SOX9 (SRY-box transcription factor 9)

基因基本信息

基因基本信息

symbol:
SOX9
locus group:
protein-coding gene
location:
17q24.3
gene_family:
SRY (sex determining region Y)-boxes
alias symbol:
SRA1
alias name:
None
entrez id:
6662
ensembl gene id:
ENSG00000125398
ucsc gene id:
uc002jiw.4
refseq accession:
NM_000346
hgnc_id:
HGNC:11204
approved reserved:
1992-09-25

基因染色体位置

基因染色体位置

17q24.3
基因染色体位置图

基因简述

基因简述

SOX9（SRY-box transcription factor 9）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HMG结构域（high-mobility group domain），能够结合DNA并调控靶基因表达。SOX9在胚胎发育中起核心作用，尤其在性别决定、软骨形成（chondrogenesis）、神经嵴细胞分化及多种器官发育中不可或缺。在性别决定中，SOX9是睾丸发育的关键调控因子，能激活其他雄性相关基因（如AMH），若其功能丧失会导致性反转（46,XY女性）。在软骨形成中，SOX9直接调控Ⅱ型胶原（COL2A1）等软骨基质基因的表达，其突变可引发颅面畸形或骨骼疾病如 campomelic dysplasia（一种致死性骨骼发育异常伴性反转的综合征）。SOX9还与多种疾病相关，例如在前列腺癌、胃癌中过表达可能促进肿瘤侵袭，而在结肠癌中其表达降低可能影响细胞分化。若SOX9过表达，可能异常激活下游成骨或软骨分化通路，导致异位骨化或肿瘤发生；若表达不足则可能引发骨骼发育障碍或性腺功能异常。SOX基因家族的共性是通过HMG结构域弯曲DNA以调控发育相关基因，成员间功能部分冗余但各有特异性。例如SOX2与干细胞多能性相关，而SOX10影响神经嵴衍生物分化。SOX9的调控异常或突变可能通过破坏细胞命运决定或组织稳态导致广泛发育缺陷或疾病。

The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq, Jul 2008]

由该基因编码的蛋白质识别与HMG-框类DNA结合蛋白的其他成员一起序列CCTTGAG。它软骨细胞分化过程中的作用，并与类固醇生成因子1，调节抗Muellerian激素（AMH）基因的转录。不足导致骨骼畸形综合征campomelic发育不良，经常与性反转。 [由RefSeq的，2008年7月提供]

OMIM数据库中对SOX9基因的介绍     Wikipedia数据库中对SOX9基因的介绍

基因序列

基因序列

SOX9基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

SOX9基因的碱基突变：           仅显示部分snp
rs3837814       rs5821897       rs11555395       rs12601701       rs35126550       rs35756046       rs56823290       rs76599188       rs76703130       rs79558852       rs111264561       rs112088991       rs112593393       rs113434276       rs115615437       rs116516023       rs116826102      

基因表达

基因表达

SOX9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
CTCTGGAGACTTCTGAACG
57
TACTTGTAATCCGGGTGGT
58
CTCTGGAGACTTCTGAACGA
59
TACTTGTAATCCGGGTGGTC
59
CTCTGGAGACTTCTGAACGA
59
ACTTGTAATCCGGGTGGTC
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）
CEBPZ
SOX9
Unknown
15908194
CREB1
SOX9
Unknown
17289023
GLI1
SOX9
Unknown
17409199
SF1
SOX9
Unknown
21412441
SOX9
AMH
Activation
11097782
SOX9
AMH
Unknown
9774680
SOX9
AR
Activation
17234760
SOX9
BEST1
Activation
20530484
SOX9
CDK4
Activation
20651055
SOX9
CDK4
Repression
20651055

基因本体信息

SOX9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

SOX9基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0000122
P48436 (UniProtKB)
IEA
GO:0001046
P48436 (UniProtKB)
IDA
GO:0001077
P48436 (UniProtKB)
IDA
GO:0001077
P48436 (UniProtKB)
IDA
GO:0001077
P48436 (UniProtKB)
IDA
GO:0001158
P48436 (UniProtKB)
ISS
GO:0001501
P48436 (UniProtKB)
IMP
GO:0001502
P48436 (UniProtKB)
ISS
GO:0001503
P48436 (UniProtKB)
IEA
GO:0001658
P48436 (UniProtKB)
IEA
GO:0001708
P48436 (UniProtKB)
ISS
GO:0001837
P48436 (UniProtKB)
ISS
GO:0001894
P48436 (UniProtKB)
ISS
GO:0001934
P48436 (UniProtKB)
ISS
GO:0001942
P48436 (UniProtKB)
ISS
GO:0002053
P48436 (UniProtKB)
ISS
GO:0002683
P48436 (UniProtKB)
ISS
GO:0003170
P48436 (UniProtKB)
ISS
GO:0003179
P48436 (UniProtKB)
ISS
GO:0003188
P48436 (UniProtKB)
IEA
GO:0003203
P48436 (UniProtKB)
ISS
GO:0003413
P48436 (UniProtKB)
IMP
GO:0003415
P48436 (UniProtKB)
ISS
GO:0003682
P48436 (UniProtKB)
IDA
GO:0003700
P48436 (UniProtKB)
IDA
GO:0003700
P48436 (UniProtKB)
IMP
GO:0003705
P48436 (UniProtKB)
IDA
GO:0003705
P48436 (UniProtKB)
IDA
GO:0004672
P48436 (UniProtKB)
ISS
GO:0005515
P48436 (UniProtKB)
IPI
GO:0005515
P48436 (UniProtKB)
IPI
GO:0005634
P48436 (UniProtKB)
IDA
GO:0005634
P48436 (UniProtKB)
IDA
GO:0005634
P48436 (UniProtKB)
IDA
GO:0005634
P48436 (UniProtKB)
IDA
GO:0005654
P48436 (UniProtKB)
IDA
GO:0005654
P48436 (UniProtKB)
TAS
GO:0006334
P48436 (UniProtKB)
IDA
GO:0006338
P48436 (UniProtKB)
IDA
GO:0006366
P48436 (UniProtKB)
IEA
GO:0006366
P48436 (UniProtKB)
IEA
GO:0006461
P48436 (UniProtKB)
IDA
GO:0007010
P48436 (UniProtKB)
IEA
GO:0007165
P48436 (UniProtKB)
ISS
GO:0007173
P48436 (UniProtKB)
ISS
GO:0007219
P48436 (UniProtKB)
IEA
GO:0007283
P48436 (UniProtKB)
ISS
GO:0008013
P48436 (UniProtKB)
IEA
GO:0008284
P48436 (UniProtKB)
IMP
GO:0008584
P48436 (UniProtKB)
IEP
GO:0008584
P48436 (UniProtKB)
IMP
GO:0010564
P48436 (UniProtKB)
IMP
GO:0010634
P48436 (UniProtKB)
IMP
GO:0014032
P48436 (UniProtKB)
IEA
GO:0014068
P48436 (UniProtKB)
ISS
GO:0016337
P48436 (UniProtKB)
IEA
GO:0019100
P48436 (UniProtKB)
ISS
GO:0019933
P48436 (UniProtKB)
IDA
GO:0030155
P48436 (UniProtKB)
IEA
GO:0030198
P48436 (UniProtKB)
IEA
GO:0030279
P48436 (UniProtKB)
ISS
GO:0030502
P48436 (UniProtKB)
IEA
GO:0030850
P48436 (UniProtKB)
IEP
GO:0030857
P48436 (UniProtKB)
IEA
GO:0030858
P48436 (UniProtKB)
ISS
GO:0030879
P48436 (UniProtKB)
IEA
GO:0030903
P48436 (UniProtKB)
IEA
GO:0030916
P48436 (UniProtKB)
ISS
GO:0031018
P48436 (UniProtKB)
IEA
GO:0032331
P48436 (UniProtKB)
ISS
GO:0032332
P48436 (UniProtKB)
IMP
GO:0032332
P48436 (UniProtKB)
IDA
GO:0034236
P48436 (UniProtKB)
IPI
GO:0034504
P48436 (UniProtKB)
IEA
GO:0035019
P48436 (UniProtKB)
ISS
GO:0035326
P48436 (UniProtKB)
IDA
GO:0035622
P48436 (UniProtKB)
IEA
GO:0042127
P48436 (UniProtKB)
ISS
GO:0042981
P48436 (UniProtKB)
ISS
GO:0043066
P48436 (UniProtKB)
ISS
GO:0043066
P48436 (UniProtKB)
IMP
GO:0043234
P48436 (UniProtKB)
IDA
GO:0043425
P48436 (UniProtKB)
IEA
GO:0043491
P48436 (UniProtKB)
IEA
GO:0044798
P48436 (UniProtKB)
IEA
GO:0045662
P48436 (UniProtKB)
ISS
GO:0045732
P48436 (UniProtKB)
IEA
GO:0045892
P48436 (UniProtKB)
IMP
GO:0045893
P48436 (UniProtKB)
IDA
GO:0045893
P48436 (UniProtKB)
IMP
GO:0045944
P48436 (UniProtKB)
IDA
GO:0045944
P48436 (UniProtKB)
IDA
GO:0046533
P48436 (UniProtKB)
ISS
GO:0046982
P48436 (UniProtKB)
IEA
GO:0048709
P48436 (UniProtKB)
IEA
GO:0050679
P48436 (UniProtKB)
ISS
GO:0050679
P48436 (UniProtKB)
IEP
GO:0050680
P48436 (UniProtKB)
ISS
GO:0051216
P48436 (UniProtKB)
ISS
GO:0060008
P48436 (UniProtKB)
ISS
GO:0060009
P48436 (UniProtKB)
IEA
GO:0060009
P48436 (UniProtKB)
IEA
GO:0060018
P48436 (UniProtKB)
IEA
GO:0060041
P48436 (UniProtKB)
ISS
GO:0060174
P48436 (UniProtKB)
IEA
GO:0060221
P48436 (UniProtKB)
ISS
GO:0060441
P48436 (UniProtKB)
IEA
GO:0060487
P48436 (UniProtKB)
IEA
GO:0060517
P48436 (UniProtKB)
ISS
GO:0060532
P48436 (UniProtKB)
IEA
GO:0060534
P48436 (UniProtKB)
IEA
GO:0060729
P48436 (UniProtKB)
ISS
GO:0060784
P48436 (UniProtKB)
ISS
GO:0061036
P48436 (UniProtKB)
IDA
GO:0061046
P48436 (UniProtKB)
IEA
GO:0061138
P48436 (UniProtKB)
ISS
GO:0061145
P48436 (UniProtKB)
IEA
GO:0070168
P48436 (UniProtKB)
ISS
GO:0070371
P48436 (UniProtKB)
ISS
GO:0070384
P48436 (UniProtKB)
IEA
GO:0071260
P48436 (UniProtKB)
ISS
GO:0071300
P48436 (UniProtKB)
IEP
GO:0071347
P48436 (UniProtKB)
IEP
GO:0071364
P48436 (UniProtKB)
ISS
GO:0071504
P48436 (UniProtKB)
ISS
GO:0071560
P48436 (UniProtKB)
IDA
GO:0072034
P48436 (UniProtKB)
ISS
GO:0072190
P48436 (UniProtKB)
IEA
GO:0072193
P48436 (UniProtKB)
IEA
GO:0072197
P48436 (UniProtKB)
IEA
GO:0072289
P48436 (UniProtKB)
ISS
GO:0090090
P48436 (UniProtKB)
ISS
GO:0090103
P48436 (UniProtKB)
ISS
GO:0090184
P48436 (UniProtKB)
ISS
GO:0090190
P48436 (UniProtKB)
ISS
GO:0097157
P48436 (UniProtKB)
IEA
GO:1901203
P48436 (UniProtKB)
IEA
GO:2000020
P48436 (UniProtKB)
IDA
GO:2000138
P48436 (UniProtKB)
IEA
GO:2000741
P48436 (UniProtKB)
IDA
GO:2000794
P48436 (UniProtKB)
IEA
GO:2001054
P48436 (UniProtKB)
IEA

基因相关microRNA

基因相关microRNA

可能调控 SOX9基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

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
CAMPOMELIC DYSPLASIA 0.578467979 63 4 BeFree_CLINVAR_CTD_human_LHGDN_MGD_ORPHANET_UNIPROT
Pierre Robin Syndrome 0.242442977 9 0 BeFree_CTD_human_ORPHANET
Acampomelic Campomelic Dysplasia 0.121628651 6 3 BeFree_CLINVAR
46, XX Testicular Disorders of Sex Development 0.121357209 5 0 BeFree_ORPHANET
Ovotesticular Disorders of Sex Development 0.120542884 2 0 BeFree_ORPHANET
XX males 0.120542884 2 0 BeFree_ORPHANET
Swyer Syndrome 0.120271442 1 0 BeFree_ORPHANET
CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL 0.120271442 1 3 BeFree_CLINVAR
Craniofacial Abnormalities 0.120271442 2 0 BeFree_CTD_human
Animal Mammary Neoplasms 0.12 1 0 CTD_human

基因相关服务

基因相关服务

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