2. Gene
  3. KCNH5 - potassium voltage-gated channel subfamily H member 5 Gene

KCNH5 - potassium voltage-gated channel subfamily H member 5 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 5

种属: Homo sapiens

同用名: EAG2; hEAG2; H-EAG2; Kv10.2

基因 ID: 27133 | 基因类型: protein coding

关于 KCNH5

Cytogenetic location: 14q23.2 Genomic coordinates (GRCh38): 14:62,699,464-63,045,458 (from NCBI)

This gene has 4 transcripts (splice variants), 275 orthologues, 17 paralogues and is associated with 1 phenotype. Biased expression in brain (RPKM 1.4), adrenal (RPKM 0.6) and 2 other tissues.

功能概要

该基因编码电压门控钾通道的成员。该家族的成员具有多种功能，包括调节神经递质和激素释放、心脏功能和细胞体积。这种蛋白质是一种外向整流的非失活通道。可变剪接导致多个转录本变体。[RefSeq 提供，2013 年 7 月]

This gene encodes a member of voltage-gated potassium channels. Members of this family have diverse functions, including regulating neurotransmitter and hormone release, cardiac function, and cell volume. This protein is an outward-rectifying, noninactivating channel. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

KCNH5 基因产物(2)

mRNA Protein Name
NM_139318.5 NP_647479.2 potassium voltage-gated channel subfamily H member 5 isoform 1
NM_172375.3 NP_758963.1 potassium voltage-gated channel subfamily H member 5 isoform 3
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 delayed rectifier potassium channel activity IDA
IDA: 通过直接分析推断
11943152 GOA
enables voltage-gated potassium channel activity IMP
IMP: 通过突变表型推断
24133262 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
11943152 GOA
acts upstream of or within regulation of G2/M transition of mitotic cell cycle IDA
IDA: 通过直接分析推断
22855790 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell surface IDA
IDA: 通过直接分析推断
22855790 GOA
part of voltage-gated potassium channel complex IDA
IDA: 通过直接分析推断
11943152 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

KCNH5 蛋白结构

PAS_9

PAS_9: PAS domain (37 - 132)

Ion_trans

Ion_trans: Ion transport protein (250 - 467)

cNMP_binding

cNMP_binding: Cyclic nucleotide-binding domain (569 - 651)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 988 a.a.
蛋白主名 其他名称

potassium voltage-gated channel subfamily H member 5

ether-a-go-go 2

关联疾病

疾病名称 别名
Ohtahara Syndrome
Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic
Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile
Episodic Pain Syndrome, Familial, 2

FEPS2

Familial Episodic Pain Syndrome 2
Bronchus Cancer

Malignant Neoplasm Of Bronchus And Lung

Bronchus Carcinoma

Bronchogenic Carcinoma

Malignant Neoplasm Of Bronchus Or Lung

Bc - Bronchogenic Carcinoma

Carcinoma, Bronchogenic

Bronchial Neoplasms
Medulloblastoma

MDB

Cpnet

Localized Primitive Neuroectodermal Tumor

Classic Medulloblastoma

Medulloblastoma Predisposition Syndrome

Medulloblastoma, Somatic

Brain Medulloblastoma

Cns Pnet

Infratentorial Primitive Neuroectodermal Tumor

Neuroectodermal Tumors, Primitive

Medulloblastomas

Desmoplastic Medulloblastoma

Medulloblastoma, With Extensive Nodularity

Medulloblastoma Of Unspecified Site

Medullomyoblastoma Of Unspecified Site
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-RS07128 KCNH5 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus KCNH5 VGNC VGNC:30447
Canis familiaris KCNH5 VGNC VGNC:42250
Felis catus KCNH5 VGNC VGNC:67910
Mus musculus KCNH5 MGD MGI:3584508
Macaca mulatta KCNH5 VGNC VGNC:73983
Rattus norvegicus KCNH5 RGD RGD:621417
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