HMGA2 (high mobility group AT-hook 2)

基因基本信息

基因基本信息

symbol:
HMGA2
locus group:
protein-coding gene
location:
12q14.3
gene_family:
Canonical high mobility group
alias symbol:
BABL|LIPO
alias name:
None
entrez id:
8091
ensembl gene id:
ENSG00000149948
ucsc gene id:
uc001ssx.4
refseq accession:
NM_003483
hgnc_id:
HGNC:5009
approved reserved:
1998-10-23

基因染色体位置

基因染色体位置

12q14.3
基因染色体位置图

基因简述

基因简述

HMGA2（High Mobility Group AT-hook 2）是一种非组蛋白染色质结合蛋白，属于高迁移率族蛋白（HMGA）基因家族。该家族成员（包括HMGA1和HMGA2）的共同特点是含有多个AT-hook结构域，这些结构域能特异性结合富含AT碱基对的DNA小沟，从而调节染色质结构和基因表达。HMGA蛋白不直接激活或抑制转录，而是通过改变DNA构象或作为"转录增强子"与其他转录因子相互作用来调控基因表达。HMGA2在胚胎发育中起关键作用，特别是在脂肪组织形成、身高发育和大脑发育过程中。该基因的主要作用位点包括间充质干细胞和多种前体细胞。HMGA2突变或表达异常与多种疾病相关，例如12号染色体上的HMGA2重排会导致脂肪瘤，而某些点突变与身高异常（如巨人症或矮小症）相关。HMGA2过表达常见于多种恶性肿瘤（如肺癌、乳腺癌、胰腺癌等），通过促进上皮-间质转化（EMT）和干细胞特性来驱动肿瘤侵袭和转移。相反，HMGA2表达降低会导致生长迟缓和脂肪代谢异常。在分子水平上，HMGA2通过调控细胞周期蛋白（如Cyclin A和Cyclin E）和抑制Rb蛋白来促进细胞增殖。此外，HMGA2还参与调控let-7 microRNA家族，形成双向调控网络：HMGA2是let-7的靶基因，而let-7又能抑制HMGA2表达。这种调控关系在干细胞维持和肿瘤发生中尤为重要。HMGA2还与Wnt/β-catenin和TGF-β信号通路相互作用，影响细胞命运决定。在临床方面，HMGA2表达水平可作为某些癌症的预后标志物，其过表达通常预示不良预后。值得注意的是，HMGA2在成人正常组织中表达很低，但在多种肿瘤中重新激活，这使其成为潜在的抗癌治疗靶点。

This gene encodes a protein that belongs to the non-histone chromosomal high mobility group (HMG) protein family. HMG proteins function as architectural factors and are essential components of the enhancesome. This protein contains structural DNA-binding domains and may act as a transcriptional regulating factor. Identification of the deletion, amplification, and rearrangement of this gene that are associated with myxoid liposarcoma suggests a role in adipogenesis and mesenchymal differentiation. A gene knock out study of the mouse counterpart demonstrated that this gene is involved in diet-induced obesity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

这个基因编码属于非组蛋白染色体高迁移率组（HMG）蛋白家族的蛋白。 HMG蛋白质充当建筑的因素和是enhancesome的重要组成部分。此蛋白含有结构DNA结合结构域和可作为转录调控因子起作用。的缺失，扩增，和与粘液样脂肪肉瘤相关该基因的重排的鉴定表明在脂肪生成和间质分化的作用。基因敲除小鼠对应的研究表明，该基因参与饮食引起的肥胖。备用转录剪接变体，编码不同同种型，已经表征。 [由RefSeq的，2008年7月提供]

OMIM数据库中对HMGA2基因的介绍     Wikipedia数据库中对HMGA2基因的介绍

基因序列

基因序列

HMGA2基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

HMGA2基因的碱基突变：           仅显示部分snp
rs1705       rs8756       rs168220       rs168221       rs189339       rs343086       rs343087       rs343088       rs343089       rs343090       rs343091       rs343092       rs343093       rs343094       rs732198       rs867633       rs883605      

基因表达

基因表达

HMGA2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
GAGTCCCTCTAAAGCAGCT
59
CTTGTTGTGGCCATTTCCT
59
AGTCCCTCTAAAGCAGCTC
59
TCATTAGCAACCACCATTTCC
59
AAAGAAAGCAGAAGCCACTG
59
TCAGTTTCCTCCTGAGCAG
59
AAAGAAAGCAGAAGCCACTG
59
GCAACATTGACCTGAGCAG
60
CCTCATCTCCCGAAAGGTG
60
GTCTCTTAGGAGAGGGCTC
58
AGTCCCTCTAAAGCAGCTC
59
TCATTAGCAACCACCATTTCC
59
AGTCCCTCTAAAGCAGCTC
59
GTAGATTGTCCCATTTCCTAGGT
60
AGTCCCTCTAAAGCAGCTC
59
TTCAGTTTCCTCCTGAGCAG
60
AGTCCCTCTAAAGCAGCTC
59
GAGCTCTTAACCATTTCCTAGG
58
AGTCCCTCTAAAGCAGCTC
59
AGTTCTGTAGCCATTTCCTAGG
60

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）
BRCA1
HMGA2
Repression
20007691
HMGA2
CDH1
Activation
19179606
HMGA2
COL11A2
Activation
16375854
HMGA2
IGF2BP2
Unknown
17426251; 22513850
HMGA2
POU1F1
Activation
22199144
HMGA2
SNAI1
Unknown
22241470
SP1
HMGA2
Unknown
11802722
SP3
HMGA2
Unknown
11802722
ZNF350
HMGA2
Repression
20007691
ZNF382
HMGA2
Repression
20682794

基因本体信息

HMGA2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

HMGA2基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0000785
F5H2A4 (UniProtKB)
IEA
GO:0003677
F5H2A4 (UniProtKB)
IEA
GO:0005654
F5H2A4 (UniProtKB)
IDA
GO:0006355
F5H2A4 (UniProtKB)
IEA
GO:0000785
F5H2U8 (UniProtKB)
IEA
GO:0003677
F5H2U8 (UniProtKB)
IEA
GO:0005654
F5H2U8 (UniProtKB)
IDA
GO:0006355
F5H2U8 (UniProtKB)
IEA
GO:0000122
F5H6H0 (UniProtKB)
IEA
GO:0000228
F5H6H0 (UniProtKB)
IEA
GO:0000785
F5H6H0 (UniProtKB)
IEA
GO:0001077
F5H6H0 (UniProtKB)
IEA
GO:0003680
F5H6H0 (UniProtKB)
IEA
GO:0005654
F5H6H0 (UniProtKB)
IDA
GO:0006366
F5H6H0 (UniProtKB)
IEA
GO:0007165
F5H6H0 (UniProtKB)
IEA
GO:0007283
F5H6H0 (UniProtKB)
IEA
GO:0008584
F5H6H0 (UniProtKB)
IEA
GO:0010564
F5H6H0 (UniProtKB)
IEA
GO:0019899
F5H6H0 (UniProtKB)
IEA
GO:0021846
F5H6H0 (UniProtKB)
IEA
GO:0021983
F5H6H0 (UniProtKB)
IEA
GO:0030325
F5H6H0 (UniProtKB)
IEA
GO:0033144
F5H6H0 (UniProtKB)
IEA
GO:0035019
F5H6H0 (UniProtKB)
IEA
GO:0040018
F5H6H0 (UniProtKB)
IEA
GO:0045944
F5H6H0 (UniProtKB)
IEA
GO:0046426
F5H6H0 (UniProtKB)
IEA
GO:0048712
F5H6H0 (UniProtKB)
IEA
GO:0051091
F5H6H0 (UniProtKB)
IEA
GO:0060123
F5H6H0 (UniProtKB)
IEA
GO:0060613
F5H6H0 (UniProtKB)
IEA
GO:2000648
F5H6H0 (UniProtKB)
IEA
GO:0000785
H0YFY4 (UniProtKB)
IEA
GO:0003677
H0YFY4 (UniProtKB)
IEA
GO:0005634
H0YFY4 (UniProtKB)
IEA
GO:0006355
H0YFY4 (UniProtKB)
IEA
GO:0000122
P52926 (UniProtKB)
IDA
GO:0000228
P52926 (UniProtKB)
ISS
GO:0000975
P52926 (UniProtKB)
IDA
GO:0001047
P52926 (UniProtKB)
IDA
GO:0001077
P52926 (UniProtKB)
IDA
GO:0001078
P52926 (UniProtKB)
IDA
GO:0001837
P52926 (UniProtKB)
IMP
GO:0002062
P52926 (UniProtKB)
IDA
GO:0003131
P52926 (UniProtKB)
IMP
GO:0003677
P52926 (UniProtKB)
NAS
GO:0003680
P52926 (UniProtKB)
IDA
GO:0003680
P52926 (UniProtKB)
IDA
GO:0003680
P52926 (UniProtKB)
IDA
GO:0003680
P52926 (UniProtKB)
IMP
GO:0003680
P52926 (UniProtKB)
IDA
GO:0003680
P52926 (UniProtKB)
IDA
GO:0003906
P52926 (UniProtKB)
IDA
GO:0004677
P52926 (UniProtKB)
IDA
GO:0005515
P52926 (UniProtKB)
IPI
GO:0005515
P52926 (UniProtKB)
IPI
GO:0005515
P52926 (UniProtKB)
IPI
GO:0005634
P52926 (UniProtKB)
IDA
GO:0005634
P52926 (UniProtKB)
IDA
GO:0005634
P52926 (UniProtKB)
IDA
GO:0005634
P52926 (UniProtKB)
IDA
GO:0005654
P52926 (UniProtKB)
IDA
GO:0005654
P52926 (UniProtKB)
TAS
GO:0006284
P52926 (UniProtKB)
IDA
GO:0006325
P52926 (UniProtKB)
TAS
GO:0006355
P52926 (UniProtKB)
IMP
GO:0006366
P52926 (UniProtKB)
IEA
GO:0007067
P52926 (UniProtKB)
IEA
GO:0007095
P52926 (UniProtKB)
IDA
GO:0007275
P52926 (UniProtKB)
TAS
GO:0008134
P52926 (UniProtKB)
IPI
GO:0008301
P52926 (UniProtKB)
IMP
GO:0008301
P52926 (UniProtKB)
IDA
GO:0009615
P52926 (UniProtKB)
IEP
GO:0010564
P52926 (UniProtKB)
IDA
GO:0010628
P52926 (UniProtKB)
IDA
GO:0030261
P52926 (UniProtKB)
IEA
GO:0031052
P52926 (UniProtKB)
IDA
GO:0031492
P52926 (UniProtKB)
IDA
GO:0031507
P52926 (UniProtKB)
IDA
GO:0032993
P52926 (UniProtKB)
IDA
GO:0035497
P52926 (UniProtKB)
IDA
GO:0035500
P52926 (UniProtKB)
IDA
GO:0035501
P52926 (UniProtKB)
IDA
GO:0035978
P52926 (UniProtKB)
IDA
GO:0035985
P52926 (UniProtKB)
IDA
GO:0035986
P52926 (UniProtKB)
IDA
GO:0035987
P52926 (UniProtKB)
IMP
GO:0035988
P52926 (UniProtKB)
IDA
GO:0040008
P52926 (UniProtKB)
IEA
GO:0042769
P52926 (UniProtKB)
IDA
GO:0043065
P52926 (UniProtKB)
IDA
GO:0043066
P52926 (UniProtKB)
IDA
GO:0043392
P52926 (UniProtKB)
IDA
GO:0043922
P52926 (UniProtKB)
IDA
GO:0045444
P52926 (UniProtKB)
IMP
GO:0045444
P52926 (UniProtKB)
IMP
GO:0045869
P52926 (UniProtKB)
IDA
GO:0045892
P52926 (UniProtKB)
IMP
GO:0045892
P52926 (UniProtKB)
IDA
GO:0045893
P52926 (UniProtKB)
IDA
GO:0045893
P52926 (UniProtKB)
IDA
GO:0045893
P52926 (UniProtKB)
IDA
GO:0045893
P52926 (UniProtKB)
IDA
GO:0045893
P52926 (UniProtKB)
IDA
GO:0045893
P52926 (UniProtKB)
IMP
GO:0045944
P52926 (UniProtKB)
IDA
GO:0045944
P52926 (UniProtKB)
IDA
GO:0046332
P52926 (UniProtKB)
IPI
GO:0046332
P52926 (UniProtKB)
IPI
GO:0046332
P52926 (UniProtKB)
IPI
GO:0048333
P52926 (UniProtKB)
IMP
GO:0048762
P52926 (UniProtKB)
IMP
GO:0048762
P52926 (UniProtKB)
IMP
GO:0048863
P52926 (UniProtKB)
IEP
GO:0051301
P52926 (UniProtKB)
IEA
GO:0051575
P52926 (UniProtKB)
IDA
GO:0070742
P52926 (UniProtKB)
IMP
GO:0071141
P52926 (UniProtKB)
IDA
GO:0071158
P52926 (UniProtKB)
IDA
GO:0090402
P52926 (UniProtKB)
IDA
GO:2000036
P52926 (UniProtKB)
IMP
GO:2000036
P52926 (UniProtKB)
TAS
GO:2000648
P52926 (UniProtKB)
IMP
GO:2000648
P52926 (UniProtKB)
IDA
GO:2000679
P52926 (UniProtKB)
IDA
GO:2000685
P52926 (UniProtKB)
IDA
GO:2000774
P52926 (UniProtKB)
IMP
GO:2001022
P52926 (UniProtKB)
IDA
GO:2001022
P52926 (UniProtKB)
IDA
GO:2001033
P52926 (UniProtKB)
IDA
GO:2001038
P52926 (UniProtKB)
IDA
GO:0000989
P52926 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 HMGA2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
Lipomatosis, Multiple 0.123528744 13 0 BeFree_CTD_human
Liposarcoma, Dedifferentiated 0.120814326 3 0 BeFree_ORPHANET
Liposarcoma, well differentiated 0.120542884 2 0 BeFree_ORPHANET
Diabetes Mellitus, Non-Insulin-Dependent 0.120542884 3 1 BeFree_GWASCAT
Polycystic Ovary Syndrome 0.12 1 1 GWASCAT
Infant length 0.12 1 1 GWASCAT
Birth length 0.12 1 1 GWASCAT
Birth Weight 0.12 1 0 CTD_human
Lipoma 0.015472187 57 0 BeFree
Fibroid Tumor 0.014591848 36 0 BeFree_GAD_LHGDN

基因相关服务

基因相关服务

联系方式

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