Alternative titles; symbols
HGNC Approved Gene Symbol: ELAVL2
Cytogenetic location: 9p21.3 Genomic coordinates (GRCh38): 9:23,690,104-23,850,601 (from NCBI)
Hel-N1 is an evolutionarily conserved neural-specific RNA-binding protein expressed in neurons of the brain (4:King et al., 1994).
King et al. (1994) cloned rat and human Hel-N1 cDNAs. The human cDNA, symbolized ELAVL2 for 'embryonic lethal abnormal vision-like 2,' encodes a predicted 359-amino acid protein that shows significant similarity to the product of the Drosophila elav gene, the absence of which causes multiple structural defects and hypotrophy of the fly's central nervous system. In situ hybridization of rat tissues demonstrated that the mRNA occurs within a subset of neurons of the hippocampus, cortex, and other areas of the gray matter. Hel-N1 was shown to bind in vitro to the 3-prime untranslated region of an mRNA for Id (600349), an inhibitor of DNA binding. King (1994) showed that alternative splicing of a 91-bp exon produces a longer isoform.
The ELAVL2-homologous gene in the mouse is referred to as Hub. It is one of the tumor antigens that underlie paraneoplastic neurologic disorders (PND), which arise when an immune response to systemic tumors expressing neuronal proteins ('onconeural antigens') develops into an autoimmune neuronal degeneration (Fletcher et al., 1997). It is in the class of neuron-specific RNA-binding proteins.
Han et al. (1996) mapped the ELAVL2 gene to 9p21 by chromosome microdissection PCR and by fluorescence in situ hybridization. Fletcher et al. (1997) demonstrated that the mouse gene maps to mouse chromosome 4 close to the homolog of interferon alpha (147660), which maps to 9p22 in the human genome.
Fletcher, C. F., Okano, H. J., Gilbert, D. J., Yang, Y., Yang, C., Copeland, N. G., Jenkins, N. A., Darnell, R. B. Mouse chromosomal locations of nine genes encoding homologs of human paraneoplastic neurologic disorder antigens. Genomics 45: 313-319, 1997. [PubMed: 9344654] [Full Text: https://doi.org/10.1006/geno.1997.4925]
Han, J., Knops, J. F., Longshore, J. W., King, P. H. Localization of human elav-like neuronal protein 1 (Hel-N1) on chromosome 9p21 by chromosome microdissection polymerase chain reaction and fluorescence in situ hybridization. Genomics 36: 189-191, 1996. [PubMed: 8812435] [Full Text: https://doi.org/10.1006/geno.1996.0444]
King, P. H., Levine, T. D., Fremeau, R. T., Jr., Keene, J. D. Mammalian homologs of Drosophila ELAV localized to a neuronal subset can bind in vitro to the 3' UTR of mRNA encoding the Id transcriptional repressor. J. Neurosci. 14: 1943-52, 1994. [PubMed: 8158249] [Full Text: https://doi.org/10.1523/JNEUROSCI.14-04-01943.1994]
King, P. H. Hel-N2: a novel isoform of Hel-N1 which is conserved in rat neural tissue and produced in early embryogenesis. Gene 151: 261-265, 1994. [PubMed: 7828887] [Full Text: https://doi.org/10.1016/0378-1119(94)90668-8]