| LBX2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | LBX2, LP3727, ladybird homeobox 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM:607164;MGI:1342288;HomoloGene:36314;GeneCards:LBX2;OMA:LBX2 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Ladybird homeobox 2 (LBX2) is aprotein that is encoded by theLBX2 gene, located on thesecond chromosome[5] inhumans, and on the sixth chromosome inmice.[6]
LBX2 belongs to thehomeobox gene family, which plays important roles in embryonic development and tissue differentiation. The protein encoded by LBX2 functions as atranscription factor and is expressed in various tissues, including the heart, skeletal muscle, and nervous system. LBX2 is involved in the regulation of cardiac development, particularly in the formation of the atrial septum. Mutations or dysregulation of LBX2 have been associated with an increased risk of congenital heart defects, specificallyatrial septal defects.[7]
LBX2 plays a significant role in the development of variousorgans, such as theheart, and has been implicated in the growth of certaincancers.[8]
The LBX2 gene shares similarities with its rodent counterpart, also named LBX2, in genomic structure. Both human and rodent LBX2 genes are composed of twoexons separated by anintron.[5][9]
The upstream region of the mouse LBX2, which shares a high degree of similarity to its human counterpart, has also been observed to be aregulatory sequence that influences the expression ofreporter genes.[10] This regulatory influence is tissue-specific, highlighting the complexity of gene expression in different biological contexts.
LBX2 is a member of the ladybird family ofhomeobox genes, which are crucial in developmental processes. In rodent studies, LBX2 has been found to be expressed in various developing systems, notably theurogenital system,eye, andbrain.[10]
CRISPR/Cas9 technology has been used to create zebrafish models lacking LBX2. Observations of these modified zebrafish revealed several notable differences compared to normal specimens, including:
These findings suggest that LBX2 plays a significant role in the development of theheart.
Whilepolymorphisms in the LBX2 gene have been identified, studies indicate that mutations in the coding region of LBX2 do not account forAlström syndrome, a genetic disorder characterized by ocular and urogenital abnormalities.[10]
A study aimed at identifying causal genes forostium secundum atrial septal defect (ASD) discovered that a raremissense mutation in LBX2 was associated with this condition.[7]
Laboratory studies have indicated that LBX2 promotes rapidcell proliferation inovarian cancers and is a key gene involved inovarian cancer formation. It has been identified as a potential target for therapeutic interventions.[11]
Lung adenocarcinoma (LUAD) is the most common type of lung cancer. Studies have shown that reducing LBX2 expression inhibits LUAD growth, whereas its overexpression promotes tumor growth and invasiveness.[12] In most LUAD cases, LBX2 is expressed at elevated levels, correlating with poor clinical outcomes.[12]
LBX2 is a crucial gene involved in development anddisease processes. Its role in the development of organs, particularly in thecardiac andreproductive systems, alongside its implications incancer biology, emphasise its importance to the healthy development ofhumans,rodents andzebrafish.
