2. Gene
  3. KCNAB2 - potassium voltage-gated channel subfamily A regulatory beta subunit 2 Gene

KCNAB2 - potassium voltage-gated channel subfamily A regulatory beta subunit 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 A 调节 β 亚基 2

种属: Homo sapiens

同用名: AKR6A5; KCNA2B; HKvbeta2; KV-BETA-2; HKvbeta2.1; HKvbeta2.2

基因 ID: 8514 | 基因类型: protein coding

关于 KCNAB2

Cytogenetic location: 1p36.31 Genomic coordinates (GRCh38): 1:5,992,676-6,101,180 (from NCBI)

This gene has 48 transcripts (splice variants), 279 orthologues, 16 paralogues and is associated with 1 phenotype. Broad expression in brain (RPKM 17.0), bone marrow (RPKM 11.9) and 17 other tissues.

功能概要

从功能和结构的角度来看，电压门控钾 (Kv) 通道代表了最复杂的一类电压门控离子通道。它们的不同功能包括调节神经递质释放、心率、胰岛素分泌、神经元兴奋性、上皮电解质转运、平滑肌收缩和细胞体积。四种序列相关的钾通道基因——shaker、shaw、shab 和 shal——已在果蝇中被鉴定出来，并且每一种都被证明具有人类同系物。该基因编码钾通道、电压门控、摇床相关亚家族的成员。该成员是 β 亚基之一，是与功能性 Kv-α 亚基相关的辅助蛋白。该成员改变了 KCNA4 基因产物的功能特性。该基因的可变剪接导致编码不同亚型的多个转录变体。[RefSeq 提供，2010 年 12 月]

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, Insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related Potassium Channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the Potassium Channel, voltage-gated, shaker-related subfamily. This member is one of the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits. This member alters functional properties of the KCNA4 gene product. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2010]

KCNAB2 基因产物(6)

mRNA Protein Name
NM_001199860.2 NP_001186789.1 voltage-gated potassium channel subunit beta-2 isoform 1
NM_001199861.2 NP_001186790.1 voltage-gated potassium channel subunit beta-2 isoform 1
NM_001199862.2 NP_001186791.1 voltage-gated potassium channel subunit beta-2 isoform 3
NM_001199863.2 NP_001186792.1 voltage-gated potassium channel subunit beta-2 isoform 4
NM_003636.4 NP_003627.1 voltage-gated potassium channel subunit beta-2 isoform 1
NM_172130.3 NP_742128.1 voltage-gated potassium channel subunit beta-2 isoform 2
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 potassium channel regulator activity IDA
IDA: 通过直接分析推断
7649300 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21357749 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in regulation of potassium ion transmembrane transport IDA
IDA: 通过直接分析推断
7649300 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in juxtaparanode region of axon IDA
IDA: 通过直接分析推断
11086297 GOA
located in membrane IDA
IDA: 通过直接分析推断
11086297 GOA
part of voltage-gated potassium channel complex IDA
IDA: 通过直接分析推断
11086297 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

KCNAB2 蛋白结构

Aldo_ket_red

Aldo_ket_red: Aldo/keto reductase family (52 - 355)

  • 0
  • 100
  • 200
  • 300
  • 367 a.a.
蛋白主名 其他名称

voltage-gated potassium channel subunit beta-2

K(+) channel subunit beta-2

KCNAB2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra KCNAB2 Q13303 KCNA2 Homo sapiens P16389
Anti Bait CoIP
21357749
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome

Deletion 1p36

Monosomy 1p36

Subtelomeric 1p36 Deletion

Monosomy 1p36 Syndrome

Distal Monosomy 1p36

Del(1)(P36)

Deletion 1pter

Monosomy 1pter
Partial Trisomy Distal 4q

Distal Trisomy 4q

Chromosome 4, Partial Trisomy 4q

Distal 4q Trisomy

Dup Syndrome, Partial

Duplication 4q Syndrome, Partial

Partial Trisomy 4q Syndrome

Distal Duplication 4q

Telomeric Duplication 4q

Trisomy 4qter
Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome

Sudden Unexplained Nocturnal Death Syndrome

Bangungut

Brugada Type Idiopathic Ventricular Fibrillation

Pokkuri Death Syndrome

Sunds

Idiopathic Ventricular Fibrillation, Brugada Type

Sudden Unexplained Death

Dream Disease

Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

Sudden Unexplained Death Syndrome

Suds

Sunds - [Sudden Unexplained Nocturnal Death Syndrome]
Episodic Ataxia, Type 1

Episodic Ataxia Type 1

Episodic Ataxia/Myokymia Syndrome

EA1

Episodic Ataxia With Myokymia

Eam

Ataxia, Episodic, With Myokymia

Aem

Paroxysmal Ataxia With Neuromyotonia, Hereditary

Myokymia With Periodic Ataxia

Episodic Ataxia 1

Aemk

Ea-1

Paroxysmal Ataxia With Neuromyotonia

Myokymia Isolated 1

MK1

Ataxia, Episodic, Type 1

Continuous Muscle Fiber Activity, Hereditary

Isaacs Syndrome
Episodic Ataxia

Isaacs Syndrome

Neuromyotonia

Isaacs' Syndrome

Acquired Neuromyotonia

Continuous Muscle Fiber Activity Syndrome

Quantal Squander Syndrome

Isaacs-Mertens Syndrome

Ea Syndrome

Episodic Ataxia Syndrome

Isaac Syndrome

Isaac'S-Merten'S Syndrome

Isaac-Mertens Syndrome

Peripheral Nerve Hyperexcitability

Ea

Peripheral Nerve Hyperexcitability Syndrome

Ataxia, Episodic

Isaacs Neuromyotonia

Continuous Muscle Fibre Activity
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-RS07104 KCNAB2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus KCNAB2 MGD MGI:109239
Macaca mulatta KCNAB2 VGNC VGNC:73967
Rattus norvegicus KCNAB2 RGD RGD:61828
Felis catus KCNAB2 VGNC VGNC:67895
Bos taurus KCNAB2 VGNC VGNC:30428
Canis familiaris KCNAB2 VGNC VGNC:42234
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