LEFTY2 - left-right determination factor 2 Gene
Also Known as EBAF; LEFTA; TGFB4; LEFTYA
Species: Homo sapiens
About LEFTY2
This gene has 3 transcripts (splice variants), 284 orthologues, 31 paralogues and is associated with 2 phenotypes. Biased expression in endometrium (RPKM 129.5) and ovary (RPKM 10.7).
Summary
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of Smad Family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which 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. This gene is closely linked to both a related family member and a related pseudogene. This gene encodes multiple isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]
LEFTY2 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001172425.3 | NP_001165896.1 | left-right determination factor 2 isoform 2 precursor |
| NM_003240.5 | NP_003231.2 | left-right determination factor 2 isoform 1 preproprotein |
LEFTY2 Protein Structure
TGFb_propeptide: TGF-beta propeptide (25 - 213)
TGF_beta: Transforming growth factor beta like domain (262 - 302)
- 0
- 100
- 200
- 300
- 366 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
left-right determination factor 2 |
|
Recombinant LEFTY2 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P70191 | Lefty-A/TGF-beta 4 Protein, Human (HEK293, His) | O00292 (L22-K76)&O00292 (F78-P366) | ≥ 95%, as determined by reducing SDS-PAGE. |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Complete Atrioventricular Canal |
|
|
| Visceral Heterotaxy |
|
|
| Infertility |
|
|
| Right Atrial Isomerism |
|
|
| Joubert Syndrome 18 |
|
|
| Extraocular Retinoblastoma |
|
|
| Endometriosis |
|
|
| Lumbosacral Lipoma |
|
|
| Cardiomyopathy, Dilated, 1x |
|
|
| Pulmonary Valve Disease |
|
|
| Atrioventricular Septal Defect |
|
|
| Double Outlet Right Ventricle |
|
|
| Kartagener Syndrome |
|
|
| Heart Septal Defect |
|
|
| Ventricular Septal Defect |
|
|
| Situs Inversus |
|
|
| Meckel Syndrome, Type 1 |
|
|
| Patent Ductus Arteriosus 1 |
|
|
| Primary Ciliary Dyskinesia |
|
|
| Atrial Heart Septal Defect |
|
|
| Tetralogy Of Fallot |
|
|
| Rasopathy |
|
|
| Retinitis Pigmentosa |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | LEFTY2 | MGD | MGI:2443573 |
| Others | LEFTY2 | NCBI |