSeq 提供,2012 年 2 月]

This gene belongs to the superfamily of acid-sensing ion channels, which are proton-gated, amiloride-sensitive sodium channels. These channels have been implicated in synaptic transmission, pain perception as well as mechanoperception. This gene is predominantly expressed in the pituitary gland, and was considered a candidate for paroxysmal dystonic choreoathetosis (PDC), a movement disorder, however, no correlation was found between mutations in this gene and PDC. [provided by RefSeq, Feb 2012]

ASIC4 基因产物(2)

mRNA Protein Name
NM_018674.6 NP_061144.4 acid-sensing ion channel 4 isoform 1
NM_182847.3 NP_878267.3 acid-sensing ion channel 4 isoform 2
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 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

ASIC4 蛋白结构

ASC

ASC: Amiloride-sensitive sodium channel (172 - 573)

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  • 647 a.a.
蛋白主名 其他名称

acid-sensing ion channel 4

acid sensing ion channel family member 4

关联疾病

疾病名称 别名
Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

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