CAMK2A - calcium/calmodulin dependent protein kinase II alpha Gene

中文名称：钙/钙调蛋白依赖性蛋白激酶 II α

种属: Homo sapiens

同用名: CAMKA; MRD53; MRT63; CaMKIIalpha; CaMKIINalpha

基因 ID: 815 | 基因类型: protein coding

关于 CAMK2A

Cytogenetic location: 5q32 Genomic coordinates (GRCh38): 5:150,219,491-150,290,130 (from NCBI)

This gene has 23 transcripts (splice variants), 167 orthologues, 22 paralogues and is associated with 4 phenotypes. Restricted expression toward brain (RPKM 112.2).

功能概要

该基因的产物属于丝氨酸/苏氨酸蛋白激酶家族，以及 CA (2+) /钙调蛋白依赖性蛋白激酶亚家族。钙信号对于谷氨酸能突触可塑性的几个方面至关重要。这种钙调蛋白依赖性蛋白激酶由四种不同的链组成：α、β、γ 和 δ。由该基因编码的 alpha 链是海马长时程增强 (LTP) 和空间学习所必需的。除了其钙钙调蛋白 (CaM) 依赖性活性外，该蛋白质还可以进行自身磷酸化，从而产生 CaM 非依赖性活性。已经为该基因鉴定了几种编码不同亚型的转录物变体。[RefSeq 提供，2018 年 6 月]

The product of this gene belongs to the serine/threonine protein kinases family, and to the CA(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. This calcium calmodulin-dependent protein kinase is composed of four different chains: alpha, beta, gamma, and delta. The alpha chain encoded by this gene is required for hippocampal long-term potentiation (LTP) and spatial learning. In addition to its calcium-calmodulin (CaM)-dependent activity, this protein can undergo autophosphorylation, resulting in CaM-independent activity. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2018]

CAMK2A 基因产物(5)

mRNA	Protein	Name
NM_015981.4	NP_057065.2	calcium/calmodulin-dependent protein kinase type II subunit alpha isoform 1
NM_001369025.2	NP_001355954.1	calcium/calmodulin-dependent protein kinase type II subunit alpha isoform 3
NM_171825.3	NP_741960.1	calcium/calmodulin-dependent protein kinase type II subunit alpha isoform 2
NM_001363990.1	NP_001350919.1	calcium/calmodulin-dependent protein kinase type II subunit alpha isoform 2
NM_001363989.1	NP_001350918.1	calcium/calmodulin-dependent protein kinase type II subunit alpha isoform 1

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 calcium/calmodulin-dependent protein kinase activity	IDA IDA: 通过直接分析推断	11972023	GOA
enables calmodulin binding	IPI IPI: 通过物理相互作用推断	20668654	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	20668654	GOA
enables kinase activity	IDA IDA: 通过直接分析推断	17052756	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	17052756	GOA
enables protein homodimerization activity	IPI IPI: 通过物理相互作用推断	20668654	GOA
enables protein serine/threonine kinase activity	IDA IDA: 通过直接分析推断	28130356	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in angiotensin-activated signaling pathway	IDA IDA: 通过直接分析推断	20584908	GOA
involved in cellular response to interferon-beta	IDA IDA: 通过直接分析推断	35568036	GOA
involved in cellular response to type II interferon	IDA IDA: 通过直接分析推断	11972023	GOA
involved in dendritic spine development	IMP IMP: 通过突变表型推断	28130356	GOA
involved in peptidyl-threonine autophosphorylation	IMP IMP: 通过突变表型推断	28130356	GOA
involved in positive regulation of NF-kappaB transcription factor activity	IMP IMP: 通过突变表型推断	17052756	GOA
involved in positive regulation of receptor signaling pathway via JAK-STAT	IDA IDA: 通过直接分析推断	11972023	GOA
involved in protein phosphorylation	IDA IDA: 通过直接分析推断	17052756	GOA
involved in regulation of neuron migration	IMP IMP: 通过突变表型推断	29100089	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of calcium- and calmodulin-dependent protein kinase complex	IDA IDA: 通过直接分析推断	20668654	GOA
located in dendritic spine	IDA IDA: 通过直接分析推断	28130356	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

CAMK2A 蛋白结构

Pkinase

CaMKII_AD

0
100
200
300
400
478 a.a.

蛋白主名

其他名称

calcium/calmodulin-dependent protein kinase type II subunit alpha

CaM kinase II alpha subunit	CaM-kinase II alpha chain
CaMK-II alpha subunit	caM kinase II subunit alpha
caMK-II subunit alpha	calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha
calcium/calmodulin-dependent protein kinase II alpha-B subunit	calcium/calmodulin-dependent protein kinase type II alpha chain

重组 CAMK2A 蛋白

目录号	产品名	蛋白编号	纯度
HY-P76761	CaMKII alpha/CAMK2A Protein, Human (sf9, GST)	Q9UQM7-1 (M1-H478)	≥95%

关联疾病

疾病名称

别名

Rett Syndrome

Atypical Rett Syndrome	RTT
Rts	Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use
Rett Syndrome, Atypical	Rett Syndrome, Preserved Speech Variant
Rett'S Disorder	Rett Syndrome Variant
Rett Disorder	Cerebroatrophic Hyperammonemia
Rett Like Syndrome	Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome
Rett'S Syndrome	Atypical Rtt
Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use	Rett Syndrome Preserved Speech Variant
Rett Syndrome Zappella Variant	Rett Syndrome, Zappella Variant

Fragile X Syndrome

FXS	Martin-Bell Syndrome
Fraxa Syndrome	Marker X Syndrome
X-Linked Mental Retardation And Macroorchidism	Fragile X Mental Retardation Syndrome
Fra Syndrome	Mental Retardation, X-Linked, Associated With Marxq28
Frax Syndrome	Symptomatic Form Of Fragile X Syndrome In Female Carriers
Fragile-X Syndrome	Fraxe Syndrome

Schizophrenia 12

Sczd12

Schizophrenia Susceptibility Locus, Chromosome 1p-Related

Intellectual Developmental Disorder, Autosomal Recessive 63

MRT63

Mental Retardation, Autosomal Recessive 63

Intellectual Developmental Disorder, Autosomal Dominant 53

MRD53	Mental Retardation, Autosomal Dominant 53
Autosomal Dominant Intellectual Developmental Disorder 53	Autosomal Dominant Mental Retardation 53
Mental Retardation, Autosomal Dominant, Type 53

Schizophrenia

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

Autosomal Dominant Non-Syndromic Intellectual Disability

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-137506	XST-14		99.26%	否
HY-RS01854	CAMK2A Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS01855	Camk2a Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS01856	Camk2a Rat Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	CAMK2A	VGNC	VGNC:38680
Macaca mulatta	CAMK2A	VGNC	VGNC:70523
Bos taurus	CAMK2A	VGNC	VGNC:26721
Rattus norvegicus	CAMK2A	RGD	RGD:2261
Felis catus	CAMK2A	VGNC	VGNC:60331
Mus musculus	CAMK2A	MGD	MGI:88256
Others	CAMK2A	NCBI

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