1. Gene
  2. KCNB2 - potassium voltage-gated channel subfamily B member 2 Gene

KCNB2 - potassium voltage-gated channel subfamily B member 2 Gene

中文名称:钾电压门控通道亚家族 B 成员 2

种属: Homo sapiens

同用名: KV2.2

基因 ID: 9312 | 基因类型: protein coding

关于 KCNB2

Cytogenetic location: 8q21.11 Genomic coordinates (GRCh38): 8:72,537,225-72,938,349 (from NCBI)

This gene has 1 transcript (splice variant), 235 orthologues and 31 paralogues. Low expression observed in reference dataset.

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、shab 相关亚家族的成员。该成员是延迟整流钾通道。该基因在胃肠道平滑肌细胞中表达。[RefSeq 提供,2008 年 7 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, shab-related subfamily. This member is a delayed rectifier Potassium Channel. The gene is expressed in gastrointestinal smooth muscle cells. [provided by RefSeq, Jul 2008]

KCNB2 基因产物(1)

mRNA Protein Name
NM_004770.3 NP_004761.2 potassium voltage-gated channel subfamily B member 2
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
33124732 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

KCNB2 蛋白结构

BTB_2

BTB_2: BTB/POZ domain (37 - 136)

Ion_trans

Ion_trans: Ion transport protein (236 - 416)

Kv2channel

Kv2channel: Kv2 voltage-gated K+ channel (471 - 760)

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

potassium voltage-gated channel subfamily B member 2

delayed rectifier potassium channel protein

关联疾病

疾病名称 别名
Developmental And Epileptic Encephalopathy 26

DEE26

Epileptic Encephalopathy, Early Infantile, 26

Eiee26

Early Infantile Epileptic Encephalopathy 26

Developmental And Epileptic Encephalopathy, 26

Encephalopathy, Epileptic, Early Infantile, Type 26

Extragonadal Germ Cell Cancer

Extragonadal Germ Cell Tumor

Extragonadal Germ Cell Malignant Tumor

Neoplasm Of Extragonadal Germ Cell

Tumor Of Extragonadal Germ Cell

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

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]

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

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
Felis catus KCNB2 VGNC VGNC:67898
Bos taurus KCNB2 VGNC VGNC:30431
Macaca mulatta KCNB2 VGNC VGNC:73970
Rattus norvegicus KCNB2 RGD RGD:621349
Mus musculus KCNB2 MGD MGI:99632