DNM2 (dynamin 2)

基因基本信息

基因基本信息

symbol:
DNM2
locus group:
protein-coding gene
location:
19p13.2
gene_family:
Pleckstrin homology domain containing
alias symbol:
DYNII|DYN2|CMTDIB|CMTDI1|DI-CMTB|CMT2M
alias name:
dynamin II|cytoskeletal protein
entrez id:
1785
ensembl gene id:
ENSG00000079805
ucsc gene id:
uc002mpu.3
refseq accession:
NM_004945
hgnc_id:
HGNC:2974
approved reserved:
1996-10-11

基因染色体位置

基因染色体位置

19p13.2
基因染色体位置图

基因简述

基因简述

DNM2（动力蛋白2）是一种编码动力蛋白2的基因，属于动力蛋白（Dynamin）基因家族。动力蛋白家族是一类GTP酶，主要参与膜重塑和囊泡运输过程，尤其是内吞作用。DNM2在细胞内主要调控网格蛋白介导的内吞作用，帮助细胞膜形成囊泡并完成物质运输。此外，DNM2还参与细胞骨架重组、细胞分裂和突触小泡的循环等过程。DNM2蛋白由多个功能域组成，包括GTP酶结构域、中间结构域和PH结构域，这些结构域使其能够结合膜脂质并介导膜裂变。DNM2基因突变可能导致功能异常，与多种疾病相关，最常见的是显性遗传性轴索性周围神经病（CMT2M）和中心核肌病（CNM）。这些突变通常影响GTP酶活性或蛋白稳定性，导致神经或肌肉功能障碍。DNM2过表达可能增强内吞作用，但也会干扰正常膜运输，导致细胞功能紊乱，如突触传递异常或细胞分裂缺陷。相反，DNM2表达降低会抑制内吞作用，影响营养摄取和信号转导，可能导致神经退行性疾病或免疫缺陷。DNM2与其他动力蛋白家族成员（如DNM1和DNM3）具有相似的结构和功能，但组织分布和具体作用有所不同。DNM1主要在神经元中表达，参与突触小泡回收，而DNM3在睾丸和大脑中发挥作用。DNM2则在多种组织中广泛表达，尤其在肌肉和神经系统中起关键作用。研究表明，DNM2还与某些癌症相关，如乳腺癌和胶质母细胞瘤，可能通过调控细胞迁移和侵袭发挥作用。此外，DNM2在病毒感染过程中也扮演重要角色，某些病毒利用DNM2介导的内吞作用进入宿主细胞。因此，DNM2不仅是细胞基本功能的关键调控因子，也是多种疾病的潜在治疗靶点。

Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of the molecule, which contains the GTPase domain. Dynamins are associated with microtubules. They have been implicated in cell processes such as endocytosis and cell motility, and in alterations of the membrane that accompany certain activities such as bone resorption by osteoclasts. Dynamins bind many proteins that bind actin and other cytoskeletal proteins. Dynamins can also self-assemble, a process that stimulates GTPase activity. Five alternatively spliced transcripts encoding different proteins have been described. Additional alternatively spliced transcripts may exist, but their full-length nature has not been determined. [provided by RefSeq, Jun 2010]

Dynamins表示GTP结合蛋白的亚家族中的一个。这些蛋白质共享在分子，其包含GTP酶结构域的N端部分相当的序列相似性。 Dynamins与微管有关。他们已牵涉在细胞过程，如细胞内吞作用和细胞运动，并在伴随某些活动，例如由破骨细胞的骨吸收的膜的改变。 Dynamins绑定结合肌动蛋白和其他细胞骨架蛋白许多蛋白质??。 Dynamins也自我组装，刺激GTP酶活的方法。五个编码不同蛋白可变剪接转录物已有描述。附加可变剪接转录物可能存在，但它们的全长性质尚未确定。 [由RefSeq的，2010年6月提供]

OMIM数据库中对CCND1基因的介绍     Wikipedia数据库中对CCND1基因的介绍

基因序列

基因序列

CCND1基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

DNM2基因的碱基突变：           仅显示部分snp
rs714307       rs734535       rs873015       rs873016       rs892086       rs934435       rs1005039       rs1057884       rs1057886       rs1078654       rs1078655       rs1109375       rs1109376       rs1122245       rs1368459       rs1529744       rs1560706      

基因表达

基因表达

DNM2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
GAGCCCTGTCTGAAATGTG
59
AGGAACTGAGCTTACTGGT
58
ATTCAGTGTCTAGCCAGCG
60
CAATTTGGGCGACTCTGTC
59
GTTCAGGCTAAGTTCAAATCCTC
60
TTAAGTTGCTCATGGTCACAG
59
CATCCATGGAGTCAGGACC
60
GCTCTTTCAGCTTGACGAC
59
AAGAGCCGAGTTTGAAGTG
58
GTAGGAACTGAGCTTCTCG
57
ATCCGTGATGTGGAGAAGG
59
CCTTGTAGACGTTTCTCTGC
59
AGGACCAGATTCTTCTGCTG
60
TACCTACTTGGCAAACCCG
60
TTGAAGCAGAGACCGACAG
60
GGGTCAAGTTCAACACGTG
59
GTTGAGAAGAGGCTACATTGG
59
AGAACTTCCTCTCAGCTGC
59
CCCTACGTAGCAAACTACAG
58
TTGTACTCCTCCACCTCCT
59

转录因子

转录因子

      尚未收录相关数据

基因本体信息

DNM2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

DNM2基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0003924
K7EMQ3 (UniProtKB)
IEA
GO:0005525
K7EMQ3 (UniProtKB)
IEA
GO:0005874
K7EMQ3 (UniProtKB)
IEA
GO:0006897
K7EMQ3 (UniProtKB)
IEA
GO:0003924
K7ENE7 (UniProtKB)
IEA
GO:0005874
K7ENE7 (UniProtKB)
IEA
GO:0006897
K7ENE7 (UniProtKB)
IEA
GO:0003924
K7EPK9 (UniProtKB)
IEA
GO:0005525
K7EPK9 (UniProtKB)
IEA
GO:0005874
K7EPK9 (UniProtKB)
IEA
GO:0006897
K7EPK9 (UniProtKB)
IEA
GO:0000086
P50570 (UniProtKB)
NAS
GO:0000139
P50570 (UniProtKB)
TAS
GO:0000139
P50570 (UniProtKB)
TAS
GO:0000139
P50570 (UniProtKB)
TAS
GO:0000139
P50570 (UniProtKB)
TAS
GO:0001891
P50570 (UniProtKB)
IEA
GO:0001917
P50570 (UniProtKB)
IEA
GO:0002031
P50570 (UniProtKB)
IEA
GO:0003281
P50570 (UniProtKB)
IEA
GO:0003924
P50570 (UniProtKB)
NAS
GO:0003924
P50570 (UniProtKB)
TAS
GO:0003924
P50570 (UniProtKB)
TAS
GO:0003924
P50570 (UniProtKB)
TAS
GO:0005515
P50570 (UniProtKB)
IPI
GO:0005515
P50570 (UniProtKB)
IPI
GO:0005515
P50570 (UniProtKB)
IPI
GO:0005515
P50570 (UniProtKB)
IPI
GO:0005515
P50570 (UniProtKB)
IPI
GO:0005515
P50570 (UniProtKB)
IPI
GO:0005515
P50570 (UniProtKB)
IPI
GO:0005515
P50570 (UniProtKB)
IPI
GO:0005515
P50570 (UniProtKB)
IPI
GO:0005515
P50570 (UniProtKB)
IPI
GO:0005515
P50570 (UniProtKB)
IPI
GO:0005515
P50570 (UniProtKB)
IPI
GO:0005515
P50570 (UniProtKB)
IPI
GO:0005515
P50570 (UniProtKB)
IPI
GO:0005515
P50570 (UniProtKB)
IPI
GO:0005515
P50570 (UniProtKB)
IPI
GO:0005515
P50570 (UniProtKB)
IPI
GO:0005515
P50570 (UniProtKB)
IPI
GO:0005515
P50570 (UniProtKB)
IPI
GO:0005525
P50570 (UniProtKB)
NAS
GO:0005634
P50570 (UniProtKB)
IEA
GO:0005737
P50570 (UniProtKB)
IDA
GO:0005768
P50570 (UniProtKB)
IEA
GO:0005794
P50570 (UniProtKB)
IDA
GO:0005802
P50570 (UniProtKB)
IEA
GO:0005813
P50570 (UniProtKB)
IEA
GO:0005829
P50570 (UniProtKB)
IDA
GO:0005829
P50570 (UniProtKB)
TAS
GO:0005829
P50570 (UniProtKB)
TAS
GO:0005829
P50570 (UniProtKB)
TAS
GO:0005829
P50570 (UniProtKB)
TAS
GO:0005829
P50570 (UniProtKB)
TAS
GO:0005829
P50570 (UniProtKB)
TAS
GO:0005874
P50570 (UniProtKB)
IDA
GO:0005886
P50570 (UniProtKB)
TAS
GO:0005886
P50570 (UniProtKB)
TAS
GO:0005886
P50570 (UniProtKB)
TAS
GO:0005905
P50570 (UniProtKB)
ISS
GO:0005925
P50570 (UniProtKB)
IDA
GO:0006355
P50570 (UniProtKB)
NAS
GO:0006893
P50570 (UniProtKB)
IEA
GO:0006897
P50570 (UniProtKB)
NAS
GO:0006897
P50570 (UniProtKB)
NAS
GO:0006898
P50570 (UniProtKB)
ISS
GO:0006909
P50570 (UniProtKB)
IEA
GO:0007165
P50570 (UniProtKB)
NAS
GO:0007283
P50570 (UniProtKB)
IEA
GO:0008017
P50570 (UniProtKB)
NAS
GO:0009416
P50570 (UniProtKB)
IEA
GO:0010592
P50570 (UniProtKB)
IEA
GO:0014069
P50570 (UniProtKB)
IEA
GO:0017124
P50570 (UniProtKB)
IDA
GO:0019886
P50570 (UniProtKB)
TAS
GO:0019899
P50570 (UniProtKB)
NAS
GO:0019901
P50570 (UniProtKB)
IEA
GO:0030027
P50570 (UniProtKB)
IEA
GO:0030496
P50570 (UniProtKB)
IEA
GO:0030512
P50570 (UniProtKB)
IEA
GO:0030516
P50570 (UniProtKB)
ISS
GO:0030666
P50570 (UniProtKB)
TAS
GO:0030670
P50570 (UniProtKB)
IEA
GO:0031623
P50570 (UniProtKB)
IMP
GO:0031749
P50570 (UniProtKB)
IEA
GO:0032587
P50570 (UniProtKB)
IEA
GO:0033572
P50570 (UniProtKB)
IMP
GO:0035020
P50570 (UniProtKB)
IEA
GO:0035904
P50570 (UniProtKB)
IEA
GO:0036312
P50570 (UniProtKB)
IEA
GO:0042220
P50570 (UniProtKB)
IEA
GO:0043065
P50570 (UniProtKB)
NAS
GO:0043234
P50570 (UniProtKB)
IEA
GO:0044351
P50570 (UniProtKB)
IEA
GO:0045211
P50570 (UniProtKB)
IDA
GO:0045334
P50570 (UniProtKB)
IEA
GO:0045429
P50570 (UniProtKB)
IEA
GO:0045893
P50570 (UniProtKB)
NAS
GO:0048471
P50570 (UniProtKB)
IEA
GO:0048489
P50570 (UniProtKB)
NAS
GO:0048812
P50570 (UniProtKB)
ISS
GO:0050699
P50570 (UniProtKB)
IEA
GO:0050766
P50570 (UniProtKB)
IEA
GO:0050998
P50570 (UniProtKB)
IEA
GO:0050999
P50570 (UniProtKB)
TAS
GO:0060271
P50570 (UniProtKB)
IEA
GO:0060976
P50570 (UniProtKB)
IEA
GO:0070062
P50570 (UniProtKB)
IDA
GO:0070062
P50570 (UniProtKB)
IDA
GO:0071245
P50570 (UniProtKB)
IEA
GO:0071481
P50570 (UniProtKB)
IEA
GO:0071732
P50570 (UniProtKB)
IEA
GO:1900026
P50570 (UniProtKB)
IEA
GO:1903351
P50570 (UniProtKB)
IEA
GO:1903358
P50570 (UniProtKB)
IEA
GO:1903408
P50570 (UniProtKB)
IEA
GO:1903526
P50570 (UniProtKB)
IDA
GO:0030426
P50570 (UniProtKB)
ISS

基因相关microRNA

基因相关microRNA

可能调控 DNM2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
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 0.48 3 0 CLINVAR_CTD_human_ORPHANET_UNIPROT
Myopathy, Centronuclear, Autosomal Dominant 0.36 9 4 CLINVAR_CTD_human_UNIPROT
LETHAL CONGENITAL CONTRACTURE SYNDROME 5 0.36 1 1 CLINVAR_ORPHANET_UNIPROT
Congenital Structural Myopathy 0.1382164 38 0 BeFree_CTD_human_LHGDN
Charcot-Marie-Tooth Disease 0.130877538 20 1 BeFree_CLINVAR_LHGDN
X-linked centronuclear myopathy 0.120542884 2 1 BeFree_CLINVAR
POLYCYSTIC KIDNEY DISEASE 1 0.08 0 0 MGD
Centronuclear myopathy 0.010857675 40 0 BeFree
Alzheimer's Disease 0.008087174 2 0 BeFree_GAD_LHGDN
Malignant neoplasm of breast 0.002909916 3 0 BeFree_GAD

基因相关服务

基因相关服务

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