LRP6 (LDL receptor related protein 6)

基因基本信息

基因基本信息

symbol:
LRP6
locus group:
protein-coding gene
location:
12p13.2
gene_family:
Low density lipoprotein receptors
alias symbol:
ADCAD2
alias name:
None
entrez id:
4040
ensembl gene id:
ENSG00000070018
ucsc gene id:
uc001rah.6
refseq accession:
NM_002336
hgnc_id:
HGNC:6698
approved reserved:
1998-04-07

基因染色体位置

基因染色体位置

12p13.2
基因染色体位置图

基因简述

基因简述

LRP6（低密度脂蛋白受体相关蛋白6）是Wnt信号通路中的关键受体，属于LRP基因家族（低密度脂蛋白受体相关蛋白家族）。该家族成员均为单次跨膜蛋白，具有相似的胞外配体结合域结构，主要参与细胞信号转导和内吞作用。LRP6与Wnt蛋白结合后，与卷曲蛋白（Frizzled）共同形成受体复合物，激活经典的Wnt/β-catenin通路，调控胚胎发育、细胞增殖、分化和组织稳态。其胞内段含有多个PPPSP基序，可被GSK3β磷酸化并招募轴蛋白（Axin），从而抑制β-catenin降解，使其入核激活靶基因转录。LRP6突变会导致功能异常，如错义突变G171V会减弱Wnt信号传导，与骨质疏松、冠状动脉疾病相关；而功能获得性突变（如R611C）可能过度激活Wnt通路，与多种癌症（结直肠癌、乳腺癌）发生相关。LRP6表达异常会显著影响机体：过表达会持续激活Wnt通路，促进肿瘤发生和转移，同时可能抑制成骨细胞分化；而表达降低则导致Wnt信号减弱，影响胚胎发育（如神经管缺陷）和骨形成（如骨质疏松）。该基因还与阿尔茨海默病相关，因其参与调节淀粉样前体蛋白代谢。LRP家族共性包括：均含有EGF重复序列和β-螺旋桨结构域，参与多种信号通路（如Wnt、Hedgehog）和脂质代谢，在发育和疾病中发挥核心作用。

This gene encodes a member of the low density lipoprotein (LDL) receptor gene family. LDL receptors are transmembrane cell surface proteins involved in receptor-mediated endocytosis of lipoprotein and protein ligands. The protein encoded by this gene functions as a receptor or, with Frizzled, a co-receptor for Wnt and thereby transmits the canonical Wnt/beta-catenin signaling cascade. Through its interaction with the Wnt/beta-catenin signaling cascade this gene plays a role in the regulation of cell differentiation, proliferation, and migration and the development of many cancer types. This protein undergoes gamma-secretase dependent RIP- (regulated intramembrane proteolysis) processing but the precise locations of the cleavage sites have not been determined.[provided by RefSeq, Dec 2009]

该基因编码的低密度脂蛋白（LDL）受体基因家族的一个成员。 LDL受体是参与脂蛋白和蛋白质配体的受体介导的胞吞作用的跨膜细胞表面蛋白。由该基因的功能作为受体或与卷曲，共受体的Wnt和由此编码的蛋白质发送经典Wnt /β-连环蛋白信号传导级联。通过与Wnt基因/β-连环蛋白信号级联相互作用这个基因在细胞分化，增殖和迁移以及许多癌症类型的发育的调控作用。这种蛋白质经受γ分泌依赖RIP-（调节膜内蛋白水解）的处理，但在切割位点的精确位置尚未确定。[通过的RefSeq，2009年12月提供]

OMIM数据库中对LRP6基因的介绍     Wikipedia数据库中对LRP6基因的介绍

基因序列

基因序列

LRP6基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

LRP6基因的碱基突变：           仅显示部分snp
rs718403       rs718403       rs1012672       rs1012672       rs1015830       rs1015830       rs1015831       rs1015831       rs1061173       rs1061173       rs1123213       rs1123213       rs1181332       rs1181332       rs1181333       rs1181333       rs1181334      

基因表达

基因表达

LRP6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
CCTGAGAGGTTCATGTACTG
58
AATGAAGCGACTTGAACCA
58
GAGGAAGATCTTGATTTCAGAGG
59
GTCCAATACATGTACCCAACC
59
CACAGAGCGATCACATTACAC
60
TGGCCTGTAGCTGTATGAC
59
TGAGAAGAACTGTGAAGTGCT
60
CACACTTCTTGTGCTTTCCA
59
GGATGGAACAAATCGGCAG
59
TCAGTCCAGTACAATATGTCCT
59
GTCAGTGCATTGGAAAGCA
59
TCGAGACATTCAACAATCCAG
59
GAGGAAGATCTTGATTTCAGAGG
59
GTCCAATACATGTACCCAACC
59
AGCTATCATGTGGAGAGTCC
59
TTGCATCTCCATTGCATCG
59
ATCATGTGGAGAGTCCCAG
59
CAGTTTGCATCTCCATTGC
58
TCCTGAGAGGTTCATGTACTG
59
GAAGCGACTTGAACCATCC
59

转录因子

转录因子

      尚未收录相关数据

基因本体信息

LRP6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

LRP6基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0016021
F5H7J9 (UniProtKB)
IEA
GO:0016021
H0YGW5 (UniProtKB)
IEA
GO:0001843
O75581 (UniProtKB)
IBA
GO:0001933
O75581 (UniProtKB)
IMP
GO:0003344
O75581 (UniProtKB)
IBA
GO:0005041
O75581 (UniProtKB)
IDA
GO:0005102
O75581 (UniProtKB)
IPI
GO:0005109
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005515
O75581 (UniProtKB)
IPI
GO:0005576
O75581 (UniProtKB)
TAS
GO:0005783
O75581 (UniProtKB)
IEA
GO:0005829
O75581 (UniProtKB)
IEA
GO:0005886
O75581 (UniProtKB)
IDA
GO:0005886
O75581 (UniProtKB)
IDA
GO:0005886
O75581 (UniProtKB)
IDA
GO:0005886
O75581 (UniProtKB)
TAS
GO:0005886
O75581 (UniProtKB)
TAS
GO:0005886
O75581 (UniProtKB)
TAS
GO:0005886
O75581 (UniProtKB)
TAS
GO:0005886
O75581 (UniProtKB)
TAS
GO:0005886
O75581 (UniProtKB)
TAS
GO:0005886
O75581 (UniProtKB)
TAS
GO:0005886
O75581 (UniProtKB)
TAS
GO:0005886
O75581 (UniProtKB)
TAS
GO:0005886
O75581 (UniProtKB)
TAS
GO:0005886
O75581 (UniProtKB)
TAS
GO:0006469
O75581 (UniProtKB)
IMP
GO:0007204
O75581 (UniProtKB)
IEA
GO:0007268
O75581 (UniProtKB)
IBA
GO:0009880
O75581 (UniProtKB)
IBA
GO:0009986
O75581 (UniProtKB)
IDA
GO:0014029
O75581 (UniProtKB)
IDA
GO:0014033
O75581 (UniProtKB)
IDA
GO:0016021
O75581 (UniProtKB)
IEA
GO:0016055
O75581 (UniProtKB)
IMP
GO:0016055
O75581 (UniProtKB)
IDA
GO:0016055
O75581 (UniProtKB)
IDA
GO:0016055
O75581 (UniProtKB)
IMP
GO:0016337
O75581 (UniProtKB)
IEA
GO:0017147
O75581 (UniProtKB)
IPI
GO:0017147
O75581 (UniProtKB)
IPI
GO:0017147
O75581 (UniProtKB)
IPI
GO:0017147
O75581 (UniProtKB)
IPI
GO:0017147
O75581 (UniProtKB)
TAS
GO:0019210
O75581 (UniProtKB)
IMP
GO:0019534
O75581 (UniProtKB)
IMP
GO:0021587
O75581 (UniProtKB)
IBA
GO:0021794
O75581 (UniProtKB)
IBA
GO:0021987
O75581 (UniProtKB)
IBA
GO:0030917
O75581 (UniProtKB)
IBA
GO:0031410
O75581 (UniProtKB)
IDA
GO:0031410
O75581 (UniProtKB)
IDA
GO:0031901
O75581 (UniProtKB)
TAS
GO:0031901
O75581 (UniProtKB)
TAS
GO:0034185
O75581 (UniProtKB)
IBA
GO:0034392
O75581 (UniProtKB)
IMP
GO:0035261
O75581 (UniProtKB)
IBA
GO:0042475
O75581 (UniProtKB)
IBA
GO:0042802
O75581 (UniProtKB)
IPI
GO:0042803
O75581 (UniProtKB)
IPI
GO:0042813
O75581 (UniProtKB)
IBA
GO:0043025
O75581 (UniProtKB)
IBA
GO:0043235
O75581 (UniProtKB)
IBA
GO:0043434
O75581 (UniProtKB)
IEA
GO:0044332
O75581 (UniProtKB)
IDA
GO:0044335
O75581 (UniProtKB)
IC
GO:0044340
O75581 (UniProtKB)
IC
GO:0045202
O75581 (UniProtKB)
IBA
GO:0045787
O75581 (UniProtKB)
IMP
GO:0045893
O75581 (UniProtKB)
IMP
GO:0045944
O75581 (UniProtKB)
IDA
GO:0051091
O75581 (UniProtKB)
IDA
GO:0060021
O75581 (UniProtKB)
IBA
GO:0060026
O75581 (UniProtKB)
IBA
GO:0060059
O75581 (UniProtKB)
IBA
GO:0060070
O75581 (UniProtKB)
IDA
GO:0060070
O75581 (UniProtKB)
IDA
GO:0060070
O75581 (UniProtKB)
IDA
GO:0060070
O75581 (UniProtKB)
IDA
GO:0060070
O75581 (UniProtKB)
IMP
GO:0060070
O75581 (UniProtKB)
IDA
GO:0060070
O75581 (UniProtKB)
IDA
GO:0060070
O75581 (UniProtKB)
TAS
GO:0060325
O75581 (UniProtKB)
IBA
GO:0060535
O75581 (UniProtKB)
IBA
GO:0071397
O75581 (UniProtKB)
IMP
GO:0071542
O75581 (UniProtKB)
ISS
GO:0071901
O75581 (UniProtKB)
IDA
GO:0071936
O75581 (UniProtKB)
IDA
GO:0072659
O75581 (UniProtKB)
IPI
GO:0090009
O75581 (UniProtKB)
IBA
GO:0090090
O75581 (UniProtKB)
TAS
GO:0090118
O75581 (UniProtKB)
IBA
GO:0090244
O75581 (UniProtKB)
IBA
GO:0090245
O75581 (UniProtKB)
IBA
GO:0090263
O75581 (UniProtKB)
IDA
GO:0090263
O75581 (UniProtKB)
IDA
GO:0090263
O75581 (UniProtKB)
IDA
GO:0090263
O75581 (UniProtKB)
IDA
GO:0090263
O75581 (UniProtKB)
IDA
GO:1901998
O75581 (UniProtKB)
IEA
GO:1904886
O75581 (UniProtKB)
TAS
GO:1904928
O75581 (UniProtKB)
NAS
GO:1904948
O75581 (UniProtKB)
TAS
GO:1904953
O75581 (UniProtKB)
TAS
GO:1990851
O75581 (UniProtKB)
IPI
GO:1990851
O75581 (UniProtKB)
IPI
GO:1990851
O75581 (UniProtKB)
IDA
GO:1990851
O75581 (UniProtKB)
TAS
GO:1990909
O75581 (UniProtKB)
IDA
GO:1990909
O75581 (UniProtKB)
NAS
GO:2000055
O75581 (UniProtKB)
IDA
GO:0019534
O75581 (UniProtKB)
IMP
GO:0005769
O75581 (UniProtKB)
IDA
GO:0005794
O75581 (UniProtKB)
IDA
GO:0005901
O75581 (UniProtKB)
IDA
GO:0005901
O75581 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 LRP6基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

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
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (disorder) 0.36 1 4 CLINVAR_CTD_human_UNIPROT
Neural tube defect, folate-sensitive 0.08 0 0 MGD
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 0.08 0 0 MGD
Age related macular degeneration 0.007729856 2 0 BeFree_GAD_LHGDN
Coronary Artery Disease 0.005905708 5 1 BeFree_GAD_LHGDN
Alzheimer's Disease 0.005091382 1 0 GAD_LHGDN
Degenerative polyarthritis 0.004734064 2 0 GAD
Osteoporosis 0.003181358 4 0 BeFree_GAD
Microphthalmos 0.002367032 1 0 GAD
Congenital ocular coloboma (disorder) 0.002367032 1 0 GAD

基因相关服务

基因相关服务

联系方式

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