INSR (insulin receptor)

基因基本信息

基因基本信息

symbol:
INSR
locus group:
protein-coding gene
location:
19p13.2
gene_family:
Receptor Tyrosine Kinases|CD molecules|Fibronectin type III domain containing
alias symbol:
CD220
alias name:
None
entrez id:
3643
ensembl gene id:
ENSG00000171105
ucsc gene id:
uc002mgd.2
refseq accession:
NM_000208
hgnc_id:
HGNC:6091
approved reserved:
1986-01-01

基因染色体位置

基因染色体位置

19p13.2
基因染色体位置图

基因简述

基因简述

INSR（胰岛素受体基因）编码胰岛素受体蛋白，是一种跨膜酪氨酸激酶受体，主要分布在肝脏、肌肉和脂肪组织等胰岛素敏感组织的细胞膜上。它的生物学功能是介导胰岛素信号传导，通过与胰岛素结合激活下游信号通路（如PI3K-AKT和MAPK通路），从而调控葡萄糖摄取、糖原合成、脂质代谢和细胞生长等关键生理过程。该基因表达产物为α和β亚基组成的异源四聚体，α亚基负责胰岛素结合，β亚基具有激酶活性。INSR属于受体酪氨酸激酶（RTK）基因家族，该家族成员均通过配体诱导的酪氨酸磷酸化传递细胞外信号。若INSR发生突变（如A1135T或R1152Q），可能导致受体功能丧失或信号传导障碍，引发胰岛素抵抗、Rabson-Mendenhall综合征或A型胰岛素抵抗等疾病。该基因过表达可能增强胰岛素敏感性，但异常高表达可能与某些癌症（如乳腺癌）的进展相关；而表达降低或功能缺陷则会导致高血糖、2型糖尿病或代谢综合征。INSR还与多囊卵巢综合征（PCOS）和阿尔茨海默病风险相关，因其信号通路影响神经元存活和tau蛋白磷酸化。该基因的剪接异构体INSR-A（缺失外显子11）主要在胎儿组织中表达，与细胞增殖相关；而INSR-B在成人组织中主导代谢调节。

After removal of the precursor signal peptide, the insulin receptor precursor is post-translationally cleaved into two chains (alpha and beta) that are covalently linked. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

除去该前体的信号肽后，胰岛素受体前体的翻译后切割成两条链（α和β），该共价连接。结合胰岛素的胰岛素受体（INSR）刺激葡萄糖摄取。已发现该基因编码不同亚型的两个转录变异体。 [由RefSeq的，2008年7月提供]

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

基因序列

基因序列

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

基因突变

基因突变

INSR基因的碱基突变：           仅显示部分snp
rs2962       rs2963       rs12132       rs12642       rs768129       rs881759       rs890830       rs890859       rs890860       rs890861       rs890862       rs891087       rs891088       rs919275       rs934099       rs1035939       rs1035940      

基因表达

基因表达

INSR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
CAAGAAGTTTGTGCATCGG
58
GGTCATTCCAAAGTCTCCA
57
GATGAATTCCAGCAACTTGC
58
GTCTTCTCGCCTTCTAGGA
58
GAAGGTGGTGAACAAGGAG
58
ACAATGTCATCAGCCTTGG
58
AGGCTGAGAATAATCCTGGC
60
TTCTTGGCGTTCAGGTAGG
60
AGGCTGAGAATAATCCTGGC
60
TTCTTGGCGTTCAGGTAGG
60
GATTATTGCCTCAAAGGGCG
60
ATTACTGGTGGCAGCTCTC
60
CAGACTATTTAGACGTCCCGT
59
TCACAACACTGAAGAGAAAGAC
59
GAAGGTGGTGAACAAGGAG
58
AATGTCATCAGCCTTGGCT
60
CAGACTATTTAGACGTCCCGT
59
TCACAACACTGAAGAGAAAGAC
59
CCAGAGGCTGAGAATAATCCT
59
ATCCCGTCAGCAATCTCTG
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）
CEBPA
INSR
Activation
8288055
CEBPB
INSR
Activation
8288055
ESR2
INSR
Repression
22099628
HMGA1
INSR
Activation
16707431
HMGA1
INSR
Repression
17434141
SP1
INSR
Activation
1311316; 16707431
SP1
INSR
Unknown
7983788

基因本体信息

INSR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

INSR基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0000187
P06213 (UniProtKB)
IMP
GO:0001933
P06213 (UniProtKB)
IEA
GO:0001934
P06213 (UniProtKB)
IDA
GO:0003007
P06213 (UniProtKB)
IMP
GO:0004713
P06213 (UniProtKB)
IMP
GO:0004713
P06213 (UniProtKB)
IDA
GO:0004716
P06213 (UniProtKB)
IDA
GO:0005009
P06213 (UniProtKB)
IDA
GO:0005009
P06213 (UniProtKB)
IDA
GO:0005159
P06213 (UniProtKB)
IDA
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005515
P06213 (UniProtKB)
IPI
GO:0005524
P06213 (UniProtKB)
IDA
GO:0005525
P06213 (UniProtKB)
IDA
GO:0005634
P06213 (UniProtKB)
IEA
GO:0005829
P06213 (UniProtKB)
IEA
GO:0005886
P06213 (UniProtKB)
IC
GO:0005886
P06213 (UniProtKB)
TAS
GO:0005886
P06213 (UniProtKB)
TAS
GO:0005886
P06213 (UniProtKB)
TAS
GO:0005886
P06213 (UniProtKB)
TAS
GO:0005886
P06213 (UniProtKB)
TAS
GO:0005886
P06213 (UniProtKB)
TAS
GO:0005886
P06213 (UniProtKB)
TAS
GO:0005886
P06213 (UniProtKB)
TAS
GO:0005886
P06213 (UniProtKB)
TAS
GO:0005886
P06213 (UniProtKB)
TAS
GO:0005886
P06213 (UniProtKB)
TAS
GO:0005887
P06213 (UniProtKB)
IDA
GO:0005899
P06213 (UniProtKB)
IMP
GO:0005901
P06213 (UniProtKB)
IDA
GO:0005975
P06213 (UniProtKB)
IEA
GO:0006355
P06213 (UniProtKB)
IMP
GO:0007186
P06213 (UniProtKB)
IDA
GO:0008284
P06213 (UniProtKB)
IC
GO:0008284
P06213 (UniProtKB)
IDA
GO:0008286
P06213 (UniProtKB)
IDA
GO:0008286
P06213 (UniProtKB)
IDA
GO:0008286
P06213 (UniProtKB)
IDA
GO:0008286
P06213 (UniProtKB)
TAS
GO:0008544
P06213 (UniProtKB)
IEA
GO:0008584
P06213 (UniProtKB)
IEA
GO:0010008
P06213 (UniProtKB)
TAS
GO:0010008
P06213 (UniProtKB)
TAS
GO:0010008
P06213 (UniProtKB)
TAS
GO:0010008
P06213 (UniProtKB)
TAS
GO:0010042
P06213 (UniProtKB)
IEA
GO:0010310
P06213 (UniProtKB)
IEA
GO:0010560
P06213 (UniProtKB)
IEA
GO:0010629
P06213 (UniProtKB)
IEA
GO:0014823
P06213 (UniProtKB)
IEA
GO:0016020
P06213 (UniProtKB)
IDA
GO:0018108
P06213 (UniProtKB)
IDA
GO:0019087
P06213 (UniProtKB)
IMP
GO:0019903
P06213 (UniProtKB)
IEA
GO:0023014
P06213 (UniProtKB)
IEA
GO:0030238
P06213 (UniProtKB)
IEA
GO:0030325
P06213 (UniProtKB)
IEA
GO:0030335
P06213 (UniProtKB)
IMP
GO:0031017
P06213 (UniProtKB)
IEA
GO:0031405
P06213 (UniProtKB)
IEA
GO:0031994
P06213 (UniProtKB)
IPI
GO:0031995
P06213 (UniProtKB)
IPI
GO:0032147
P06213 (UniProtKB)
IMP
GO:0032148
P06213 (UniProtKB)
IDA
GO:0032355
P06213 (UniProtKB)
IEA
GO:0032403
P06213 (UniProtKB)
IEA
GO:0032410
P06213 (UniProtKB)
IEA
GO:0032869
P06213 (UniProtKB)
IDA
GO:0033280
P06213 (UniProtKB)
IEA
GO:0033574
P06213 (UniProtKB)
IEA
GO:0034612
P06213 (UniProtKB)
IEA
GO:0038083
P06213 (UniProtKB)
IEA
GO:0042593
P06213 (UniProtKB)
IMP
GO:0043231
P06213 (UniProtKB)
IDA
GO:0043235
P06213 (UniProtKB)
IDA
GO:0043410
P06213 (UniProtKB)
IMP
GO:0043410
P06213 (UniProtKB)
IDA
GO:0043423
P06213 (UniProtKB)
IEA
GO:0043548
P06213 (UniProtKB)
IPI
GO:0043548
P06213 (UniProtKB)
IPI
GO:0043559
P06213 (UniProtKB)
IDA
GO:0043559
P06213 (UniProtKB)
IPI
GO:0043560
P06213 (UniProtKB)
IPI
GO:0043560
P06213 (UniProtKB)
IPI
GO:0043560
P06213 (UniProtKB)
IPI
GO:0045202
P06213 (UniProtKB)
IEA
GO:0045429
P06213 (UniProtKB)
IMP
GO:0045444
P06213 (UniProtKB)
IEA
GO:0045471
P06213 (UniProtKB)
IEA
GO:0045725
P06213 (UniProtKB)
IDA
GO:0045740
P06213 (UniProtKB)
IMP
GO:0045821
P06213 (UniProtKB)
IMP
GO:0045840
P06213 (UniProtKB)
IMP
GO:0045893
P06213 (UniProtKB)
IEA
GO:0045995
P06213 (UniProtKB)
IMP
GO:0046326
P06213 (UniProtKB)
NAS
GO:0046326
P06213 (UniProtKB)
IDA
GO:0046777
P06213 (UniProtKB)
IDA
GO:0046777
P06213 (UniProtKB)
IMP
GO:0046777
P06213 (UniProtKB)
IDA
GO:0048639
P06213 (UniProtKB)
IMP
GO:0051290
P06213 (UniProtKB)
IDA
GO:0051384
P06213 (UniProtKB)
IEA
GO:0051425
P06213 (UniProtKB)
IPI
GO:0051446
P06213 (UniProtKB)
IEA
GO:0051897
P06213 (UniProtKB)
IMP
GO:0060267
P06213 (UniProtKB)
IDA
GO:0070062
P06213 (UniProtKB)
IDA
GO:0070062
P06213 (UniProtKB)
IDA
GO:0071363
P06213 (UniProtKB)
IEA
GO:2000194
P06213 (UniProtKB)
IEA

基因相关microRNA

基因相关microRNA

可能调控 INSR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
Donohue Syndrome 0.493496149 46 17 BeFree_CLINVAR_CTD_human_GAD_ORPHANET_UNIPROT
Hyperinsulinemic Hypoglycemia, Familial, 5 0.48 1 3 CLINVAR_CTD_human_ORPHANET_UNIPROT
Diabetes Mellitus, Non-Insulin-Dependent 0.401043039 114 11 BeFree_CLINVAR_GAD_RGD_UNIPROT
Rabson-Mendenhall Syndrome 0.364071628 19 4 BeFree_CLINVAR_ORPHANET_UNIPROT
Insulin Resistance 0.33183516 8 3 CLINVAR_CTD_human_GAD_RGD
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 0.24 18 5 CTD_human_UNIPROT
Alzheimer's Disease 0.200542884 4 0 BeFree_CTD_human_RGD
Diabetic Neuropathies 0.2 1 0 CTD_human_RGD
Diabetes Mellitus, Experimental 0.2 5 0 CTD_human_RGD
Polycystic Ovary Syndrome 0.159801061 34 2 BeFree_GAD_GWASCAT_LHGDN

基因相关服务

基因相关服务

联系方式

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