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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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LEFTY2
left-right determination factor 2
Chromosome 1 · 1q42.12
NCBI Gene: 7044Ensembl: ENSG00000143768.13HGNC: HGNC:3122UniProt: O00292
39PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular matrixcytokine activityanterior/posterior axis specificationBMP signaling pathwayleft-right axis malformationsHeterotaxiavisceral heterotaxyheterotaxy, visceral, 12, autosomal
✦AI Summary

LEFTY2 is a TGF-β superfamily member that functions as a negative regulator of left-right axis determination and endometrial receptivity. Developmentally, LEFTY2 is expressed in the anterior visceral endoderm during early primate gastrulation and plays a critical role in axis patterning 1. Mutations in LEFTY2 are associated with situs inversus totalis and heterotaxy, disorders characterized by reversed or randomized organ asymmetry 2. Mechanistically, LEFTY2 functions through multiple signaling pathways. In embryonic stem cells, optimal LEFTY2 expression controls the balance between self-renewal and differentiation by regulating Smad2 phosphorylation 3. In endometrial tissues, LEFTY2 inhibits receptivity by downregulating Orai1 expression and store-operated calcium entry (SOCE), suppressing expression of receptivity genes including Cox2, Bmp2, and Wnt4 4. LEFTY2 also antagonizes trypsin-induced calcium signaling through L-type calcium channels 5. Clinically, LEFTY2 dysregulation is implicated in unexplained infertility and endometrial cancer progression. In endometrial carcinoma cells, LEFTY2 suppresses migration and proliferation by inhibiting focal adhesion kinase (FAK) activity and upregulating miR-200a and E-cadherin 6. Additionally, LEFTY2 alleviates hepatic fibrosis by inhibiting the TGF-β1/Smad3 pathway and hepatic stellate cell activation 7. These findings suggest LEFTY2 represents a potential therapeutic target for reproductive and fibrotic diseases.

Sources cited
1
LEFTY2 is expressed in anterior visceral endoderm during early primate gastrulation and is involved in axis formation
PMID: 35709828
2
Mutations in genes controlling left-right axis formation, including those affecting LEFTY2 signaling, cause situs inversus and heterotaxy
PMID: 38884744
3
Lefty2 controls the balance between self-renewal and differentiation in embryonic stem cells via Smad2 phosphorylation
PMID: 24147624
4
LEFTY2 inhibits endometrial receptivity by downregulating Orai1 and store-operated calcium entry, blocking expression of Cox2, Bmp2, and Wnt4
PMID: 29230527
5
LEFTY2 blocks trypsin-induced calcium entry in endometrial cells by downregulating L-type calcium channels
PMID: 40510743
6
LEFTY2 suppresses endometrial cancer cell migration and proliferation by inhibiting FAK activity and upregulating miR-200a and E-cadherin
PMID: 27497669
7
LEFTY2 alleviates liver fibrosis by inhibiting TGF-β1/Smad3 signaling and hepatic stellate cell activation
PMID: 32745796
8
LEFTY2 is an embryo anteriorization factor that can induce DNA replication stress and chromosome missegregation during early development
PMID: 41879524
Disease Associationsⓘ21
left-right axis malformationsOpen Targets
0.48Moderate
HeterotaxiaOpen Targets
0.23Weak
visceral heterotaxyOpen Targets
0.23Weak
heterotaxy, visceral, 12, autosomalOpen Targets
0.07Suggestive
Congenitally uncorrected transposition of the great arteriesOpen Targets
0.06Suggestive
Ivemark syndromeOpen Targets
0.06Suggestive
scimitar syndromeOpen Targets
0.06Suggestive
congenital heart diseaseOpen Targets
0.06Suggestive
ciliary dyskinesia, primary, 52Open Targets
0.06Suggestive
right atrial isomerismOpen Targets
0.06Suggestive
tricuspid atresiaOpen Targets
0.06Suggestive
primary ciliary dyskinesiaOpen Targets
0.06Suggestive
congenital heart defects, multiple types, 6Open Targets
0.05Suggestive
congenital heart malformationOpen Targets
0.05Suggestive
heterotaxy, visceral, 5, autosomalOpen Targets
0.05Suggestive
Aortic CoarctationOpen Targets
0.05Suggestive
ciliary dyskinesia, primary, 40Open Targets
0.05Suggestive
congenital heart defects, multiple types, 4Open Targets
0.05Suggestive
congenital heart defects, multiple types, 9Open Targets
0.05Suggestive
persistent truncus arteriosusOpen Targets
0.05Suggestive
Left-right axis malformationsUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SOX2Protein interaction100%PITX2Protein interaction97%ZIC3Protein interaction95%ACVR2AProtein interaction93%ACVR2BProtein interaction93%TGFB1Protein interaction93%
Tissue Expression6 tissues
Ovary
100%
Heart
12%
Lung
4%
Brain
4%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
LEFTY2SOX2PITX2ZIC3ACVR2AACVR2BTGFB1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O00292
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.70LoF Tolerant
pLIⓘ
0.35Tolerant
Observed/Expected LoF0.40 [0.24–0.70]
RankingsWhere LEFTY2 stands among ~20K protein-coding genes
  • #10,347of 20,598
    Most Researched39
  • #5,364of 17,882
    Most Constrained (LOEUF)0.70
Genes detectedLEFTY2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Spatial profiling of early primate gastrulation in utero.
PMID: 35709828
Nature · 2022
1.00
2
Human Genetics of Defects of Situs.
PMID: 38884744
Adv Exp Med Biol · 2024
0.90
3
LEFTY2 Controls Migration of Human Endometrial Cancer Cells via Focal Adhesion Kinase Activity (FAK) and miRNA-200a.
PMID: 27497669
Cell Physiol Biochem · 2016
0.80
4
LEFTY2 alleviates hepatic stellate cell activation and liver fibrosis by regulating the TGF-β1/Smad3 pathway.
PMID: 32745796
Mol Immunol · 2020
0.70
5
Lefty1 and lefty2 control the balance between self-renewal and pluripotent differentiation of mouse embryonic stem cells.
PMID: 24147624
Stem Cells Dev · 2014
0.60