SOX4 (SRY-box transcription factor 4)

Gene Basic Information

Gene Basic Information

symbol:
SOX4
locus group:
protein-coding gene
location:
6p22.3
gene_family:
SRY (sex determining region Y)-boxes
alias symbol:
None
alias name:
None
entrez id:
6659
ensembl gene id:
ENSG00000124766
ucsc gene id:
uc003ndi.4
refseq accession:
NM_003107
hgnc_id:
HGNC:11200
approved reserved:
1993-11-30

Chromosome Location

Chromosome Location

6p22.3

Gene Summary

Gene Summary

SOX4基因属于SOX（SRY-related HMG-box）基因家族，该家族由20多个成员组成，其共同特点是编码含有高迁移率族（HMG）结构域的转录因子，能够结合DNA并调控基因表达。SOX家族在胚胎发育、细胞命运决定和组织分化中发挥关键作用。SOX4基因位于人类6号染色体（6p22.3），编码一种转录因子，通过其HMG结构域结合特定DNA序列（如AACAAT或AACAAAG），激活或抑制下游靶基因的表达。SOX4在多种组织中表达，尤其在神经系统、心脏、骨骼和免疫系统的发育过程中至关重要。它参与调控细胞增殖、分化、凋亡和迁移，并在维持干细胞多能性中发挥作用。SOX4的突变或表达异常与多种疾病相关。例如，SOX4的过表达常见于多种癌症（如乳腺癌、肺癌、前列腺癌和白血病），可能通过激活Wnt/β-catenin、PI3K/AKT等信号通路促进肿瘤发生、转移和耐药性。此外，SOX4的缺失或功能丧失性突变与发育障碍相关，如神经发育异常和免疫缺陷。在B细胞发育中，SOX4的缺失会导致B细胞分化阻滞。SOX4的表达水平变化对其他基因也有广泛影响。过表达可能上调促癌基因（如MYC、CCND1）或抑制抑癌基因（如TP53），而低表达可能导致发育相关基因（如SOX11、SOX12）的功能代偿。SOX家族成员（如SOX2、SOX9、SOX17）在功能上存在冗余或协同，但各自又有组织特异性。例如，SOX4与SOX11在神经发育中功能重叠，但SOX4在心脏发育中的作用更为突出。SOX4的调控异常还与自身免疫性疾病（如类风湿性关节炎）和心血管疾病相关。其表达受表观遗传修饰（如DNA甲基化、组蛋白修饰）和非编码RNA（如miR-335）的调控。研究SOX4有助于理解发育机制和疾病治疗靶点，例如在癌症中靶向SOX4或其下游通路可能成为新的治疗策略。

ChineseEnglish

None

OMIM entry for SOX4     Wikipedia entry for SOX4

Gene Sequence

Gene Sequence

Nucleotide sequence of SOX4:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MVQQTNNAEN TEALLAGESS DSGAGLELGI ASSPTPGSTA
41STGGKADDPS WCKTPSGHIK RPMNAFMVWS QIERRKIMEQ
81 SPDMHNAEI SKRLGKRWKL LKDSDKIPFI REAERLRLKH
121MADYPDYKYR PRKKVKSGNA NSSSSAAASS KPGEKGDKVG
161G SGGGGHGG GGGGGSSNAG GGGGGASGGG ANSKPAQKKS
201CGSKVAGGAG GGVSKPHAKL ILAGGGGGGK AAAAAAASFA
241AE QAGAAAL LPLGAAADHH SLYKARTPSA SASASSAASA
281SAALAAPGKH LAEKKVKRVY LFGGLGTSSS PVGGVGAGAD
321PSD PLGLYE EEGAGCSPDA PSLSGRSSAA SSPAAGRSPA
361DHRGYASLRA ASPAPSSAPS HASSSASSHS SSSSSSGSSS
401SDDE FEDDL LDLNPSSNFE SMSLGSFSSS SALDRDLDFN
441FEPGSGSHFE FPDYCTPEVS EMISGDWLES SISNLVFTY
结构预测来自 AlphaFold DB（UniProt: Q06945），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

Gene Variants

Gene Variants

SNP variants of SOX4:           Showing partial SNPs
rs14256       rs14547       rs1051049       rs1052050       rs11413405       rs16885105       rs62404137       rs70993262       rs75042573       rs76104335       rs77177818       rs77742072       rs78415867       rs78965844       rs79753782       rs79958549       rs111640879      

Gene Expression

Gene Expression

Tissue expression of SOX4:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
GCAAGATCATGGAGCAGTC
58
GTCTTTGAGCAGCTTCCAG
58
CAAGATCATGGAGCAGTCG
58
TGTCTTTGAGCAGCTTCCA
59
CAAGATCATGGAGCAGTCG
58
GTCTTTGAGCAGCTTCCAG
58

Transcription Factors

Transcription Factors

Transcription Factors
Target Gene
Interaction Type
PubMed References
ERG
SOX4
Unknown
24435928
JUND
SOX4
Activation
23482931
SOX4
AGO1
Unknown
19147588
SOX4
AXIN2
Unknown
22098624
SOX4
DHX9
Unknown
19147588; 22098624
SOX4
DICER1
Unknown
22098624
SOX4
HDAC8
Activation
23482931
SOX4
KMT2A
Unknown
20019190
SOX4
NCAM1
Activation
20049565
SOX4
NKX3-1
Unknown
20019190

Gene Ontology

Subcellular localization of SOX4 (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 SOX4:

GO ID
Protein
Source DB
GO:0000976
Q06945 (UniProtKB)
ISS
GO:0001046
Q06945 (UniProtKB)
IDA
GO:0001071
Q06945 (UniProtKB)
IMP
GO:0001077
Q06945 (UniProtKB)
IDA
GO:0001105
Q06945 (UniProtKB)
ISS
GO:0001501
Q06945 (UniProtKB)
ISS
GO:0001841
Q06945 (UniProtKB)
ISS
GO:0002328
Q06945 (UniProtKB)
ISS
GO:0003183
Q06945 (UniProtKB)
ISS
GO:0003211
Q06945 (UniProtKB)
ISS
GO:0003215
Q06945 (UniProtKB)
ISS
GO:0003289
Q06945 (UniProtKB)
ISS
GO:0003357
Q06945 (UniProtKB)
ISS
GO:0003700
Q06945 (UniProtKB)
IDA
GO:0003700
Q06945 (UniProtKB)
IDA
GO:0005515
Q06945 (UniProtKB)
IPI
GO:0005515
Q06945 (UniProtKB)
IPI
GO:0005515
Q06945 (UniProtKB)
IPI
GO:0005515
Q06945 (UniProtKB)
IPI
GO:0005515
Q06945 (UniProtKB)
IPI
GO:0005634
Q06945 (UniProtKB)
IDA
GO:0005634
Q06945 (UniProtKB)
IDA
GO:0005634
Q06945 (UniProtKB)
IDA
GO:0005654
Q06945 (UniProtKB)
IDA
GO:0005654
Q06945 (UniProtKB)
TAS
GO:0005654
Q06945 (UniProtKB)
TAS
GO:0005737
Q06945 (UniProtKB)
IDA
GO:0005739
Q06945 (UniProtKB)
IDA
GO:0006355
Q06945 (UniProtKB)
IDA
GO:0006355
Q06945 (UniProtKB)
IDA
GO:0006366
Q06945 (UniProtKB)
IEA
GO:0006977
Q06945 (UniProtKB)
IMP
GO:0007507
Q06945 (UniProtKB)
ISS
GO:0008284
Q06945 (UniProtKB)
IMP
GO:0008285
Q06945 (UniProtKB)
IMP
GO:0014009
Q06945 (UniProtKB)
ISS
GO:0021510
Q06945 (UniProtKB)
ISS
GO:0021522
Q06945 (UniProtKB)
ISS
GO:0021782
Q06945 (UniProtKB)
ISS
GO:0030177
Q06945 (UniProtKB)
ISS
GO:0030217
Q06945 (UniProtKB)
ISS
GO:0031018
Q06945 (UniProtKB)
IEA
GO:0031397
Q06945 (UniProtKB)
IMP
GO:0031647
Q06945 (UniProtKB)
IMP
GO:0032024
Q06945 (UniProtKB)
ISS
GO:0035019
Q06945 (UniProtKB)
IEA
GO:0035910
Q06945 (UniProtKB)
ISS
GO:0042593
Q06945 (UniProtKB)
ISS
GO:0042769
Q06945 (UniProtKB)
IDA
GO:0043065
Q06945 (UniProtKB)
IMP
GO:0043065
Q06945 (UniProtKB)
IMP
GO:0044798
Q06945 (UniProtKB)
IEA
GO:0045727
Q06945 (UniProtKB)
IMP
GO:0045893
Q06945 (UniProtKB)
IDA
GO:0045893
Q06945 (UniProtKB)
IDA
GO:0045893
Q06945 (UniProtKB)
IMP
GO:0045944
Q06945 (UniProtKB)
IDA
GO:0045944
Q06945 (UniProtKB)
IMP
GO:0046826
Q06945 (UniProtKB)
IMP
GO:0046982
Q06945 (UniProtKB)
IEA
GO:0048485
Q06945 (UniProtKB)
ISS
GO:0050821
Q06945 (UniProtKB)
IMP
GO:0060070
Q06945 (UniProtKB)
ISS
GO:0060174
Q06945 (UniProtKB)
ISS
GO:0060412
Q06945 (UniProtKB)
ISS
GO:0060548
Q06945 (UniProtKB)
ISS
GO:0060563
Q06945 (UniProtKB)
ISS
GO:0060993
Q06945 (UniProtKB)
ISS
GO:0071333
Q06945 (UniProtKB)
ISS
GO:0090263
Q06945 (UniProtKB)
ISS
GO:2000761
Q06945 (UniProtKB)
IDA

Related microRNA

Related microRNA

microRNAs potentially regulating SOX4:     

Gene Interactions

Gene Interactions

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

Gene Pathways

Gene Pathways

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source
Adenoid Cystic Carcinoma 0.12272435 2 0 CTD_human_LHGDN
Liver Neoplasms, Experimental 0.12 1 0 CTD_human
Salivary Gland Neoplasms 0.12 1 0 CTD_human
Asphyxia 0.08 1 0 RGD
Neoplasm Metastasis 0.005438769 10 0 BeFree_LHGDN
Medulloblastoma 0.003538676 3 0 BeFree_LHGDN
Lung Neoplasms 0.003267234 3 0 BeFree_LHGDN
Bladder Neoplasm 0.003267234 2 0 BeFree_LHGDN
Colorectal Neoplasms 0.00272435 1 0 LHGDN
Carcinogenesis 0.002442977 9 0 BeFree

Related Publications

Related Publications

Transcriptional landscape of CD4+ T cells in Systemic Sclerosis.
Villanueva-Martin G, Borrego-Yaniz G, Acosta-Herrera M, Callejas-Rubio JL, Ortego N, Mages N, Börno S, Gutierrez-Arcelus M, Martin J, Bossini-Castillo L bioRxiv 2026-03-19
Aging restricts maturation of CXCL13+ T follicular helper cells in human immunity.
Bracey NA, Beppler C, Bilich T, Long AH, Sola E, Barak A, Few-Cooper TJ, Mohsin A, Shankar V, Mallajosyula V, Kamalyan L, Capasso R, Shen-Orr SS, Davis MM bioRxiv 2026-04-07
SOX4 is a transcriptional activator for CTHRC1 in lung fibroblast activation.
Huang Y, Wu L, Feng D, Zhang C, Zhuang L, Jin R, Zhou G Gene IF: 2.7 2026-07-10
MYC-induced USP10 stabilizes SOX4 to promote thymocyte proliferation and leukemia onset in mice.
Zhang M, Wu H, Lin X, Zhao F, Deng Q, Lu L, Li X, Chen X, Liu H, Love PE, Huang J, Zhao B Nat Commun IF: 12.124 2026-04-02
Elucidating the roles of microRNA-103a-3p in trophoblast invasion and SOX4-mediated extravillous differentiation induced by activin A.
Xie J, Shannon MJ, Zhu H, Dong M, Beristain AG, Leung PCK Cell Death Dis IF: 12.2 2026-04-10
Single-Cell RNA Sequencing Reveals the Role of Macrophage-Granulosa Cell Crosstalk in Regulating Granulosa Cells Function in Sheep.
Zhang C, Yan C, Wei W, Dong T, Jitjumnong J, Yang H, Zhang Y FASEB J IF: 4.3 2026-03-31
Knockdown of SOX4 attenuates sepsis myocardial injury by inhibiting the EZH2/H3K27me3/SOCS3 axis.
Zhao H, Tao W, Huang R, Cao J, Xu C Mamm Genome IF: 2.6 2026-03-09
Bovine colostrum exosomes mediate anti-inflammatory responses in macrophages via the miR-30a-5p/SOX4 axis.
Yang M, Xu H, Liang Q, Wu Y, Zhang W, Nie C, Kurmanglievna BL, Toksanbaevich ZK, Kulatayev BT, Andersson G, Bongcam-Rudloff E, Rouzi M, Han J J Dairy Sci IF: 4.7 2026-05-00

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