SOX2 (SRY-box transcription factor 2)

基因基本信息

基因基本信息

symbol:
SOX2
locus group:
protein-coding gene
location:
3q26.33
gene_family:
SRY (sex determining region Y)-boxes
alias symbol:
None
alias name:
None
entrez id:
6657
ensembl gene id:
ENSG00000181449
ucsc gene id:
uc003fkx.4
refseq accession:
NM_003106
hgnc_id:
HGNC:11195
approved reserved:
1993-11-30

基因染色体位置

基因染色体位置

3q26.33
基因染色体位置图

基因简述

基因简述

SOX2（SRY-box transcription factor 2）是一种重要的转录因子，属于SOX基因家族（SRY-related HMG-box family），该家族成员均含有一个保守的高迁移率族（HMG）结构域，能够结合DNA并调控基因表达。SOX2在胚胎发育中起核心作用，尤其在维持多能干细胞（如胚胎干细胞）的自我更新和分化潜能中不可或缺。它通过与OCT4、NANOG等其他转录因子协同作用，激活或抑制下游靶基因，参与神经发育、视网膜形成及多种器官的发生。SOX2的主要作用位点包括早期胚胎的外胚层、神经管、眼睛和脑部，其表达异常会导致严重发育缺陷。例如，SOX2突变可引发无眼/小眼症、垂体功能障碍或智力障碍等综合征。在癌症中，SOX2的过表达常见于肺鳞癌、胶质瘤等肿瘤，促进细胞增殖和转移，而表达降低则可能导致干细胞特性丧失。SOX2基因家族（含SOX1-SOX21等）的共性是通过HMG结构域识别特定DNA序列（如AACAAT），调控发育和细胞命运决定。过表达SOX2可能抑制分化、维持干细胞态，但也会诱发肿瘤；表达不足则导致发育停滞或组织退化。此外，SOX2与Wnt、FGF等信号通路交互，影响其他基因（如Nestin、FGF4）的表达，其动态平衡对机体至关重要。

This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT). [provided by RefSeq, Jul 2008]

此内含子基因编码SRY相关HMG盒（SOX）家族参与胚胎发育的调节和细胞命运的决定转录因子的成员。需要该基因的产物为干细胞维持在中枢神经系统中，并还规定在胃中的基因表达。在这种基因突变与视神经发育不全和综合征小眼球，结构眼畸形的一个严重的形式相关联。该基因位于被称为SOX2另一种基因转录重叠（SOX2OT）的内含子中。 [由RefSeq的，2008年7月提供]

OMIM数据库中对SOX2基因的介绍     Wikipedia数据库中对SOX2基因的介绍

基因序列

基因序列

SOX2基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

SOX2基因的碱基突变：           仅显示部分snp
rs7626501       rs9867181       rs11915160       rs35095647       rs56073304       rs74480245       rs76690191       rs77677339       rs79454424       rs104893803       rs104893808       rs111474548       rs111486598       rs112714090       rs113663248       rs114716761       rs114948167      

基因表达

基因表达

SOX2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
GAGCACCCGGATTATAAATACC
59
TATCCTTCTTCATGAGCGTC
57
CCCGGATTATAAATACCGGC
58
GTACTTATCCTTCTTCATGAGCG
59
CGGATTATAAATACCGGCCC
58
GTGTACTTATCCTTCTTCATGAGC
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）
ID4
SOX2
Unknown
23613880
KDM2A
SOX2
Unknown
23872478
POU5F1
SOX2
Activation
17068183
SOX2
ABCC3
Activation
21531766
SOX2
ABCC6
Activation
21531766
SOX2
ASXL1
Activation
22542624
SOX2
BMP4
Repression
24477565
SOX2
CCND1
Unknown
18456656
SOX2
DKK1
Activation
22015605
SOX2
FGF4
Activation
10801796

基因本体信息

SOX2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

SOX2基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0000122
P48431 (UniProtKB)
ISS
GO:0000976
P48431 (UniProtKB)
IEA
GO:0001077
P48431 (UniProtKB)
IEA
GO:0001649
P48431 (UniProtKB)
IDA
GO:0001654
P48431 (UniProtKB)
IEP
GO:0001714
P48431 (UniProtKB)
IDA
GO:0003677
P48431 (UniProtKB)
IDA
GO:0003677
P48431 (UniProtKB)
IDA
GO:0003677
P48431 (UniProtKB)
IDA
GO:0003677
P48431 (UniProtKB)
IDA
GO:0003677
P48431 (UniProtKB)
NAS
GO:0003700
P48431 (UniProtKB)
IDA
GO:0003700
P48431 (UniProtKB)
IDA
GO:0003700
P48431 (UniProtKB)
NAS
GO:0005515
P48431 (UniProtKB)
IPI
GO:0005515
P48431 (UniProtKB)
IPI
GO:0005515
P48431 (UniProtKB)
IPI
GO:0005634
P48431 (UniProtKB)
IC
GO:0005634
P48431 (UniProtKB)
IDA
GO:0005634
P48431 (UniProtKB)
IDA
GO:0005634
P48431 (UniProtKB)
IDA
GO:0005634
P48431 (UniProtKB)
NAS
GO:0005654
P48431 (UniProtKB)
IDA
GO:0005654
P48431 (UniProtKB)
TAS
GO:0005654
P48431 (UniProtKB)
TAS
GO:0005654
P48431 (UniProtKB)
TAS
GO:0005654
P48431 (UniProtKB)
TAS
GO:0005654
P48431 (UniProtKB)
TAS
GO:0005654
P48431 (UniProtKB)
TAS
GO:0005654
P48431 (UniProtKB)
TAS
GO:0005654
P48431 (UniProtKB)
TAS
GO:0005654
P48431 (UniProtKB)
TAS
GO:0005654
P48431 (UniProtKB)
TAS
GO:0005654
P48431 (UniProtKB)
TAS
GO:0005654
P48431 (UniProtKB)
TAS
GO:0005654
P48431 (UniProtKB)
TAS
GO:0005654
P48431 (UniProtKB)
TAS
GO:0005654
P48431 (UniProtKB)
TAS
GO:0005654
P48431 (UniProtKB)
TAS
GO:0005654
P48431 (UniProtKB)
TAS
GO:0005654
P48431 (UniProtKB)
TAS
GO:0005654
P48431 (UniProtKB)
TAS
GO:0005667
P48431 (UniProtKB)
TAS
GO:0005737
P48431 (UniProtKB)
IDA
GO:0005829
P48431 (UniProtKB)
IDA
GO:0006325
P48431 (UniProtKB)
NAS
GO:0006355
P48431 (UniProtKB)
IDA
GO:0006355
P48431 (UniProtKB)
NAS
GO:0006366
P48431 (UniProtKB)
IEA
GO:0007050
P48431 (UniProtKB)
IDA
GO:0009611
P48431 (UniProtKB)
IEP
GO:0010468
P48431 (UniProtKB)
IMP
GO:0021781
P48431 (UniProtKB)
NAS
GO:0021983
P48431 (UniProtKB)
IEP
GO:0021984
P48431 (UniProtKB)
IEA
GO:0022409
P48431 (UniProtKB)
IEA
GO:0030900
P48431 (UniProtKB)
IEP
GO:0035019
P48431 (UniProtKB)
IMP
GO:0035019
P48431 (UniProtKB)
IDA
GO:0035019
P48431 (UniProtKB)
IMP
GO:0035019
P48431 (UniProtKB)
TAS
GO:0035198
P48431 (UniProtKB)
IDA
GO:0042246
P48431 (UniProtKB)
IEA
GO:0043281
P48431 (UniProtKB)
IDA
GO:0043410
P48431 (UniProtKB)
IDA
GO:0043565
P48431 (UniProtKB)
IDA
GO:0044212
P48431 (UniProtKB)
IDA
GO:0045597
P48431 (UniProtKB)
IEA
GO:0045665
P48431 (UniProtKB)
ISS
GO:0045893
P48431 (UniProtKB)
IDA
GO:0045944
P48431 (UniProtKB)
IDA
GO:0045944
P48431 (UniProtKB)
IDA
GO:0048839
P48431 (UniProtKB)
IEP
GO:0050680
P48431 (UniProtKB)
IDA
GO:0070848
P48431 (UniProtKB)
IDA
GO:0090090
P48431 (UniProtKB)
IDA
GO:0097150
P48431 (UniProtKB)
ISS

基因相关microRNA

基因相关microRNA

可能调控 SOX2基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

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
Microphthalmia, Syndromic 3 0.360814326 3 0 BeFree_CLINVAR_CTD_human_ORPHANET
Anophthalmos 0.13806451 23 0 BeFree_CTD_human_GAD_LHGDN
Squamous cell carcinoma 0.125428837 20 0 BeFree_CTD_human
Septo-Optic Dysplasia 0.123538676 3 0 BeFree_LHGDN_ORPHANET
Squamous cell carcinoma of esophagus 0.121900093 7 0 BeFree_CTD_human
Lung Neoplasms 0.121357209 6 0 BeFree_CTD_human
Small cell carcinoma of lung 0.121085767 4 0 BeFree_CTD_human
Thoracic Neoplasms 0.12 1 0 CTD_human
Sarcoma 0.12 1 0 CTD_human
Diabetes Mellitus, Experimental 0.08 1 0 RGD

基因相关服务

基因相关服务

联系方式

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