SOX2 (SRY-box transcription factor 2)

Gene Basic Information

Gene Basic Information

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

Chromosome Location

Chromosome Location

3q26.33

Gene Summary

Gene Summary

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。

ChineseEnglish

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]

OMIM entry for SOX2     Wikipedia entry for SOX2

Gene Sequence

Gene Sequence

Nucleotide sequence of SOX2:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MYNMMETELK PPGPQQTSGG GGGNSTAAAA GGNQKNSPDR
41VKRPMNAFMV WSRGQRRKMA QENPKMHNSE ISKRLGAEWK
81 LLSETEKRP FIDEAKRLRA LHMKEHPDYK YRPRRKTKTL
121MKKDKYTLPG GLLAPGGNSM ASGVGVGAGL GAGVNQRMDS
161Y AHMNGWSN GSYSMMQDQL GYPQHPGLNA HGAAQMQPMH
201RYDVSALQYN SMTSSQTYMN GSPTYSMSYS QQGTPGMALG
241SM GSVVKSE ASSSPPVVTS SSHSRAPCQA GDLRDMISMY
281LPGAEVPEPA APSRLHMSQH YQSGPVPGTA INGTLPLSHM
结构预测来自 AlphaFold DB（UniProt: P48431），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

Gene Variants

Gene Variants

SNP variants of SOX2:           Showing partial SNPs
rs7626501       rs9867181       rs11915160       rs35095647       rs56073304       rs74480245       rs76690191       rs77677339       rs79454424       rs104893803       rs104893808       rs111474548       rs111486598       rs112714090       rs113663248       rs114716761       rs114948167      

Gene Expression

Gene Expression

Tissue expression of SOX2:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
GAGCACCCGGATTATAAATACC
59
TATCCTTCTTCATGAGCGTC
57
CCCGGATTATAAATACCGGC
58
GTACTTATCCTTCTTCATGAGCG
59
CGGATTATAAATACCGGCCC
58
GTGTACTTATCCTTCTTCATGAGC
59

Transcription Factors

Transcription Factors

Transcription Factors
Target Gene
Interaction Type
PubMed References
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

Gene Ontology

Subcellular localization of SOX2 (and its protein):

[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
  • plasma membrane
  • cytoplasm
  • extracellular
  • golgi
  • vesicle
  • cytoskeleton
  • endoplasmic reticulum
  • nucleus
  • endosome
  • lysosome
  • mitochondrion

Gene Ontology (GO) terms for SOX2:

GO ID
Protein
Source DB
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

Related microRNA

Related microRNA

microRNAs potentially regulating SOX2:     

Gene Interactions

Gene Interactions

String
BioGrid
IntAct
mentha
MINT
Loading…
Interacting Gene Interaction Source/Score

Gene Pathways

Gene Pathways

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source
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

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