KCNIP2 - potassium voltage-gated channel interacting protein 2 Gene

中文名称：钾电压门控通道相互作用蛋白 2

种属: Homo sapiens

同用名: KCHIP2

基因 ID: 30819 | 基因类型: protein coding

关于 KCNIP2

Cytogenetic location: 10q24.32 Genomic coordinates (GRCh38): 10:101,825,974-101,843,800 (from NCBI)

This gene has 14 transcripts (splice variants), 268 orthologues and 14 paralogues. Biased expression in fat (RPKM 117.8), heart (RPKM 37.5) and 1 other tissue.

功能概要

该基因编码电压门控钾 (Kv) 通道相互作用蛋白 (KCNIP) 家族的成员，属于 EF 手超家族的恢复蛋白分支。 KCNIP 家族的成员是小的钙结合蛋白。它们都具有 EF-hand-like 结构域，并且在 N 端彼此不同。它们是原生 Kv4 通道复合体的组成部分。它们可以调节 A 型电流，从而调节神经元兴奋性，以响应细胞内钙的变化。已从该基因中鉴定出编码不同亚型的多个可变剪接转录物变体。[RefSeq 提供，2008 年 7 月]

This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belongs to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each Other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified from this gene. [provided by RefSeq, Jul 2008]

KCNIP2 基因产物(7)

mRNA	Protein	Name
NM_014591.5	NP_055406.2	Kv channel-interacting protein 2 isoform 1
NM_173191.3	NP_775283.1	Kv channel-interacting protein 2 isoform 2
NM_173192.3	NP_775284.1	Kv channel-interacting protein 2 isoform 3
NM_173193.3	NP_775285.1	Kv channel-interacting protein 2 isoform 4
NM_173194.3	NP_775286.1	Kv channel-interacting protein 2 isoform 5
NM_173195.3	NP_775287.1	Kv channel-interacting protein 2 isoform 6
NM_173197.3	NP_775289.1	Kv channel-interacting protein 2 isoform 7

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
contributes to A-type (transient outward) potassium channel activity	IDA IDA: 通过直接分析推断	21349352	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	15358149	GOA
enables potassium channel regulator activity	IDA IDA: 通过直接分析推断	21493962	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	10551270	GOA
enables transmembrane transporter binding	IPI IPI: 通过物理相互作用推断	21493962	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in action potential	IDA IDA: 通过直接分析推断	14980201	GOA
involved in clustering of voltage-gated potassium channels	IDA IDA: 通过直接分析推断	11287421	GOA
involved in membrane repolarization	IDA IDA: 通过直接分析推断	14980201	GOA
involved in muscle contraction	IDA IDA: 通过直接分析推断	11287421	GOA
involved in positive regulation of potassium ion export across plasma membrane	IDA IDA: 通过直接分析推断	21349352	GOA
involved in regulation of membrane repolarization	IDA IDA: 通过直接分析推断	21493962	GOA
involved in regulation of potassium ion export across plasma membrane	IDA IDA: 通过直接分析推断	21493962	GOA
involved in regulation of potassium ion transmembrane transport	IDA IDA: 通过直接分析推断	21493962	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of Kv4.2-KChIP2 channel complex	IPI IPI: 通过物理相互作用推断	14980201	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	11287421	GOA
part of voltage-gated potassium channel complex	IDA IDA: 通过直接分析推断	21493962	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

KCNIP2 蛋白结构

EF-hand_8

EF-hand_7

0
100
200
270 a.a.

蛋白主名

其他名称

Kv channel-interacting protein 2

A-type potassium channel modulatory protein 2

KCNIP2 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
种属内	KCNIP2	Q9NS61	KCND2	Homo sapiens	Q9NZV8	EM	14980201

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

Spinocerebellar Ataxia Type 19/22

Sca19/22

Spinocerebellar Ataxia 19 And 22

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]

Cardiomyopathy, Dilated, 1e

Left Ventricular Noncompaction 9	Left Ventricular Noncompaction 5
Dilated Cardiomyopathy 1e	Dilated Cardiomyopathy 1s
CMD1E	Cdcd2
Cardiomyopathy, Dilated, 1y	CMD1Y
Cardiomyopathy, Dilated, 1s	CMD1S
Dilated Cardiomyopathy 1y	Dilated Cardiomyopathy With Conduction Defect 2
Dilated Cardiomyopathy With Conduction Disorder And Arrhythmia	Cardiomyopathy, Dilated, With Conduction Disorder And Arrhythmia
Cardiomyopathy, Dilated, With Conduction Defect 2	Cardiomyopathy Dilated With Conduction Defect Type 2
Cardiomyopathy, Dilated 1e	Cardiomyopathy, Dilated 1s
Cardiomyopathy, Dilated 1y	Left Ventricular Non-Compaction 5
LVNC5	Left Ventricular Non-Compaction 9
LVNC9	Cardiomyopathy, Dilated, Type 1e
Cardiomyopathy, Dilated, Type 1s	Cardiomyopathy, Dilated, Type 1y

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

Heart Disease

Heart Failure	Congenital Heart Disease
Heart Diseases	Congenital Heart Defects
Congenital Heart Defect	Heart Malformation
Congenital Anomaly Of Heart	Heart Defect
Heart-Congenital Defect	Congenital Heart Disorder
Heart Defects Congenital	Heart Defects, Congenital
Heart Defects	Heart Disease, Congenital
Disease, Heart, Congenital	Congestive Heart Failure

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 2

LQT2	Long Qt Syndrome, Acquired, Reduced Susceptibility To
Long Qt Syndrome 1/2	Long Qt Syndrome 2/3
Long Qt Syndrome 2/5	Long Qt Syndrome 2, Acquired, Susceptibility To
Long Qt Syndrome, Acquired, Reduced	Long Qt Syndrome Type 2
Long Qt Syndrome 2/9	Lqt1/2
Lqt2/3	Lqt2/5
Lqt2/9	Susceptibility To Acquired Long Qt Syndrome 2
Long Qt Syndrome-2	Qt Syndrome, Long, Type 2
Long Qt Syndrome 1-2	Long Qt Syndrome 2-3
Long Qt Syndrome 2-5	Long Qt Syndrome 9

Heart Conduction Disease

Conduction Disorder Of The Heart

Heart Rhythm Disease

Long Qt Syndrome

Romano-Ward Syndrome	Long Q-T Syndrome
Lqt	Qt Syndrome, Long
Congenital Long Qt Syndrome	Familial Long Qt Syndrome

Familial Atrial Fibrillation

Atrial Fibrillation, Familial	Atfb
Atrial Fibrillation Autosomal Dominant	Autosomal Dominant Atrial Fibrillation
Auricular Fibrillation	Atrial Fibrillation
Atrial Fibrillation, Familial, 1

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy	Primary Dilated Cardiomyopathy
Idiopathic Dilated Cardiomyopathy	Congestive Cardiomyopathy
Idiopathic Dilation Cardiomyopathy	Primary Familial Dilated Cardiomyopathy
Cardiomyopathy, Dilated	DCM
Cardiomyopathy, Familial Dilated	Dilated Cardiomyopathy, Familial
Hypokinetic Dilated Cardiomyopathy, Familial	Familial Idiopathic Cardiomyopathy
Fdc	Cardiomyopathy, Familial Idiopathic
Idiopathic Cardiomegaly	Dilated Congestive Cardiomyopathy
Chronic Dilated Cardiomyopathy	Ccm - [Congestive Cardiomyopathy]
Cocm - [Congestive Cardiomyopathy]	Dcm - [Dilated Cardiomyopathy]
Dilated-Hypokinetic Cardiomyopathy	Congestive Idiopathic Cardiomyopathy
Primary Idiopathic Dilated Cardiomyopathy

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS07133	KCNIP2 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	KCNIP2	VGNC	VGNC:42255
Bos taurus	KCNIP2	VGNC	VGNC:30451
Macaca mulatta	KCNIP2	VGNC	VGNC:73833
Rattus norvegicus	KCNIP2	RGD	RGD:70887
Felis catus	KCNIP2	VGNC	VGNC:63041
Mus musculus	KCNIP2	MGD	MGI:2135916

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