2. Gene
  3. KCNC4 - potassium voltage-gated channel subfamily C member 4 Gene

KCNC4 - potassium voltage-gated channel subfamily C member 4 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 4

种属: Homo sapiens

同用名: KV3.4; C1orf30; KSHIIIC; HKSHIIIC

基因 ID: 3749 | 基因类型: protein coding

关于 KCNC4

Cytogenetic location: 1p13.3 Genomic coordinates (GRCh38): 1:110,210,314-110,284,080 (from NCBI)

This gene has 8 transcripts (splice variants), 208 orthologues and 31 paralogues. Ubiquitous expression in brain (RPKM 4.0), kidney (RPKM 3.0) and 24 other tissues.

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 Shaw 亚家族相似。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。它产生可能对神经元兴奋性很重要的非典型电压依赖性瞬态电流。已发现该基因的多个转录变体。[RefSeq 提供，2010 年 7 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 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. It generates atypical voltage-dependent transient current that may be important for neuronal excitability. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]

KCNC4 基因产物(4)

mRNA Protein Name
NM_001039574.3 NP_001034663.1 potassium voltage-gated channel subfamily C member 4 isoform c
NM_001377330.1 NP_001364259.1 potassium voltage-gated channel subfamily C member 4 isoform d
NM_001377331.1 NP_001364260.1 potassium voltage-gated channel subfamily C member 4 isoform e
NM_004978.6 NP_004969.2 potassium voltage-gated channel subfamily C member 4 isoform a
基因本体论
  • 分子功能
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
29507146 GOA
enables voltage-gated potassium channel activity IDA
IDA: 通过直接分析推断
7993631 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

KCNC4 蛋白结构

Potassium_chann

Potassium_chann: Potassium voltage-gated channel (1 - 30)

BTB_2

BTB_2: BTB/POZ domain (38 - 143)

Ion_trans

Ion_trans: Ion transport protein (284 - 471)

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

potassium voltage-gated channel subfamily C member 4

K+ channel subunit

关联疾病

疾病名称 别名
Congenital Disorder Of Glycosylation, Type Iic

CDG2C

Congenital Disorder Of Glycosylation Type Iic

Leukocyte Adhesion Deficiency Type Ii

Cdg Iic

Cdgiic

Rambam-Hasharon Syndrome

Leukocyte Adhesion Deficiency, Type Ii

Lad2

Leukocyte Adhesion Deficiency 2

Cdg-Iic

Congenital Disorder Of Glycosylation, Type 2c

Rhs

Cdg Syndrome Type Iic

Lad-Ii

Rambam Hasharon Syndrome

Congenital Disorder Of Glycosylation 2c

Glycosylation, Congenital Disorder Of, Type Iic
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
Progressive Myoclonus Epilepsy 7

Epm7

Meak

Myoclonus Epilepsy And Ataxia Due To Potassium Channel Mutation

Pme Type 7

Progressive Myoclonic Epilepsy Due To Kv3.1 Deficiency

Progressive Myoclonus Epilepsy Type 7
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-RS07111 KCNC4 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris KCNC4 VGNC VGNC:42238
Macaca mulatta KCNC4 VGNC VGNC:73974
Mus musculus KCNC4 MGD MGI:96670
Bos taurus KCNC4 VGNC VGNC:30433
Rattus norvegicus KCNC4 RGD RGD:1589169
Felis catus KCNC4 VGNC VGNC:67900
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