ELAVL2

Chr 9

ELAV like RNA binding protein 2

Also known as: HEL-N1, HELN1, HUB

NCBI Gene: 1993 ENSG00000107105 UniProt: Q12926 OMIM: 601673

ELAVL2 encodes a neuron-specific RNA-binding protein that regulates gene expression by binding to AU-rich elements in the 3' untranslated regions of target mRNAs, including its own transcript and those of FOS, ID, and POU5F1. Mutations cause autosomal dominant or recessive neurodevelopmental disorders with epilepsy, intellectual disability, and movement abnormalities. The gene is highly constrained against loss-of-function variants, indicating that ELAVL2 function is critical for normal neuronal development and function.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

In humans, the ELAV like RNA binding protein gene family has four members (ELAVL1-4). ELAVL RNA binding proteins recognize AU-rich elements in the 3' UTRs of gene transcripts and thereby regulate gene expression post-transcriptionally. The protein encoded by this gene binds to several 3' UTRs, including its own and also that of FOS, ID, and POU5F1. This gene encodes ELAVL2 and, like ELAVL3 and ELAVL4, is expressed specifically in neurons and primarily localizes to the cytoplasm. This protein also forms a cytosolic complex with the normally nuclear-localized ELAVL1 protein. Alternative splicing of this gene results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Jul 2020]

GeneReviews OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

LOF

Mechanism· predicted

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