RORA (RAR related orphan receptor A)

基因基本信息

基因基本信息

symbol:
RORA
locus group:
protein-coding gene
location:
15q22.2
gene_family:
Nuclear hormone receptors
alias symbol:
RZRA|ROR1|ROR2|ROR3|NR1F1
alias name:
None
entrez id:
6095
ensembl gene id:
ENSG00000069667
ucsc gene id:
uc002agx.4
refseq accession:
NM_134261
hgnc_id:
HGNC:10258
approved reserved:
1995-04-13

基因染色体位置

基因染色体位置

15q22.2
基因染色体位置图

基因简述

基因简述

RORA（Retinoic Acid Receptor-Related Orphan Receptor Alpha）属于核受体超家族中的ROR亚家族，该家族还包括RORB和RORC，共同特点是能结合DNA特定序列（ROR反应元件）并调控靶基因转录，参与昼夜节律、免疫调节和代谢等过程。RORA编码的蛋白质作为配体依赖性转录因子，其配体包括胆固醇衍生物（如7-脱氢胆固醇），通过激活或抑制下游基因（如BMAL1、NF-κB）影响生物钟、炎症反应和脂质代谢。主要作用位点包括大脑（特别是小脑和视交叉上核）、肝脏、脂肪组织和免疫细胞。突变可能导致功能丧失或异常激活，与多种疾病相关：如小脑共济失调（因神经元发育异常）、自闭症谱系障碍（突触功能紊乱）、肥胖（脂代谢失调）和炎症性疾病（如哮喘、类风湿关节炎，因NF-κB通路失调）。过表达时可能增强抗炎作用但抑制Th17细胞分化，导致免疫失衡；低表达则破坏昼夜节律同步化，加剧代谢综合征和神经退行性病变。RORA还通过调控Bmal1基因影响生物钟，其表达下降会连锁导致周期基因（如Per、Cry）紊乱。该基因家族共性为含有保守的DNA结合域和配体结合域，通过胆固醇类分子调控，在发育和稳态维持中发挥核心作用。目前中文常将"orphan receptor"直译为孤儿受体，指尚未明确内源性配体的核受体，但RORA实际已发现部分胆固醇衍生物作为配体。

The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protein has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, as well as with NM23-1, the product of a tumor metastasis suppressor candidate gene. Also, it has been shown to aid in the transcriptional regulation of some genes involved in circadian rhythm. Four transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2014]

由该基因编码的蛋白质是核激素受体的NR1亚科的成员。它可以结合作为单体或作为同二聚体激素上游的几个基因的应答元件以增强这些基因的表达。所编码的蛋白质已被证明与NM23-2，参与器官发生和分化，以及与NM23-1，肿瘤转移抑制候选基因的产物的核苷二磷酸激酶相互作用。另外，已经表明在参与昼夜节律某些基因的转录调节来帮助。编码不同亚型四个抄本变形已经为这个基因描述。 [由RefSeq的，2014年2月提供]

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

基因序列

基因序列

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

基因突变

基因突变

RORA基因的碱基突变：           仅显示部分snp
rs718115       rs726913       rs726914       rs726955       rs737689       rs893289       rs893290       rs920228       rs964361       rs967402       rs1025676       rs1370430       rs1370431       rs1370432       rs1437545       rs1437546       rs1529991      

基因表达

基因表达

RORA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
GCTGATTGCACTGAAACCA
59
TTTGGAGCCAACTCAAACC
59
ACAGAGCTATTCCAGCACC
60
GTACATCAGATGGTCAGCC
58
AGATGCTTCATGTTGATCCC
58
ATGGTTCTGTAGTATGCGG
57
ATGGGAAACTGAAGCAATCC
59
GTTACTGAGATACCTGACTTCC
58
ACAGAGCTATTCCAGCACC
60
CATGCCTGCCATGTATGTG
59
GGGTCATTGTCTTCGAACTG
59
GTTGAAGAGCTTCTGGCTC
59
GTACTGATGTCAGCAGATCG
58
CGTGTTGAAGAGCTAGCTG
59
AGAATTAGAACACCTTGCACAG
59
ATCTGCTGGAGCTCTTCTC
58
AGAGCTATTCCAGCACCAG
59
TTTCTGTTGGTCCCACCTC
60
GTACTGATGTCAGCAGATCG
58
CGTGTTGAAGAGCTAGCTG
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）
HIF1A
RORA
Activation
14742449
RORA
APOA5
Unknown
16448983
RORA
E2F1
Unknown
24891616
RORA
NPSR1
Repression
23565190
RORA
NR1D1
Activation
22024429
RORA
TUBA1B
Unknown
23029400
SP1
RORA
Activation
14742449
SP3
RORA
Activation
14742449

基因本体信息

RORA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

RORA基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0003707
A0A0C4DFP5 (UniProtKB)
IEA
GO:0004879
A0A0C4DFP5 (UniProtKB)
IEA
GO:0005634
A0A0C4DFP5 (UniProtKB)
IEA
GO:0006351
A0A0C4DFP5 (UniProtKB)
IEA
GO:0006355
A0A0C4DFP5 (UniProtKB)
IEA
GO:0008270
A0A0C4DFP5 (UniProtKB)
IEA
GO:0030522
A0A0C4DFP5 (UniProtKB)
IEA
GO:0043401
A0A0C4DFP5 (UniProtKB)
IEA
GO:0043565
A0A0C4DFP5 (UniProtKB)
IEA
GO:0003707
A0A0C4DG53 (UniProtKB)
IEA
GO:0004879
A0A0C4DG53 (UniProtKB)
IEA
GO:0005634
A0A0C4DG53 (UniProtKB)
IEA
GO:0006351
A0A0C4DG53 (UniProtKB)
IEA
GO:0006355
A0A0C4DG53 (UniProtKB)
IEA
GO:0008270
A0A0C4DG53 (UniProtKB)
IEA
GO:0030522
A0A0C4DG53 (UniProtKB)
IEA
GO:0043401
A0A0C4DG53 (UniProtKB)
IEA
GO:0043565
A0A0C4DG53 (UniProtKB)
IEA
GO:0003700
H0YLS5 (UniProtKB)
IEA
GO:0005634
H0YLS5 (UniProtKB)
IEA
GO:0006351
H0YLS5 (UniProtKB)
IEA
GO:0006355
H0YLS5 (UniProtKB)
IEA
GO:0008270
H0YLS5 (UniProtKB)
IEA
GO:0043401
H0YLS5 (UniProtKB)
IEA
GO:0043565
H0YLS5 (UniProtKB)
IEA
GO:0000977
P35398 (UniProtKB)
IDA
GO:0001046
P35398 (UniProtKB)
IDA
GO:0001222
P35398 (UniProtKB)
IPI
GO:0001223
P35398 (UniProtKB)
IPI
GO:0001223
P35398 (UniProtKB)
IPI
GO:0001223
P35398 (UniProtKB)
IPI
GO:0001525
P35398 (UniProtKB)
IMP
GO:0003677
P35398 (UniProtKB)
IDA
GO:0003677
P35398 (UniProtKB)
IDA
GO:0003677
P35398 (UniProtKB)
IDA
GO:0003700
P35398 (UniProtKB)
IDA
GO:0003700
P35398 (UniProtKB)
IDA
GO:0003700
P35398 (UniProtKB)
IDA
GO:0003700
P35398 (UniProtKB)
IDA
GO:0003700
P35398 (UniProtKB)
IDA
GO:0003707
P35398 (UniProtKB)
IEA
GO:0004879
P35398 (UniProtKB)
IEA
GO:0005515
P35398 (UniProtKB)
IPI
GO:0005515
P35398 (UniProtKB)
IPI
GO:0005515
P35398 (UniProtKB)
IPI
GO:0005515
P35398 (UniProtKB)
IPI
GO:0005515
P35398 (UniProtKB)
IPI
GO:0005634
P35398 (UniProtKB)
IDA
GO:0005634
P35398 (UniProtKB)
IDA
GO:0005654
P35398 (UniProtKB)
TAS
GO:0006355
P35398 (UniProtKB)
IDA
GO:0006367
P35398 (UniProtKB)
TAS
GO:0006805
P35398 (UniProtKB)
ISS
GO:0006809
P35398 (UniProtKB)
IEA
GO:0008013
P35398 (UniProtKB)
IEA
GO:0008134
P35398 (UniProtKB)
IPI
GO:0008134
P35398 (UniProtKB)
IPI
GO:0008142
P35398 (UniProtKB)
IDA
GO:0008270
P35398 (UniProtKB)
IEA
GO:0008589
P35398 (UniProtKB)
ISS
GO:0010575
P35398 (UniProtKB)
IMP
GO:0010906
P35398 (UniProtKB)
ISS
GO:0019218
P35398 (UniProtKB)
ISS
GO:0021702
P35398 (UniProtKB)
IEA
GO:0021930
P35398 (UniProtKB)
ISS
GO:0030522
P35398 (UniProtKB)
IDA
GO:0032922
P35398 (UniProtKB)
ISS
GO:0036315
P35398 (UniProtKB)
IMP
GO:0036315
P35398 (UniProtKB)
IDA
GO:0042692
P35398 (UniProtKB)
IMP
GO:0042753
P35398 (UniProtKB)
ISS
GO:0043030
P35398 (UniProtKB)
IEA
GO:0043124
P35398 (UniProtKB)
IMP
GO:0043401
P35398 (UniProtKB)
IEA
GO:0043565
P35398 (UniProtKB)
IDA
GO:0045599
P35398 (UniProtKB)
ISS
GO:0045893
P35398 (UniProtKB)
IDA
GO:0045944
P35398 (UniProtKB)
IDA
GO:0045944
P35398 (UniProtKB)
IDA
GO:0046068
P35398 (UniProtKB)
IEA
GO:0050728
P35398 (UniProtKB)
IMP
GO:0060850
P35398 (UniProtKB)
ISS
GO:0070328
P35398 (UniProtKB)
IMP
GO:0071347
P35398 (UniProtKB)
IEA
GO:0071356
P35398 (UniProtKB)
IEA
GO:0071456
P35398 (UniProtKB)
IMP
GO:0072539
P35398 (UniProtKB)
ISS
GO:0098531
P35398 (UniProtKB)
IDA
GO:2000188
P35398 (UniProtKB)
ISS

基因相关microRNA

基因相关microRNA

可能调控 RORA基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

Reactome

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
Mental Depression 0.125276948 2 1 BeFree_GAD_GWASCAT
Asthma 0.120271442 2 1 BeFree_GWASCAT
Autistic Disorder 0.12 2 0 CTD_human
Stomach Neoplasms 0.12 1 0 CTD_human
Peripheral Neuropathy 0.12 1 0 CTD_human
Bipolar Disorder 0.005819831 6 9 BeFree_GAD
Anoxia 0.0054487 2 0 LHGDN
Robinow Syndrome 0.004071628 15 0 BeFree
BRACHYDACTYLY, TYPE B1 0.003800186 14 0 BeFree
Chronic Lymphocytic Leukemia 0.003528744 13 0 BeFree

基因相关服务

基因相关服务

联系方式

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