HNF4A (hepatocyte nuclear factor 4 alpha)

基因基本信息

基因基本信息

symbol:
HNF4A
locus group:
protein-coding gene
location:
20q13.12
gene_family:
Nuclear hormone receptors
alias symbol:
NR2A1|HNF4
alias name:
None
entrez id:
3172
ensembl gene id:
ENSG00000101076
ucsc gene id:
uc002xlt.4
refseq accession:
NM_000457
hgnc_id:
HGNC:5024
approved reserved:
1998-04-20

基因染色体位置

基因染色体位置

20q13.12
基因染色体位置图

基因简述

基因简述

HNF4A（肝细胞核因子4α）是一种重要的转录因子，属于核受体超家族中的HNF4亚家族，该家族还包括HNF4G等成员，它们共同特点是能够通过结合DNA调控下游基因的表达，尤其在肝脏、胰腺、肠道和肾脏等组织中发挥关键作用。HNF4A的主要功能是调控与代谢相关的基因表达，包括葡萄糖、脂类和胆固醇代谢，以及胆汁酸合成等过程。它通过结合特定DNA序列（DR1元件）激活或抑制靶基因的转录，对维持肝脏分化和功能至关重要。HNF4A的突变与多种疾病相关，最突出的是MODY1（青少年发病的成人型糖尿病1型），这种突变会导致胰岛素分泌缺陷和血糖调控异常。此外，HNF4A的异常表达还与肝癌、炎症性肠病和某些肾脏疾病有关。如果HNF4A过表达，可能增强代谢相关基因的活性，导致代谢紊乱或异常细胞增殖；而降低表达则可能引发肝功能异常、糖代谢失调或胆汁淤积等问题。HNF4A还与其他转录因子如HNF1A和PPARα存在相互作用，共同调控代谢网络。该基因在胚胎发育中也起重要作用，敲除小鼠模型显示HNF4A缺失会导致胚胎致死或严重的肝脏发育缺陷。HNF4基因家族的成员均含有高度保守的DNA结合域和配体结合域，尽管它们不依赖外源配体激活，但可以通过翻译后修饰（如磷酸化和乙酰化）调节其活性。研究HNF4A不仅有助于理解代谢疾病的机制，也为开发相关治疗策略提供潜在靶点。

None

无

OMIM数据库中对HNF4A基因的介绍     Wikipedia数据库中对HNF4A基因的介绍

基因序列

基因序列

HNF4A基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

HNF4A基因的碱基突变：           仅显示部分snp
rs717247       rs717248       rs2425633       rs2425634       rs2425635       rs2425636       rs2425637       rs3092370       rs4364072       rs4812831       rs5841553       rs5841554       rs6017334       rs6017335       rs6017336       rs6017338       rs6031568      

基因表达

基因表达

HNF4A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
TACTCCTGCAGATTTAGCCG
60
AAGCATTTCTTGAGCCTGC
59
GAGTTCTTACGACACGTCC
58
GTACATGTGGTTCTTCCGC
59
CTTCTTTGACCCAGATGCC
59
GTAGTCCTCCAAGCTCACC
60
GAGTTCTTACGACACGTCC
58
GTACATGTGGTTCTTCCGC
59
GTTCTCCACAGGGAGACAC
60
AGGAGTACATGTGGTTCTTCC
60
CTTCTTTGACCCAGATGCC
59
GTAGTCCTCCAAGCTCACC
60
CTTCTTTGACCCAGATGCC
59
GTAGTCCTCCAAGCTCACC
60
TACTCCTGCAGATTTAGCCG
59
AAGCATTTCTTGAGCCTGC
59
GAGTTCTTACGACACGTCC
58
GTACATGTGGTTCTTCCGC
59
CTTCTTTGACCCAGATGCC
59
GTAGTCCTCCAAGCTCACC
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）
HHEX
HNF4A
Activation
22068426
HNF4A
ABCC6
Unknown
20463007
HNF4A
ABCG5
Repression
21123766
HNF4A
ABCG8
Repression
21123766
HNF4A
ACAT2
Unknown
19478207
HNF4A
AFP
Activation
9792724
HNF4A
AKR1C4
Unknown
11284743
HNF4A
APOA1
Unknown
7961760
HNF4A
APOA2
Unknown
1639815
HNF4A
APOB
Unknown
1639815

基因本体信息

HNF4A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

HNF4A基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0003707
A0A087WXV4 (UniProtKB)
IEA
GO:0004879
A0A087WXV4 (UniProtKB)
IEA
GO:0005634
A0A087WXV4 (UniProtKB)
IEA
GO:0006351
A0A087WXV4 (UniProtKB)
IEA
GO:0006355
A0A087WXV4 (UniProtKB)
IEA
GO:0008270
A0A087WXV4 (UniProtKB)
IEA
GO:0030522
A0A087WXV4 (UniProtKB)
IEA
GO:0043401
A0A087WXV4 (UniProtKB)
IEA
GO:0043565
A0A087WXV4 (UniProtKB)
IEA
GO:0000062
P41235 (UniProtKB)
IEA
GO:0000979
P41235 (UniProtKB)
IEA
GO:0001077
P41235 (UniProtKB)
ISS
GO:0001102
P41235 (UniProtKB)
ISS
GO:0003677
P41235 (UniProtKB)
IDA
GO:0003677
P41235 (UniProtKB)
IDA
GO:0003700
P41235 (UniProtKB)
IDA
GO:0003700
P41235 (UniProtKB)
IDA
GO:0003700
P41235 (UniProtKB)
IDA
GO:0003700
P41235 (UniProtKB)
IDA
GO:0003705
P41235 (UniProtKB)
IEA
GO:0003707
P41235 (UniProtKB)
IEA
GO:0004879
P41235 (UniProtKB)
IEA
GO:0005102
P41235 (UniProtKB)
IDA
GO:0005504
P41235 (UniProtKB)
IDA
GO:0005515
P41235 (UniProtKB)
IPI
GO:0005515
P41235 (UniProtKB)
IPI
GO:0005515
P41235 (UniProtKB)
IPI
GO:0005515
P41235 (UniProtKB)
IPI
GO:0005515
P41235 (UniProtKB)
IPI
GO:0005515
P41235 (UniProtKB)
IPI
GO:0005515
P41235 (UniProtKB)
IPI
GO:0005515
P41235 (UniProtKB)
IPI
GO:0005515
P41235 (UniProtKB)
IPI
GO:0005515
P41235 (UniProtKB)
IPI
GO:0005634
P41235 (UniProtKB)
IDA
GO:0005634
P41235 (UniProtKB)
IDA
GO:0005634
P41235 (UniProtKB)
IDA
GO:0005654
P41235 (UniProtKB)
TAS
GO:0005667
P41235 (UniProtKB)
IEA
GO:0005737
P41235 (UniProtKB)
IDA
GO:0006357
P41235 (UniProtKB)
IDA
GO:0006357
P41235 (UniProtKB)
IDA
GO:0006357
P41235 (UniProtKB)
IMP
GO:0006367
P41235 (UniProtKB)
TAS
GO:0006591
P41235 (UniProtKB)
IMP
GO:0006629
P41235 (UniProtKB)
IEA
GO:0006637
P41235 (UniProtKB)
IEA
GO:0006805
P41235 (UniProtKB)
IMP
GO:0007164
P41235 (UniProtKB)
IEA
GO:0007548
P41235 (UniProtKB)
IEA
GO:0007596
P41235 (UniProtKB)
IDA
GO:0008270
P41235 (UniProtKB)
IEA
GO:0008285
P41235 (UniProtKB)
IMP
GO:0009749
P41235 (UniProtKB)
ISS
GO:0010470
P41235 (UniProtKB)
IEA
GO:0016290
P41235 (UniProtKB)
IEA
GO:0019216
P41235 (UniProtKB)
IDA
GO:0023019
P41235 (UniProtKB)
IEA
GO:0030154
P41235 (UniProtKB)
IEA
GO:0030308
P41235 (UniProtKB)
IMP
GO:0030522
P41235 (UniProtKB)
IEA
GO:0032534
P41235 (UniProtKB)
IEA
GO:0033159
P41235 (UniProtKB)
IEA
GO:0042493
P41235 (UniProtKB)
IEA
GO:0042524
P41235 (UniProtKB)
IEA
GO:0042593
P41235 (UniProtKB)
ISS
GO:0042803
P41235 (UniProtKB)
IDA
GO:0043401
P41235 (UniProtKB)
IEA
GO:0043433
P41235 (UniProtKB)
IEA
GO:0044212
P41235 (UniProtKB)
IDA
GO:0045216
P41235 (UniProtKB)
IEA
GO:0045722
P41235 (UniProtKB)
IEA
GO:0045723
P41235 (UniProtKB)
IEA
GO:0045893
P41235 (UniProtKB)
IDA
GO:0045930
P41235 (UniProtKB)
IEA
GO:0045944
P41235 (UniProtKB)
IMP
GO:0045944
P41235 (UniProtKB)
IDA
GO:0050796
P41235 (UniProtKB)
ISS
GO:0051591
P41235 (UniProtKB)
IEA
GO:0055088
P41235 (UniProtKB)
IMP
GO:0055091
P41235 (UniProtKB)
ISS
GO:0060395
P41235 (UniProtKB)
IEA
GO:0060398
P41235 (UniProtKB)
NAS
GO:0060398
P41235 (UniProtKB)
NAS
GO:0070328
P41235 (UniProtKB)
ISS
GO:1902569
P41235 (UniProtKB)
IEA
GO:2000189
P41235 (UniProtKB)
ISS

基因相关microRNA

基因相关microRNA

可能调控 HNF4A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
Diabetes Mellitus, Non-Insulin-Dependent 0.607542054 153 15 BeFree_CLINVAR_CTD_human_GAD_GWASCAT_LHGDN_UNIPROT
Maturity-Onset Diabetes of the Young, Type 1 0.441628651 10 14 BeFree_CLINVAR_CTD_human_MGD_UNIPROT
Maturity onset diabetes mellitus in young 0.145439591 85 0 BeFree_CTD_human_GAD
Ulcerative Colitis 0.126362715 7 1 BeFree_CTD_human_GAD
Hyperinsulinism 0.124267125 7 2 BeFree_CLINVAR_GAD
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG 0.12 1 0 UNIPROT
Diabetic Nephropathy 0.083538676 3 0 BeFree_LHGDN_RGD
Diabetes Mellitus, Experimental 0.08 1 0 RGD
Diabetes Mellitus 0.031411312 108 11 BeFree_GAD
Diabetes 0.027144187 100 11 BeFree

基因相关服务

基因相关服务

联系方式

山东省济南市章丘区文博路2号 齐鲁师范学院 genelibs生信实验室

山东省济南市高新区舜华路750号大学科技园北区F座4单元2楼

电话： 0531-88819269

E-mail: product@genelibs.com

微信公众号

关注微信订阅号，实时查看信息，关注医学生物学动态。

版权所有 © 2025.Genelibs 济南弘晖生物技术有限公司 鲁ICP备13024435号-2