2. Gene
  3. KCNC2 - potassium voltage-gated channel subfamily C member 2 Gene

KCNC2 - potassium voltage-gated channel subfamily C member 2 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 C 成员 2

种属: Homo sapiens

同用名: KV3.2; DEE103

基因 ID: 3747 | 基因类型: protein coding

关于 KCNC2

Cytogenetic location: 12q21.1 Genomic coordinates (GRCh38): 12:75,040,078-75,209,839 (from NCBI)

This gene has 10 transcripts (splice variants), 216 orthologues and 31 paralogues. Restricted expression toward brain (RPKM 14.9).

功能概要

果蝇的 Shaker 基因家族编码电压门控钾通道的成分，由四个亚家族组成。基于序列相似性，该基因与这些亚家族之一相似，即 Shaw 亚家族。该基因编码的蛋白质属于通道蛋白的延迟整流类，是一种整合膜蛋白，介导可兴奋膜的电压依赖性钾离子渗透性。已发现该基因编码不同亚型的几种转录变体。[RefSeq 提供，2012 年 5 月]

The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

KCNC2 基因产物(17)

mRNA Protein Name
NM_001260497.2 NP_001247426.1 potassium voltage-gated channel subfamily C member 2 isoform 4
NM_001260498.2 NP_001247427.1 potassium voltage-gated channel subfamily C member 2 isoform KV3.2d
NM_001260499.2 NP_001247428.1 potassium voltage-gated channel subfamily C member 2 isoform 6
NM_001414192.1 NP_001401121.1 potassium voltage-gated channel subfamily C member 2 isoform KV3.2b
NM_001414193.1 NP_001401122.1 potassium voltage-gated channel subfamily C member 2 isoform 7
NM_001414194.1 NP_001401123.1 potassium voltage-gated channel subfamily C member 2 isoform 8
NM_001414195.1 NP_001401124.1 potassium voltage-gated channel subfamily C member 2 isoform KV3.2a
NM_001414196.1 NP_001401125.1 potassium voltage-gated channel subfamily C member 2 isoform KV3.2a
NM_001414197.1 NP_001401126.1 potassium voltage-gated channel subfamily C member 2 isoform 9
NM_001414198.1 NP_001401127.1 potassium voltage-gated channel subfamily C member 2 isoform 10
NM_001414199.1 NP_001401128.1 potassium voltage-gated channel subfamily C member 2 isoform 11
NM_001414202.1 NP_001401131.1 potassium voltage-gated channel subfamily C member 2 isoform 9
NM_001414206.1 NP_001401135.1 potassium voltage-gated channel subfamily C member 2 isoform 9
NM_001414213.1 NP_001401142.1 potassium voltage-gated channel subfamily C member 2 isoform 9
NM_139136.4 NP_631874.1 potassium voltage-gated channel subfamily C member 2 isoform KV3.2a
NM_139137.4 NP_631875.1 potassium voltage-gated channel subfamily C member 2 isoform KV3.2b
NM_153748.3 NP_715624.1 potassium voltage-gated channel subfamily C member 2 isoform KV3.2c
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 voltage-gated potassium channel activity IDA
IDA: 通过直接分析推断
15709110 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
15709110 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

KCNC2 蛋白结构

BTB_2

BTB_2: BTB/POZ domain (10 - 151)

Ion_trans

Ion_trans: Ion transport protein (284 - 472)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 600
  • 638 a.a.
蛋白主名 其他名称

potassium voltage-gated channel subfamily C member 2

potassium channel, voltage gated Shaw related subfamily C, member 2

关联疾病

疾病名称 别名
Developmental And Epileptic Encephalopathy 103

DEE103
Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic
Extratemporal Epilepsy
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
Retinitis Pigmentosa 23

RP23

Retinitis Pigmentosa-23

Retinitis Pigmentosa, Type 23

Rp23 Gene
Spinocerebellar Ataxia 13

Spinocerebellar Ataxia Type 13

SCA13

Autosomal Dominant Cerebellar Ataxia With Intellectual Disability

Cerebellar Ataxia, Autosomal Dominant With Intellectual Disability

Spinocerebellar Ataxia-13

Ataxia, Spinocerebellar, Type 13
Immunodeficiency 18

IMD18

Cd3-Epsilon Deficiency

Immunodeficiency 18, Scid Variant

Cd3epsilon Deficiency

Immunodeficiency 18, Severe Combined Immunodeficiency Variant

Immunodeficiency, Type 18
Developmental And Epileptic Encephalopathy 13

Epileptic Encephalopathy, Early Infantile, 13

DEE13

Eiee13

Developmental And Epileptic Encephalopathy, 13

Early Infantile Epileptic Encephalopathy 13

Scn8a Encephalopathy

Early Infantile Epileptic Encephalopathy-13

Scn8a Epilepsy

Encephalopathy, Developmental And Epileptic, Type 13
Early Onset Absence Epilepsy
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-RS07109 KCNC2 Human 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 KCNC2 RGD RGD:628829
Felis catus KCNC2 VGNC VGNC:84044
Macaca mulatta KCNC2 VGNC VGNC:73972
Canis familiaris KCNC2 VGNC VGNC:42237
Mus musculus KCNC2 MGD MGI:96668
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