NELL2
neural EGFL like 2
Summary
The protein encoded by this gene is a glycoprotein containing several von Willebrand factor C domains and epidermal growth factor (EGF)-like domains. The encoded protein acts as a homotrimer and is found in the cytoplasm. Several variants encoding a few different isoforms exist, and at least one isoform appears to be a secreted protein. Studies in mouse suggest that this protein plays a role in neural cell growth and differentiation as well as in oncogenesis. [provided by RefSeq, Feb 2009]
Known Variants48 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2540339478 | 12:44,913,798 | C/T | — | uncertain significance |
| rs145904278 | 12:44,913,858 | A/G | — | uncertain significance |
| rs369537621 | 12:44,913,862 | C/T | — | uncertain significance |
| rs2540339698 | 12:44,913,877 | T/C | — | uncertain significance |
| rs375958961 | 12:44,913,892 | G/A | — | uncertain significance |
| rs141156235 | 12:44,913,930 | G/A | — | uncertain significance |
| rs765900708 | 12:44,915,790 | C/T | — | uncertain significance |
| rs201473536 | 12:44,915,799 | T/A | — | uncertain significance |
| rs764322558 | 12:44,915,903 | A/T | — | uncertain significance |
| rs757446479 | 12:44,915,926 | C/T | — | uncertain significance |
| rs2138985105 | 12:44,915,937 | C/T | — | uncertain significance |
| rs368334753 | 12:44,917,081 | G/A | — | uncertain significance |
| rs1941625030 | 12:44,917,176 | A/C | — | uncertain significance |
| rs757288037 | 12:44,917,186 | C/T | — | uncertain significance |
| rs1040476232 | 12:44,926,372 | G/A | — | uncertain significance |
| rs80147310 | 12:44,926,385 | G/A | — | uncertain significance |
| rs1942127444 | 12:44,926,414 | T/A | — | uncertain significance |
| rs139227921 | 12:44,926,462 | C/T | — | uncertain significance |
| rs149969323 | 12:45,000,996 | A/G | — | uncertain significance |
| rs188047802 | 12:45,001,014 | G/A | — | uncertain significance |
| rs769717858 | 12:45,004,729 | T/C | — | uncertain significance |
| rs141246898 | 12:45,059,299 | C/T | — | uncertain significance |
| rs140706152 | 12:45,059,368 | C/T | — | uncertain significance |
| rs150491663 | 12:45,059,387 | C/A | — | uncertain significance |
| rs2547144990 | 12:45,097,529 | T/A | — | uncertain significance |
| rs369298301 | 12:45,097,554 | G/C | — | uncertain significance |
| rs779593674 | 12:45,097,600 | C/A | — | uncertain significance |
| rs761786823 | 12:45,105,123 | C/G | — | uncertain significance |
| rs1340297683 | 12:45,105,141 | G/T | — | uncertain significance |
| rs754660490 | 12:45,105,149 | G/A | — | uncertain significance |
| rs1410705305 | 12:45,105,156 | C/T | — | uncertain significance |
| rs2547156392 | 12:45,108,447 | G/A | — | uncertain significance |
| rs141376702 | 12:45,138,259 | C/G | intron variant | — |
| rs201334723 | 12:45,168,542 | T/C | — | uncertain significance |
| rs770430231 | 12:45,169,855 | A/G | — | uncertain significance |
| rs746360970 | 12:45,169,872 | G/C | — | uncertain significance |
| rs776807069 | 12:45,171,030 | T/C | — | uncertain significance |
| rs189527076 | 12:45,171,091 | T/G | — | uncertain significance |
| rs138201147 | 12:45,173,777 | G/A | — | uncertain significance |
| rs2136685094 | 12:45,209,815 | G/A | — | uncertain significance |
| rs2547244938 | 12:45,209,892 | G/A | — | uncertain significance |
| rs921186925 | 12:45,209,916 | G/A | — | uncertain significance |
| rs1592694211 | 12:45,269,037 | T/C | — | uncertain significance |
| rs200213264 | 12:45,269,046 | G/A | — | uncertain significance |
| rs2547286233 | 12:45,269,079 | A/G | — | uncertain significance |
| rs769785754 | 12:45,269,125 | C/T | — | uncertain significance |
| rs771884368 | 12:45,269,636 | A/G | — | uncertain significance |
| rs2547287644 | 12:45,269,675 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.