2. Gene
  3. KCNQ5 - potassium voltage-gated channel subfamily Q member 5 Gene

KCNQ5 - potassium voltage-gated channel subfamily Q 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 Q 成员 5

种属: Homo sapiens

同用名: Kv7.5; MRD46

基因 ID: 56479 | 基因类型: protein coding

关于 KCNQ5

Cytogenetic location: 6q13 Genomic coordinates (GRCh38): 6:72,622,064-73,198,853 (from NCBI)

This gene has 14 transcripts (splice variants), 280 orthologues, 31 paralogues and is associated with 4 phenotypes. Biased expression in brain (RPKM 8.7), thyroid (RPKM 2.7) and 6 other tissues.

功能概要

该基因是 KCNQ 钾通道基因家族的成员，在大脑的亚区域和骨骼肌中差异表达。该基因编码的蛋白质产生的电流会随着去极化而缓慢激活，并且可以与 KCNQ3 基因编码的蛋白质形成异聚通道。从该蛋白质表达的电流具有与 M 电流相同的电压依赖性和抑制剂敏感性。它们也被 M1 毒蕈碱性受体激活所抑制。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2009 年 5 月]

This gene is a member of the KCNQ Potassium Channel gene family that is differentially expressed in subregions of the brain and in skeletal muscle. The protein encoded by this gene yields currents that activate slowly with depolarization and can form heteromeric channels with the protein encoded by the KCNQ3 gene. Currents expressed from this protein have voltage dependences and inhibitor sensitivities in common with M-currents. They are also inhibited by M1 muscarinic receptor activation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

KCNQ5 基因产物(5)

mRNA Protein Name
NM_001160130.2 NP_001153602.1 potassium voltage-gated channel subfamily KQT member 5 isoform 2
NM_001160132.2 NP_001153604.1 potassium voltage-gated channel subfamily KQT member 5 isoform 3
NM_001160133.2 NP_001153605.1 potassium voltage-gated channel subfamily KQT member 5 isoform 4
NM_001160134.2 NP_001153606.1 potassium voltage-gated channel subfamily KQT member 5 isoform 5
NM_019842.4 NP_062816.2 potassium voltage-gated channel subfamily KQT member 5 isoform 1
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 protein binding IPI
IPI: 通过物理相互作用推断
24855057 GOA
enables voltage-gated potassium channel activity IDA
IDA: 通过直接分析推断
10787416 GOA
enables voltage-gated potassium channel activity IMP
IMP: 通过突变表型推断
28669405 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in potassium ion transmembrane transport IDA
IDA: 通过直接分析推断
10787416 GOA
involved in potassium ion transmembrane transport IMP
IMP: 通过突变表型推断
28669405 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of clathrin coat IDA
IDA: 通过直接分析推断
24855057 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
10787416 GOA
part of voltage-gated potassium channel complex IDA
IDA: 通过直接分析推断
10787416 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

KCNQ5 蛋白结构

Ion_trans

Ion_trans: Ion transport protein (162 - 345)

KCNQ_channel

KCNQ_channel: KCNQ voltage-gated potassium channel (445 - 647)

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

potassium voltage-gated channel subfamily KQT member 5

KQT-like 5

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, Autosomal Dominant 46

MRD46

Mental Retardation, Autosomal Dominant 46

Autosomal Dominant Mental Retardation 46

Autosomal Dominant Intellectual Developmental Disorder 46

Mental Retardation, Autosomal Dominant, Type 46
Autosomal Dominant Non-Syndromic Intellectual Disability
Benign Neonatal Seizures

Benign Neonatal Epilepsy

Benign Familial Neonatal Seizures

Benign Neonatal Convulsions

Benign Familial Neonatal Convulsions

Benign Familial Neonatal Epilepsy

Bfne

Bfns

Seizures, Benign Neonatal

Neonatal Convulsions Benign

Epilepsy, Benign Neonatal

Epilepsy, Benign Neonatal, 2

Benign Familial Convulsion

Familial Benign Neonatal Epilepsy
Benign Familial Neonatal Epilepsy

Familial Neonatal Seizures

Bfns

Benign Familial Neonatal Convulsions

Benign Familial Neonatal Seizures

Epilepsy Benign Neonatal Familial

Familial Benign Neonatal Convulsions

Benign Neonatal Familial Convulsions

Familial Benign Neonatal Epilepsy

Epilepsy, Benign Neonatal, 2

Benign Familial Convulsion
Myopia

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted
Neonatal Period Electroclinical Syndrome
Long Qt Syndrome 1

Romano-Ward Syndrome

LQT1

Ward-Romano Syndrome

Rws

Ventricular Fibrillation With Prolonged Qt Interval

Wrs

Long Qt Syndrome 1, Acquired, Susceptibility To

Long Qt Syndrome 1, Acquired

Romano-Ward Long Qt Syndrome

Long Qt Syndrome Type 1

Long Qt Syndrome-1

Acquired Susceptibility To Long Qt Syndrome 1

Qt Syndrome, Long, Type 1
Long Qt Syndrome

Romano-Ward Syndrome

Long Q-T Syndrome

Lqt

Qt Syndrome, Long

Congenital Long Qt Syndrome

Familial Long Qt Syndrome
Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy
Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic
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 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-123264 RL648_81 Inhibitor 99.20% 否
HY-RS07177 KCNQ5 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta KCNQ5 VGNC VGNC:74008
Rattus norvegicus KCNQ5 RGD RGD:628848
Canis familiaris KCNQ5 VGNC VGNC:42291
Mus musculus KCNQ5 MGD MGI:1924937
Bos taurus KCNQ5 VGNC VGNC:53795
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