2. Gene
  3. KCNH7 - potassium voltage-gated channel subfamily H member 7 Gene

KCNH7 - potassium voltage-gated channel subfamily H member 7 Gene

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

中文名称：钾电压门控通道亚家族 H 成员 7

种属: Homo sapiens

同用名: ERG3; HERG3; Kv11.3

基因 ID: 90134 | 基因类型: protein coding

关于 KCNH7

Cytogenetic location: 2q24.2 Genomic coordinates (GRCh38): 2:162,371,407-162,838,767 (from NCBI)

This gene has 4 transcripts (splice variants), 290 orthologues and 17 paralogues. Biased expression in brain (RPKM 1.6), testis (RPKM 0.5) and 3 other tissues.

功能概要

从功能和结构的角度来看，电压门控钾 (Kv) 通道代表了最复杂的一类电压门控离子通道。它们的不同功能包括调节神经递质释放、心率、胰岛素分泌、神经元兴奋性、上皮电解质转运、平滑肌收缩和细胞体积。该基因编码钾通道电压门控 H 亚科的一个成员。该成员是一个成孔 (alpha) 亚基。至少有两个可变剪接的转录本变体源自该基因并编码不同的亚型。[RefSeq 提供，2008 年 7 月]

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, Insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the Potassium Channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. There are at least two alternatively spliced transcript variants derived from this gene and encoding distinct isoforms. [provided by RefSeq, Jul 2008]

KCNH7 基因产物(2)

mRNA Protein Name
NM_033272.4 NP_150375.2 potassium voltage-gated channel subfamily H member 7 isoform 1
NM_173162.3 NP_775185.1 potassium voltage-gated channel subfamily H member 7 isoform 2
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 heme binding IDA
IDA: 通过直接分析推断
32723862 GOA
enables inward rectifier potassium channel activity IDA
IDA: 通过直接分析推断
32723862 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in potassium ion transport IDA
IDA: 通过直接分析推断
32723862 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

KCNH7 蛋白结构

PAS_9

PAS_9: PAS domain (31 - 134)

Ion_trans

Ion_trans: Ion transport protein (453 - 662)

cNMP_binding

cNMP_binding: Cyclic nucleotide-binding domain (766 - 850)

  • 0
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  • 400
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  • 1000
  • 1196 a.a.
蛋白主名 其他名称

potassium voltage-gated channel subfamily H member 7

ERG-3

关联疾病

疾病名称 别名
Deafness, Autosomal Recessive 1a

DFNB1A

Deafness, Digenic, Gjb2/Gjb3

Autosomal Recessive Nonsyndromic Deafness 1a

Deafness, Digenic, Gjb2/Gjb6

Deafness, Digenic Gjb2/Gjb6

Autosomal Recessive Deafness 1a

Deafness, Autosomal Recessive, 1a

Deafness Digenic Gjb2/Gjb3

Deafness Digenic Gjb2/Gjb6

Deafness Neurosensory Autosomal Recessive 1

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1

Nsrd1

Deafness, Autosomal Recessive, Type 1a
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
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS07130 KCNH7 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS21610 Kcnh7 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS28128 Kcnh7 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus KCNH7 RGD RGD:621112
Bos taurus KCNH7 VGNC VGNC:30449
Macaca mulatta KCNH7 VGNC VGNC:73854
Canis familiaris KCNH7 VGNC VGNC:42252
Mus musculus KCNH7 MGD MGI:2159566
Felis catus KCNH7 VGNC VGNC:63038
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