1. Gene
  2. KCNN2 - potassium calcium-activated channel subfamily N member 2 Gene

KCNN2 - potassium calcium-activated channel subfamily N member 2 Gene

中文名称:钾钙激活通道亚家族 N 成员 2

种属: Homo sapiens

同用名: SK2; hSK2; DYT34; SKCA2; KCa2.2; NEDMAB; SKCa 2

基因 ID: 3781 | 基因类型: protein coding

关于 KCNN2

Cytogenetic location: 5q22.3 Genomic coordinates (GRCh38): 5:114,055,978-114,496,496 (from NCBI)

This gene has 11 transcripts (splice variants), 141 orthologues, 3 paralogues and is associated with 2 phenotypes. Biased expression in adrenal (RPKM 4.9), liver (RPKM 3.5) and 8 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。由该基因编码的蛋白质在膜超极化之前被激活,并被认为通过促进突触 AHP 的缓慢成分来调节神经元兴奋性。该基因是钾通道基因 KCNN 家族的成员。编码的蛋白质是一种完整的膜蛋白,与其他三个钙调蛋白结合亚基形成电压依赖性钙激活通道。该基因的交替剪接导致多个转录变体。[RefSeq 提供,2013 年 5 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. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene is a member of the KCNN family of Potassium Channel genes. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three Other calmodulin-binding subunits. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]

KCNN2 基因产物(3)

mRNA Protein Name
NM_001372233.1 NP_001359162.1 small conductance calcium-activated potassium channel protein 2 isoform c
NM_021614.4 NP_067627.3 small conductance calcium-activated potassium channel protein 2 isoform a
NM_170775.3 NP_740721.1 small conductance calcium-activated potassium channel protein 2 isoform b

KCNN2 蛋白结构

SK_channel

SK_channel: Calcium-activated SK potassium channel (120 - 238)

Ion_trans_2

Ion_trans_2: Ion channel (319 - 397)

CaMBD

CaMBD: Calmodulin binding domain (412 - 488)

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  • 579 a.a.
蛋白主名 其他名称

small conductance calcium-activated potassium channel protein 2

apamin-sensitive small-conductance Ca2+-activated potassium channel

KCNN2 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
KCNN2 Q9H2S1 ACTN2 Homo sapiens P35609
Y2H
19815520
种属内
KCNN2 Q9H2S1 ACTN2 Homo sapiens P35609 19815520
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
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities

NEDMAB

Dystonia 34, Myoclonic

DYT34

Aceruloplasminemia

Cerebellar Ataxia

Hypoceruloplasminemia

Hemosiderosis, Systemic, Due To Aceruloplasminemia

Familial Apoceruloplasmin Deficiency

Hereditary Ceruloplasmin Deficiency

Deficiency Of Ferroxidase

Hypoceruloplasminemia, Hereditary

Ceruloplasmin Deficiency

Systemic Hemosiderosis Due To Aceruloplasminemia

ACERULOP

Deafness, Autosomal Recessive 100

DFNB100

Autosomal Recessive Nonsyndromic Deafness 100

Autosomal Recessive Deafness 100

Deafness, Autosomal Recessive, 100

Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

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
Rattus norvegicus KCNN2 RGD RGD:2963
Felis catus KCNN2 VGNC VGNC:67927
Bos taurus KCNN2 VGNC VGNC:30484
Canis familiaris KCNN2 VGNC VGNC:42285
Mus musculus KCNN2 MGD MGI:2153182
Macaca mulatta KCNN2 VGNC VGNC:74003