LEFTY2

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]

Description

Left-right determination factor 2

Tissue specificity

Tissue enhanced (cervix, endometrium)

Predicted location

Secreted in other tissues

Protein family

Disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted secreted proteins

Chromosome

1 (225936598 - 225941383)

Ensembl ID

ENSG00000143768  (ver. 103.38)

Orthologs

-

UniProt

O00292

neXtProt

NX_O00292

Human splice variants

Protein structure