MEF2A (myocyte enhancer factor 2A)

基因基本信息

基因基本信息

symbol:
MEF2A
locus group:
protein-coding gene
location:
15q26.3
gene_family:
Myocyte enhancer factor 2 proteins
alias symbol:
RSRFC4|RSRFC9
alias name:
None
entrez id:
4205
ensembl gene id:
ENSG00000068305
ucsc gene id:
uc010bos.4
refseq accession:
NM_001130926
hgnc_id:
HGNC:6993
approved reserved:
1995-02-08

基因染色体位置

基因染色体位置

15q26.3
基因染色体位置图

基因简述

基因简述

MEF2A（肌细胞增强因子2A）属于MEF2基因家族，该家族包括MEF2A、MEF2B、MEF2C和MEF2D四个成员，它们共同编码转录因子，通过结合DNA的MEF2响应元件调控基因表达。MEF2家族成员在肌肉发育、神经分化、免疫调节和心血管功能中发挥关键作用，具有高度保守的MADS-box和MEF2结构域，介导DNA结合和蛋白质相互作用。MEF2A主要在心脏、骨骼肌和大脑中表达，参与调控心肌细胞分化、收缩功能及突触可塑性。其表达产物通过激活肌肉特异性基因（如肌球蛋白重链）促进肌生成，并与组蛋白去乙酰化酶（如HDAC4/5）相互作用以动态调节转录活性。MEF2A突变可导致冠状动脉疾病（如缺失突变引起的心肌缺血）或影响神经元发育，某些错义突变会破坏其DNA结合能力或蛋白质稳定性。过表达MEF2A可能增强肌肉分化但诱发心肌肥大，而表达降低则导致肌萎缩或心脏功能障碍。在阿尔茨海默病中，MEF2A活性下降与突触损失相关，而在癌症中其表达异常可能影响细胞增殖。MEF2家族的功能冗余使单个基因缺失可能被其他成员部分补偿，但组织特异性表达差异仍导致独特表型。

The protein encoded by this gene is a DNA-binding transcription factor that activates many muscle-specific, growth factor-induced, and stress-induced genes. The encoded protein can act as a homodimer or as a heterodimer and is involved in several cellular processes, including muscle development, neuronal differentiation, cell growth control, and apoptosis. Defects in this gene could be a cause of autosomal dominant coronary artery disease 1 with myocardial infarction (ADCAD1). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]

由该基因编码的蛋白质是激活许多肌肉特异性的，生长因子诱导，以及应力诱导的基因的DNA结合转录因子。所编码的蛋白质可以作为同二聚体或异二聚体，并参与几个细胞过程，包括肌肉发育，神经元分化，细胞生长控制和凋亡。在这个基因的缺陷可能是常染色体显性冠心病1与心肌梗死（ADCAD1）的一个原因。一些转录变异体的编码不同亚型也发现了这种基因。[由RefSeq的，2010年1月提供]

OMIM数据库中对MEF2A基因的介绍     Wikipedia数据库中对MEF2A基因的介绍

基因序列

基因序列

MEF2A基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

MEF2A基因的碱基突变：           仅显示部分snp
rs325380       rs12442844       rs71403457       rs73482426       rs80301136       rs113470119       rs143260272       rs201866708       rs202164028       rs371075369       rs371371864       rs533461975       rs534209679       rs534904387       rs535251863       rs538633196       rs545541712      

基因表达

基因表达

MEF2A基因在不同组织中的表达：    [UniProt]

基因在不同组织中的表达图

基因引物

基因引物

正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
ACTCAACCTCTTGCTACCC
59
GCTGGTCAGTGAATAATCAGTG
59
TCCGGAGATACGGAATTGC
59
TTCAGCTTCTAGTCCAAGGG
59
TGAAAGGAACCGACAGGTC
59
AGCACACTAAGTTCATAGGCT
59
TCCGGAGATACGGAATTGC
59
CTTCTAGTCCAAGGGCTACAG
59
TGAAAGGAACCGACAGGTC
59
AGCACACTAAGTTCATAGGC
57
ACTCAACCTCTTGCTACCC
59
GTCAGTGAATAATCAGTGTTGTAGG
59
TGAAAGGAACCGACAGGTC
59
GCACACTAAGTTCATAGGCT
57
CACTCAACCTCTTGCTACC
57
GTGAATAATCAGTGTTGTAGGC
57
TCCGGAGATACGGAATTGC
59
CTAGTCCAAGGGCTACAGC
59

转录因子

转录因子

转录因子
影响基因
影响类型
参考文献链接（PubMed）
HDAC4
MEF2A
Repression
17179159
HDAC4
MEF2A
Unknown
10748098
HDAC5
MEF2A
Repression
15194749
HDAC5
MEF2A
Unknown
10748098
HDAC7
MEF2A
Repression
11585834
HDAC9
MEF2A
Repression
12242305; 15194749
MEF2A
COX6A1
Unknown
18222924
MEF2A
JUN
Activation
12054430
MEF2A
JUN
Unknown
10403485
MEF2A
MAPK14
Activation
18073218

基因本体信息

MEF2A基因（以及对应的蛋白质）的细胞分布位置：

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 质膜
  • 细胞质
  • 细胞外
  • 高尔基体
  • 囊泡
  • 细胞骨架
  • 内质网
  • 细胞核
  • 内体
  • 溶酶体
  • 线粒体

MEF2A基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0003677
H0YKY6 (UniProtKB)
IEA
GO:0005634
H0YKY6 (UniProtKB)
IEA
GO:0006351
H0YKY6 (UniProtKB)
IEA
GO:0006355
H0YKY6 (UniProtKB)
IEA
GO:0046983
H0YKY6 (UniProtKB)
IEA
GO:0003677
H0YM62 (UniProtKB)
IEA
GO:0005634
H0YM62 (UniProtKB)
IEA
GO:0006351
H0YM62 (UniProtKB)
IEA
GO:0006355
H0YM62 (UniProtKB)
IEA
GO:0046983
H0YM62 (UniProtKB)
IEA
GO:0003677
H0YNI2 (UniProtKB)
IEA
GO:0005634
H0YNI2 (UniProtKB)
IEA
GO:0006351
H0YNI2 (UniProtKB)
IEA
GO:0006355
H0YNI2 (UniProtKB)
IEA
GO:0046983
H0YNI2 (UniProtKB)
IEA
GO:0000002
Q02078 (UniProtKB)
ISS
GO:0000122
Q02078 (UniProtKB)
IDA
GO:0000165
Q02078 (UniProtKB)
IDA
GO:0000790
Q02078 (UniProtKB)
ISS
GO:0000977
Q02078 (UniProtKB)
IDA
GO:0000978
Q02078 (UniProtKB)
IDA
GO:0000981
Q02078 (UniProtKB)
IDA
GO:0000981
Q02078 (UniProtKB)
IDA
GO:0000981
Q02078 (UniProtKB)
IDA
GO:0001077
Q02078 (UniProtKB)
IDA
GO:0001085
Q02078 (UniProtKB)
IPI
GO:0001105
Q02078 (UniProtKB)
IDA
GO:0003682
Q02078 (UniProtKB)
IDA
GO:0003700
Q02078 (UniProtKB)
IDA
GO:0003705
Q02078 (UniProtKB)
IEA
GO:0005515
Q02078 (UniProtKB)
IPI
GO:0005515
Q02078 (UniProtKB)
IPI
GO:0005515
Q02078 (UniProtKB)
IPI
GO:0005634
Q02078 (UniProtKB)
IDA
GO:0005634
Q02078 (UniProtKB)
IDA
GO:0005654
Q02078 (UniProtKB)
IDA
GO:0005654
Q02078 (UniProtKB)
TAS
GO:0005654
Q02078 (UniProtKB)
TAS
GO:0005667
Q02078 (UniProtKB)
IDA
GO:0005737
Q02078 (UniProtKB)
IDA
GO:0006351
Q02078 (UniProtKB)
IDA
GO:0006366
Q02078 (UniProtKB)
IEA
GO:0006915
Q02078 (UniProtKB)
IEA
GO:0007507
Q02078 (UniProtKB)
IEP
GO:0007517
Q02078 (UniProtKB)
NAS
GO:0019901
Q02078 (UniProtKB)
IEA
GO:0033613
Q02078 (UniProtKB)
IPI
GO:0035035
Q02078 (UniProtKB)
IPI
GO:0042826
Q02078 (UniProtKB)
IPI
GO:0042826
Q02078 (UniProtKB)
IPI
GO:0042826
Q02078 (UniProtKB)
IPI
GO:0042826
Q02078 (UniProtKB)
IPI
GO:0042826
Q02078 (UniProtKB)
IPI
GO:0043565
Q02078 (UniProtKB)
IDA
GO:0045944
Q02078 (UniProtKB)
IDA
GO:0045944
Q02078 (UniProtKB)
IDA
GO:0045944
Q02078 (UniProtKB)
IDA
GO:0045944
Q02078 (UniProtKB)
IDA
GO:0045944
Q02078 (UniProtKB)
IDA
GO:0045944
Q02078 (UniProtKB)
IDA
GO:0046332
Q02078 (UniProtKB)
IPI
GO:0046982
Q02078 (UniProtKB)
IPI
GO:0048311
Q02078 (UniProtKB)
ISS
GO:0048813
Q02078 (UniProtKB)
ISS
GO:0051149
Q02078 (UniProtKB)
TAS
GO:0055005
Q02078 (UniProtKB)
ISS
GO:0061337
Q02078 (UniProtKB)
ISS
GO:0070375
Q02078 (UniProtKB)
IMP
GO:0071277
Q02078 (UniProtKB)
IDA
GO:0005515
Q02078 (UniProtKB)
IPI

基因相关microRNA

基因相关microRNA

可能调控 MEF2A基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

Reactome

MINT

BioGrid

IntAct

mentha

String

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称

基因通路

基因通路

基因相关疾病

基因相关疾病

疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 0.24 0 0 CLINVAR_CTD_human
Diabetes Mellitus, Experimental 0.08 1 0 RGD
Myocardial Infarction 0.022451187 13 1 BeFree_GAD_LHGDN
Coronary Artery Disease 0.01869327 21 0 BeFree_GAD_LHGDN
Coronary Arteriosclerosis 0.014354082 19 0 BeFree_GAD
Coronary heart disease 0.007338862 17 0 BeFree_LHGDN
Liver carcinoma 0.002995792 2 0 BeFree_LHGDN
Diaphragmatic Hernia 0.002995792 1 0 BeFree_LHGDN
Alzheimer's Disease 0.00272435 1 0 LHGDN
Diabetes Mellitus 0.002638474 2 0 BeFree_GAD

基因相关服务

基因相关服务

联系方式

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