LEFTY2 (left-right determination factor 2)

symbol:
LEFTY2
locus group:
protein-coding gene
location:
1q42.12
gene_family:
alias symbol:
LEFTA|LEFTYA
alias name:
transforming growth factor, beta-4…
entrez id:
7044
ensembl gene id:
ENSG00000143768
ucsc gene id:
uc001hpt.3
refseq accession:
NM_003240
hgnc_id:
HGNC:3122
approved reserved:
1998-01-20
1q42.12
基因染色体位置图

LEFTY2(也称为Lefty2或LEFTYB)属于TGF-β(转化生长因子-β)超家族中的一员,是Nodal信号通路的拮抗剂。它属于Lefty基因家族,该家族还包括LEFTY1(LeftyA),两者在胚胎发育中起关键作用,特别是在左右不对称模式的建立中。Lefty家族基因的共同特点是它们编码分泌型蛋白,能够抑制Nodal信号通路,从而调节胚胎发育过程中的细胞命运和组织模式。LEFTY2主要在胚胎发育过程中表达,特别是在左侧侧板中胚层和神经管中,其功能是通过拮抗Nodal信号来确保左右不对称发育的正常进行。LEFTY2的突变或表达异常可能导致左右不对称发育缺陷,如内脏异位(situs inversus)或先天性心脏病。过表达LEFTY2可能抑制Nodal信号通路,导致胚胎发育异常,如左右不对称模式的破坏或器官发育缺陷。相反,降低LEFTY2表达可能导致Nodal信号过度激活,同样影响胚胎的左右不对称发育。LEFTY2还与某些癌症相关,例如在卵巢癌和乳腺癌中,LEFTY2的表达可能异常,影响肿瘤细胞的迁移和侵袭能力。此外,LEFTY2在成年组织中的表达较低,但在某些病理条件下可能重新激活。LEFTY2的功能不仅限于胚胎发育,还可能参与成体组织的稳态维持和修复过程。总的来说,LEFTY2是一个关键的发育调控基因,其表达水平必须精确调控以确保正常的胚胎发育和成体组织功能。

This gene encodes a member of the TGF-beta family of proteins. The encoded protein is secreted and plays a role in left-right asymmetry determination of organ systems during development. The protein may also play a role in endometrial bleeding. Mutations in this gene have been associated with left-right axis malformations, particularly in the heart and lungs. Some types of infertility have been associated with dysregulated expression of this gene in the endometrium. Alternative processing of this protein can yield three different products. This gene is closely linked to both a related family member and a related pseudogene. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2010]

此基因编码的TGF-β蛋白质家族的一个成员。所编码的蛋白质被分泌和发育过程中起着器官系统的左右不对称判定的作用。蛋白质也可起到的子宫内膜出血的作用。该基因突变与左,右轴畸形,特别是在心脏和肺部。某些类型的不育症已与该基因在子宫内膜的失调表达相关。这种蛋白质的代替处理可产生三种不同的产品。该基因是密切相关的这两个相关的家庭成员和相关的假。这个基因的交替拼接产生在多个转录变体。 [由RefSeq的,2010年2月提供]

LEFTY2基因的碱基序列:[NCBI]
Loading Gene Browser...
LEFTY2基因的碱基突变:           仅显示部分snp
rs12356       rs366439       rs428237       rs429477       rs429638       rs2273405       rs2295418       rs2295419       rs3007716       rs3753673       rs3753674       rs3753675       rs6662343       rs6697182       rs34986398       rs35245900       rs60825997      

LEFTY2基因在不同组织中的表达:    [UniProt]

基因在不同组织中的表达图
正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
CTCAGGGACTATGGAGCTC
59
AATGTACATCTCCTGGCGG
60
CAGGGACTATGGAGCTCAG
59
CAATGTACATCTCCTGGCG
58
CAGGGACTATGGAGCTCAG
59
AATGTACATCTCCTGGCGG
60
      尚未收录相关数据

LEFTY2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

LEFTY2基因的本体(GO)信息:

GO库代码
对应的蛋白质
来源代码
GO:0005160
A0A087X1L7 (UniProtKB)
IEA
GO:0005576
A0A087X1L7 (UniProtKB)
IEA
GO:0008083
A0A087X1L7 (UniProtKB)
IEA
GO:0016049
A0A087X1L7 (UniProtKB)
IEA
GO:0002576
O00292 (UniProtKB)
TAS
GO:0005125
O00292 (UniProtKB)
IBA
GO:0005160
O00292 (UniProtKB)
IBA
GO:0005576
O00292 (UniProtKB)
TAS
GO:0005615
O00292 (UniProtKB)
IBA
GO:0007179
O00292 (UniProtKB)
TAS
GO:0007275
O00292 (UniProtKB)
IEA
GO:0008083
O00292 (UniProtKB)
IEA
GO:0010862
O00292 (UniProtKB)
IBA
GO:0016049
O00292 (UniProtKB)
IEA
GO:0031012
O00292 (UniProtKB)
IDA
GO:0031093
O00292 (UniProtKB)
TAS
GO:0042981
O00292 (UniProtKB)
IBA
GO:0043408
O00292 (UniProtKB)
IBA
GO:0048468
O00292 (UniProtKB)
IBA
GO:0060395
O00292 (UniProtKB)
IBA

可能调控 LEFTY2基因的相关microRNA:     

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
疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Left-Right Axis Malformations 0.12 0 2 CLINVAR
Heterotaxy Syndrome 0.12 1 0 CTD_human
Situs ambiguus 0.12 0 0 ORPHANET
Situs ambiguous 0.12 0 0 ORPHANET
Adenocarcinoma 0.000271442 1 0 BeFree
Endometriosis 0.000271442 1 0 BeFree
Patent ductus arteriosus 0.000271442 1 0 BeFree
Coronary heart disease 0.000271442 1 1 BeFree
Embryonal Carcinoma 0.000271442 1 0 BeFree

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