MGSSHHHHHH SSGLVPRGSH MGSMETQLSN GPTCNNTANG PTTINNNCSS PVDSGNTEDS KTNLIVNYLP QNMTQEELKS LFGSIGEIES CKLVRDKITG QSLGYGFVNY IDPKDAEKAI NTLNGLRLQT KTIKVSYARP SSASIRDANL YVSGLPKTMT QKELEQLFSQ YGRIITSRIL VDQVTGISRG VGFIRFDKRI EAEEAIKGLN GQKPPGATEP ITVKFANNPS QKTNQAILSQ LYQSPNRRYP GPLAQQAQRF RFSPMTIDGM TSLAGINIPG HPGTGWCIFV YNLAPDADES ILWQMFGPFG AVTNVKVIRD FNTNKCKGFG FVTMTNYDEA AMAIASLNGY RLGDRVLQVS FKTNKTHKA.
The ELAVL2 gene encodes a protein consisting of 359 amino acids . This protein shows significant similarity to the product of the Drosophila elav gene, which is crucial for the proper development of the central nervous system in flies . The human ELAVL2 protein binds to AU-rich elements in the 3’ untranslated regions (3’ UTRs) of target mRNAs, thereby regulating gene expression post-transcriptionally .
ELAVL2 is primarily expressed in neurons and localizes to the cytoplasm . It binds to several 3’ UTRs, including its own, as well as those of FOS, ID, and POU5F1 . The protein recognizes a GAAA motif in the RNA . By binding to these regions, ELAVL2 plays a critical role in the regulation of mRNA stability and translation, which are essential processes for neuronal function and development .
ELAVL2 is involved in various aspects of neuronal function, including neuronal excitability and synaptic transmission . These functions are crucial for normal brain activity, cognition, and behavior. Research has shown that ELAVL2-regulated transcriptional and splicing networks are linked to neurodevelopmental disorders such as autism spectrum disorder (ASD) . Reduced expression of ELAVL2 in human neurons has been associated with altered splicing and differential expression of genes relevant to ASD .
Understanding the role of ELAVL2 in neuronal function and its involvement in neurodevelopmental disorders is essential for developing better diagnostic methods and therapeutic strategies. The protein’s ability to regulate gene expression post-transcriptionally makes it a potential target for interventions aimed at correcting dysregulated gene expression in neurological conditions .