NRG2
neuregulin 2
Summary
This gene encodes a novel member of the neuregulin family of growth and differentiation factors. Through interaction with the ERBB family of receptors, this protein induces the growth and differentiation of epithelial, neuronal, glial, and other types of cells. The gene consists of 12 exons and the genomic structure is similar to that of neuregulin 1, another member of the neuregulin family of ligands. The products of these genes mediate distinct biological processes by acting at different sites in tissues and eliciting different biological responses in cells. This gene is located close to the region for demyelinating Charcot-Marie-Tooth disease locus, but is not responsible for this disease. Alternative transcript variants encoding distinct isoforms have been described. [provided by RefSeq, May 2010]
Known Variants82 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1761106765 | 5:139,227,635 | G/A | — | uncertain significance |
| rs201901386 | 5:139,227,654 | C/A | — | uncertain significance |
| rs2479820885 | 5:139,227,656 | C/G | — | likely benign |
| rs13174166 | 5:139,227,681 | T/G | — | uncertain significance |
| rs1298487850 | 5:139,227,687 | C/T | — | uncertain significance |
| rs1387846958 | 5:139,227,779 | G/A | — | uncertain significance |
| rs1412099217 | 5:139,227,785 | C/G | — | uncertain significance |
| rs1310197375 | 5:139,227,786 | G/A | — | uncertain significance |
| rs1353274801 | 5:139,227,792 | G/C | — | uncertain significance |
| rs999727669 | 5:139,227,800 | G/T | — | uncertain significance |
| rs1472797212 | 5:139,227,806 | C/A | — | uncertain significance |
| rs1018332365 | 5:139,227,831 | G/C | — | uncertain significance |
| rs554346679 | 5:139,227,846 | A/G | — | uncertain significance |
| rs1450469151 | 5:139,227,849 | T/C | — | uncertain significance |
| rs951388943 | 5:139,227,858 | A/G | — | uncertain significance |
| rs1761146115 | 5:139,227,869 | G/T | — | uncertain significance |
| rs1280056705 | 5:139,227,876 | G/A | — | uncertain significance |
| rs1486387436 | 5:139,227,878 | C/G | — | uncertain significance |
| rs991737258 | 5:139,227,933 | G/C | — | uncertain significance |
| rs1264856265 | 5:139,227,960 | T/C | — | uncertain significance |
| rs949799052 | 5:139,227,965 | A/G | — | uncertain significance |
| rs1299468245 | 5:139,227,984 | A/C | — | uncertain significance |
| rs924269243 | 5:139,228,005 | G/A | — | uncertain significance |
| rs1761168038 | 5:139,228,052 | G/A | — | uncertain significance |
| rs536701722 | 5:139,228,064 | G/C | — | uncertain significance |
| rs554473987 | 5:139,228,065 | G/A | — | uncertain significance |
| rs2479823879 | 5:139,228,079 | C/G | — | uncertain significance |
| rs1328302939 | 5:139,228,080 | C/G | — | uncertain significance |
| rs1384762616 | 5:139,228,098 | G/T | — | uncertain significance |
| rs1487561258 | 5:139,228,103 | G/A | — | uncertain significance |
| rs746735011 | 5:139,228,181 | G/A | — | uncertain significance |
| rs765292406 | 5:139,228,199 | T/G | — | uncertain significance |
| rs1217829157 | 5:139,228,242 | C/T | — | uncertain significance |
| rs200566705 | 5:139,228,278 | C/A | — | uncertain significance |
| rs149776989 | 5:139,231,211 | G/A | — | uncertain significance |
| rs150122488 | 5:139,231,223 | C/T | — | uncertain significance |
| rs1641214337 | 5:139,231,249 | G/A | — | uncertain significance |
| rs138450353 | 5:139,231,258 | C/T | — | likely benign |
| rs1375183116 | 5:139,231,282 | G/A | — | uncertain significance |
| rs750932133 | 5:139,231,363 | G/A | — | uncertain significance |
| rs545788937 | 5:139,232,092 | T/G | — | uncertain significance |
| rs903605421 | 5:139,232,135 | T/G | — | uncertain significance |
| rs933868228 | 5:139,232,524 | G/A | — | uncertain significance |
| rs150514590 | 5:139,232,581 | G/A | — | uncertain significance |
| rs773872580 | 5:139,235,289 | C/T | — | uncertain significance |
| rs776747736 | 5:139,235,312 | A/C | — | uncertain significance |
| rs1445926672 | 5:139,251,394 | C/T | — | uncertain significance |
| rs757681676 | 5:139,251,402 | G/A | — | uncertain significance |
| rs1322628994 | 5:139,260,450 | C/T | — | uncertain significance |
| rs371194090 | 5:139,260,468 | C/G | — | uncertain significance |
| rs2479970216 | 5:139,266,924 | C/T | — | uncertain significance |
| rs761944120 | 5:139,266,947 | G/A | — | uncertain significance |
| rs756779407 | 5:139,266,991 | C/T | — | uncertain significance |
| rs2479970860 | 5:139,267,012 | C/T | — | uncertain significance |
| rs774596341 | 5:139,267,066 | C/T | — | uncertain significance |
| rs7707751 | 5:139,282,867 | C/T | intron variant | — |
| rs139934873 | 5:139,291,662 | C/T | intron variant | — |
| rs142237244 | 5:139,338,366 | G/A | intron variant | — |
| rs200548250 | 5:139,422,021 | C/T | — | uncertain significance |
| rs2480607704 | 5:139,422,040 | T/G | — | uncertain significance |
| rs2480608652 | 5:139,422,144 | T/G | — | uncertain significance |
| rs2480609364 | 5:139,422,213 | T/C | — | uncertain significance |
| rs981584333 | 5:139,422,222 | T/C | — | uncertain significance |
| rs376804956 | 5:139,422,231 | C/T | — | likely benign |
| rs2480609651 | 5:139,422,239 | A/G | — | likely benign |
| rs2480610062 | 5:139,422,270 | C/A | — | uncertain significance |
| rs1308970374 | 5:139,422,357 | C/T | — | uncertain significance |
| rs780587282 | 5:139,422,411 | C/T | — | uncertain significance |
| rs1282321901 | 5:139,422,420 | G/A | — | uncertain significance |
| rs906070366 | 5:139,422,437 | G/A | — | uncertain significance |
| rs752169789 | 5:139,422,438 | G/T | — | uncertain significance |
| rs1431002225 | 5:139,422,468 | G/C | — | uncertain significance |
| rs1220075699 | 5:139,422,500 | T/C | — | likely benign |
| rs757010426 | 5:139,422,511 | C/G | — | likely benign |
| rs1762063468 | 5:139,422,514 | G/C | — | uncertain significance |
| rs1005893540 | 5:139,422,525 | C/T | — | likely benign |
| rs2480614860 | 5:139,422,564 | C/G | — | uncertain significance |
| rs776842489 | 5:139,422,576 | T/C | — | uncertain significance |
| rs1762078794 | 5:139,422,593 | C/T | — | uncertain significance |
| rs188534354 | 5:139,422,602 | C/T | — | conflicting classifications of pathogenicity |
| rs2480615379 | 5:139,422,605 | C/G | — | likely benign |
| rs2480615856 | 5:139,422,650 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.