ELAVL2
ELAV like RNA binding protein 2
Summary
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]
Known Variants24 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs972436507 | 9:23,692,803 | T/C | — | uncertain significance |
| rs751239055 | 9:23,692,844 | G/A | — | uncertain significance |
| rs1322318054 | 9:23,701,399 | C/T | — | uncertain significance |
| rs1045462141 | 9:23,701,404 | G/T | — | uncertain significance |
| rs762174611 | 9:23,701,413 | T/C | — | uncertain significance |
| rs1416580522 | 9:23,701,423 | T/C | — | uncertain significance |
| rs1587324233 | 9:23,701,433 | G/C | — | uncertain significance |
| rs778851944 | 9:23,701,447 | G/A | — | uncertain significance |
| rs2489973950 | 9:23,701,482 | G/C | — | uncertain significance |
| rs2037213626 | 9:23,701,519 | G/T | — | uncertain significance |
| rs11790555 | 9:23,703,152 | T/C | intron variant | — |
| rs1465843553 | 9:23,731,091 | T/C | — | uncertain significance |
| rs1442715870 | 9:23,762,097 | G/C | — | uncertain significance |
| rs756279278 | 9:23,762,127 | C/T | — | uncertain significance |
| rs146832864 | 9:23,762,156 | G/A | — | uncertain significance |
| rs1298737540 | 9:23,762,186 | T/C | — | uncertain significance |
| rs2490478981 | 9:23,762,225 | G/A | — | uncertain significance |
| rs959091 | 9:23,775,449 | A/G | intron variant | — |
| rs702222 | 9:23,805,569 | C/T | intron variant | — |
| rs111747805 | 9:23,822,013 | A/G | regulatory region variant | — |
| rs55863203 | 9:23,827,667 | C/G | upstream gene variant | — |
| rs10811973 | 9:23,831,902 | A/G | intron variant | — |
| rs10966095 | 9:23,835,264 | C/T | — | — |
| rs12375898 | 9:23,843,293 | G/A | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.