KCNN3 - potassium calcium-activated channel subfamily N member 3 Gene

中文名称：钾钙激活通道亚家族 N 成员 3

种属: Homo sapiens

同用名: SK3; ZLS3; hSK3; SKCA3; KCa2.3

基因 ID: 3782 | 基因类型: protein coding

关于 KCNN3

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:154,697,455-154,870,281 (from NCBI)

This gene has 5 transcripts (splice variants), 135 orthologues, 3 paralogues and is associated with 3 phenotypes. Broad expression in brain (RPKM 8.1), endometrium (RPKM 1.9) and 16 other tissues.

功能概要

脊椎动物神经元的动作电位之后是可能持续数秒的后超极化 (AHP) ，并且可能对神经元的放电模式产生深远影响。 AHP 的每个组成部分在动力学上都是不同的，并且由不同的钙激活钾通道介导。该基因属于钾通道的 KCNN 家族。它编码一种完整的膜蛋白，形成电压独立的钙激活通道，被认为通过促进突触 AHP 的缓慢成分来调节神经元兴奋性。该基因在编码序列中包含两个 CAG 重复区域。人们认为这些重复中的一个或两个的扩展可能导致对精神分裂症或双相情感障碍的易感性增加，但研究表明情况可能并非如此。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2011 年 2 月]

Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. This gene belongs to the KCNN family of potassium channels. It encodes an integral membrane protein that forms a voltage-independent calcium-activated channel, which is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene contains two CAG repeat regions in the coding sequence. It was thought that expansion of one or both of these repeats could lead to an increased susceptibility to schizophrenia or bipolar disorder, but studies indicate that this is probably not the case. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]

KCNN3 基因产物(5)

mRNA	Protein	Name
NM_001204087.2	NP_001191016.1	small conductance calcium-activated potassium channel protein 3 isoform c
NM_001365837.1	NP_001352766.1	small conductance calcium-activated potassium channel protein 3 isoform d
NM_001365838.1	NP_001352767.1	small conductance calcium-activated potassium channel protein 3 isoform e
NM_002249.6	NP_002240.3	small conductance calcium-activated potassium channel protein 3 isoform a
NM_170782.3	NP_740752.1	small conductance calcium-activated potassium channel protein 3 isoform b

基因本体论

分子功能
生物过程

分子功能 GO 注释	逻辑证据	参考文献	来源
enables calmodulin binding	IDA IDA: 通过直接分析推断	31155282	GOA
enables inward rectifier potassium channel activity	IDA IDA: 通过直接分析推断	12382077	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	32296183	GOA
enables small conductance calcium-activated potassium channel activity	IDA IDA: 通过直接分析推断	12382077	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	12382077	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

KCNN3 蛋白结构

SK_channel

Ion_trans_2

CaMBD

0
200
400
600
731 a.a.

蛋白主名

其他名称

small conductance calcium-activated potassium channel protein 3

SKCa 3

关联疾病

疾病名称

别名

Zimmermann-Laband Syndrome 3

ZLS3

Zimmermann-Laband Syndrome

Gingival Fibromatosis-Hepatosplenomegaly-Other Anomalies Syndrome	Laband Syndrome
Zimmerman Laband Syndrome

Bipolar Disorder

Bipolar Depression	Manic Disorder
Depression, Bipolar	Bipolar Disorder Manic Phase
Depressive-Manic Psych.	Manic Bipolar Affective Disorder
Manic Bipolar I Disorder	Manic Depression
Manic Depressive Disorder	Mixed Bipolar Disorder
Bipolar Affective Disorder	Bipolar Affective Psychosis
Bipolar Spectrum Disorder	Manic Depressive Illness
Depression Bipolar	Bipolar Disorder, Mixed
Major Affective Disorder	Major Affective Disorder 1
Major Affective Disorder 2

Spinocerebellar Ataxia 2

Spinocerebellar Ataxia Type 2	SCA2
Amyotrophic Lateral Sclerosis 13	Spinocerebellar Degeneration With Slow Eye Movements
SDSEM	Spinocerebellar Atrophy Ii
Olivopontocerebellar Atrophy Ii	Opca2
Cerebellar Degeneration With Slow Eye Movements	Wadia-Swami Syndrome
Amyotrophic Lateral Sclerosis Type 13	ALS13
Olivopontocerebellar Atrophy Holguin Type	Spinocerebellar Ataxia Cuban Type
Olivopontocerebellar Atrophy, Holguin Type	Spinocerebellar Ataxia, Cuban Type
Amyotrophic Lateral Sclerosis, Susceptibility To, 13	Olivopontocerebellar Atrophy 2
Sca 2	Spinocerebellar Ataxia With Slow Eye Movements
Spinocerebellar Atrophy 2	Wadia Swami Syndrome
Opca Ii	Spinocerebellar Ataxia-2
Ataxia, Spinocerebellar, Type 2

Anorexia Nervosa

Anorexia Nervosa, Susceptibility To	ANON
Anorexia Nervosa, Susceptibility To, 1	An
Anorexia Nervosa 1	An - [Anorexia Nervosa]

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

Myotonic Dystrophy 1

Myotonic Dystrophy	Dystrophia Myotonica
Steinert Disease	Myotonic Dystrophy Type 1
Myotonia Atrophica	DM1
Congenital Myotonic Dystrophy	Myotonia Dystrophica
Steinert Myotonic Dystrophy	Dystrophia Myotonica 1
Dm	Steinert'S Disease
Steinert Myotonic Dystrophy Syndrome	Myotonic Dystrophy Of Steinert
Dystrophia Myotonica Type 1	Myotonic Dystrophy Congenital
Dystrophy, Myotonic, Type 1	Dm - [Dystrophia Myotonica]
Myotonic Muscular Dystrophy

Hypertrichosis

Hirschsprung Disease 1

Hirschsprung Disease	Aganglionic Megacolon
Hscr	Hirschsprung'S Disease
Congenital Megacolon	Congenital Intestinal Aganglionosis
Colonic Aganglionosis	Hirschsprung Disease, Susceptibility To, 1
Hirschsprung Disease, Protection Against	HSCR1
Mgc	Pelvirectal Achalasia
Total Intestinal Aganglionosis	Megacolon, Aganglionic
Macrocolon	Hscr 1
Hirschsprung Disease Type 1	Hirschsprung Disease, Type 1
Congenital Dilatation Of Colon	Aganglionosis
Congenital Aganglionic Megacolon	Aganglionosis Of Colon
Bowel Aganglionosis	Colon Aganglionosis
Hirschsprung Megacolon

Vascular Disease

Vascular Diseases	Aneurysm
Spinal Cord Ischemia	Vascular Anomaly
Spinal Cord Vascular Diseases	Vascular Tissue Disease

Episodic Ataxia, Type 2

Episodic Ataxia Type 2	EA2
Apca	Capa
Cerebellopathy, Hereditary Paroxysmal	Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia
Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive	Episodic Ataxia With Nystagmus
Ataxia, Episodic, With Nystagmus	Episodic Ataxia, Nystagmus-Associated
Ataxia, Familial Paroxysmal	Acetazolamide-Responsive Episodic Ataxia Syndrome
Acetazolamide-Responsive, Hereditary, Paroxysmal, Cerebellar Ataxia	Ataxia, Familial, Paroxysmal
Nystagmus-Associated Episodic Ataxia	Familial Paroxysmal Ataxia
Episodic Ataxia 2	Ea-2
Episodic Ataxia Nystagmus-Associated	Hereditary Paroxysmal Cerebellopathy
Ataxia, Episodic, Type 2

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-RS07171	KCNN3 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	KCNN3	RGD	RGD:2964
Felis catus	KCNN3	VGNC	VGNC:107887
Bos taurus	KCNN3	VGNC	VGNC:30485
Mus musculus	KCNN3	MGD	MGI:2153183
Macaca mulatta	KCNN3	VGNC	VGNC:74004
Canis familiaris	KCNN3	VGNC	VGNC:42286

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上海工商

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沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

KCNN3 - potassium calcium-activated channel subfamily N member 3 Gene

关于 KCNN3

功能概要

KCNN3 基因产物(5)

KCNN3 蛋白结构

关联疾病

直系同源

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KCNN3 - potassium calcium-activated channel subfamily N member 3 Gene

关于 KCNN3

功能概要

KCNN3 基因产物(5)

KCNN3 蛋白结构

关联疾病

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直系同源

热门区域

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