1. Gene
  2. KCNS3 - potassium voltage-gated channel modifier subfamily S member 3 Gene

KCNS3 - potassium voltage-gated channel modifier subfamily S member 3 Gene

中文名称:钾电压门控通道调节因子亚家族 S 成员 3

种属: Homo sapiens

同用名: KV9.3

基因 ID: 3790 | 基因类型: protein coding

关于 KCNS3

Cytogenetic location: 2p24.2 Genomic coordinates (GRCh38): 2:17,877,847-17,932,958 (from NCBI)

This gene has 5 transcripts (splice variants), 255 orthologues and 31 paralogues. Broad expression in lung (RPKM 12.4), placenta (RPKM 5.3) and 18 other tissues.

功能概要

电压门控钾通道形成最大和最多样化的离子通道类别,存在于可兴奋和不可兴奋的细胞中。它们的主要功能与静息膜电位的调节和动作电位的形状和频率的控制有关。 α 亚基有 2 种类型:一种是自身具有功能,另一种是电沉默但能够调节特定功能性 α 亚基的活性。由该基因编码的蛋白质本身没有功能,但可以与钾电压门控通道蛋白的 Shab 相关亚家族的成员 1 和成员 2 (可能还有其他成员) 形成异源多聚体。该基因属于钾通道家族的 S 亚家族。已发现该基因编码相同蛋白质的可变剪接转录物变体。[RefSeq 提供,2013 年 9 月]

Voltage-gated potassium channels form the largest and most diversified class of ion channels and are present in both excitable and nonexcitable cells. Their main functions are associated with the regulation of the resting membrane potential and the control of the shape and frequency of action potentials. The alpha subunits are of 2 types: those that are functional by themselves and those that are electrically silent but capable of modulating the activity of specific functional alpha subunits. The protein encoded by this gene is not functional by itself but can form heteromultimers with member 1 and with member 2 (and possibly Other members) of the Shab-related subfamily of potassium voltage-gated channel proteins. This gene belongs to the S subfamily of the Potassium Channel family. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013]

KCNS3 基因产物(2)

mRNA Protein Name
NM_001282428.2 NP_001269357.1 potassium voltage-gated channel subfamily S member 3
NM_002252.5 NP_002243.3 potassium voltage-gated channel subfamily S member 3

KCNS3 蛋白结构

BTB_2

BTB_2: BTB/POZ domain (17 - 116)

Ion_trans

Ion_trans: Ion transport protein (225 - 405)

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  • 400
  • 491 a.a.
蛋白主名 其他名称

potassium voltage-gated channel subfamily S member 3

Shab-related delayed-rectifier K+ channel alpha subunit 3

关联疾病

疾病名称 别名
Developmental And Epileptic Encephalopathy 52

DEE52

Epileptic Encephalopathy, Early Infantile, 52

Eiee52

Developmental And Epileptic Encephalopathy, 52

Early Infantile Epileptic Encephalopathy 52

Gallbladder Benign Neoplasm
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
Bos taurus KCNS3 VGNC VGNC:30493
Felis catus KCNS3 VGNC VGNC:80501
Macaca mulatta KCNS3 VGNC VGNC:74010
Rattus norvegicus KCNS3 RGD RGD:621527
Mus musculus KCNS3 MGD MGI:1098804
Canis familiaris KCNS3 VGNC VGNC:103687