2. Gene
  3. ASIC2 - acid sensing ion channel subunit 2 Gene

ASIC2 - acid sensing ion channel subunit 2 Gene

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

中文名称：酸感应离子通道亚基 2

种属: Homo sapiens

同用名: ACCN; BNC1; MDEG; ACCN1; BNaC1; ASIC2a; hBNaC1

基因 ID: 40 | 基因类型: protein coding

关于 ASIC2

Cytogenetic location: 17q11.2-q12 Genomic coordinates (GRCh38): 17:33,013,087-34,156,768 (from NCBI)

This gene has 5 transcripts (splice variants), 233 orthologues and 8 paralogues. Biased expression in brain (RPKM 2.7), endometrium (RPKM 2.6) and 5 other tissues.

功能概要

该基因编码退化蛋白/上皮钠通道 (DEG/ENaC) 超家族的成员。该家族的成员是阿米洛利敏感性钠通道，包含细胞内 N 和 C 末端、2 个疏水跨膜区和一个大的细胞外环，其中有许多具有保守间距的半胱氨酸残基。由该基因编码的成员可能在神经传递中发挥作用。此外，已观察到该成员与酸敏感 (质子门控) 离子通道 3 之间的异聚结合共同组装成对钆敏感的质子门控通道。已在该位点观察到选择性剪接，并已鉴定出编码不同亚型的两种变体。[RefSeq 提供，2012 年 2 月]

This gene encodes a member of the degenerin/epithelial Sodium Channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 3 has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Feb 2012]

ASIC2 基因产物(2)

mRNA Protein Name
NM_001094.5 NP_001085.2 acid-sensing ion channel 2 isoform MDEG1
NM_183377.2 NP_899233.1 acid-sensing ion channel 2 isoform MDEG2
基因本体论
  • 分子功能
  • 生物过程
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
11802773 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in sensory perception of sour taste IMP
IMP: 通过突变表型推断
19812697 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

ASIC2 蛋白结构

ASC

ASC: Amiloride-sensitive sodium channel (20 - 454)

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

acid-sensing ion channel 2

acid sensing (proton gated) ion channel 2

关联疾病

疾病名称 别名
Pseudohypoaldosteronism, Type I, Autosomal Recessive

Autosomal Recessive Pseudohypoaldosteronism Type 1

PHA1B

Pseudohypoaldosteronism Type 1

Pseudohypoaldosteronism, Type I

Generalized Pha1

Generalized Pseudohypoaldosteronism Type 1

Pseudohypoaldosteronism Type 1 Autosomal Recessive

Pha1

Pseudohypoaldosteronism

Pha I, Autosomal Recessive

Autosomal Recessive Pha 1

Pseudohypoaldosteronism Type 1, Recessive

Pseudohypoaldosteronism Type I

Autosomal Recessive Pha1

Pha Type 1

Pseudohypoaldosteronism 1, Autosomal Recessive

Multisystem Pseudohypoaldosteronism

Pha Type I, Autosomal Recessive

Pseudohypoaldosteronism Type I, Autosomal Recessive
Panic Disorder

Panic Anxiety Syndrome

Panic

Panic Disorder 1

Episodic Paroxysmal Anxiety Disorder
Liddle Syndrome 1

Liddle Syndrome

Pseudoaldosteronism

Liddle'S Syndrome

LIDLS1

Lidls

Pseudohyperaldosteronism

Pseudoprimary Hyperaldosteronism

Pseudohyperaldosteronism Type 1

Liddles Syndrome
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive

FPHH

Melanosis Universalis Hereditaria

Muh

Familial Progressive Hyperpigmentation With Or Without Hypopigmentation

Hyperpigmentation, Familial Progressive, 2, Formerly

Fph2, Formerly

Hyperpigmentation With Or Without Hypopigmentation

Familial Progressive Hyper- And Hypopigmentation

Hyperpigmentation, Familial Progressive
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
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 (4)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-P5174 MitTx Activator ≥98.0% 否
HY-P1441A Mambalgin 1 TFA Inhibitor 95.72% 否
HY-P5172 MitTx-alpha Agonist / 否
HY-RS01090 ASIC2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus ASIC2 VGNC VGNC:69264
Canis familiaris ASIC2 VGNC VGNC:38178
Macaca mulatta ASIC2 VGNC VGNC:70241
Mus musculus ASIC2 MGD MGI:1100867
Bos taurus ASIC2 VGNC VGNC:26211
Rattus norvegicus ASIC2 RGD RGD:2017
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