NOVA2


Description

The NOVA2 (NOVA alternative splicing regulator 2) is a protein-coding gene located on chromosome 19.

NOVA2 (NOVA alternative splicing regulator 2) is a protein found in humans that is encoded by the NOVA2 gene. It functions as an RNA-binding protein that regulates alternative splicing, a process that determines which parts of a gene are included in the final messenger RNA (mRNA) molecule.

NOVA2 is a key regulator of alternative splicing in neurons. It binds to specific RNA sequences (5'-YCAY-3') within pre-mRNA, impacting the inclusion or exclusion of exons. This binding can either block the binding of U1 snRNP, inhibiting exon inclusion, or enhance spliceosome assembly, promoting exon inclusion, depending on the location of the binding site. NOVA2, alongside its counterpart NOVA1, performs unique functions in different brain regions and cell types. It plays a critical role in cortical development by regulating the alternative splicing of axon guidance genes, influencing neuronal network formation. NOVA2 also regulates alternative splicing in a cell-type specific manner, affecting the functionality of transcripts expressed in distinct neurons. For instance, in cortical excitatory neurons, NOVA2 is crucial for laminar structure development, whereas in cerebellar inhibitory neurons, it's vital for motor coordination and synapse formation. Furthermore, NOVA2 can sequester the splicing factor PTBP2 through intron retention, acting as a scaffolding platform for PTBP2.

NOVA2 is also known as ANOVA, NEDASB, NOVA-2, NOVA3.

Associated Diseases



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