EREG
epiregulin
Summary
This gene encodes a secreted peptide hormone and member of the epidermal growth factor (EGF) family of proteins. The encoded protein is a ligand of the epidermal growth factor receptor (EGFR) and the structurally related erb-b2 receptor tyrosine kinase 4 (ERBB4). The encoded protein may be involved in a wide range of biological processes including inflammation, wound healing, oocyte maturation, and cell proliferation. Additionally, the encoded protein may promote the progression of cancers of various human tissues. [provided by RefSeq, Jul 2015]
Known Variants9 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4694681 | 4:75,243,559 | T/C | regulatory region variant | — |
| rs369290734 | 4:75,245,185 | G/A | — | uncertain significance |
| rs1297778918 | 4:75,246,743 | A/G | — | uncertain significance |
| rs529424022 | 4:75,246,752 | G/A | — | uncertain significance |
| rs145916659 | 4:75,246,762 | A/T | — | uncertain significance |
| rs2475837906 | 4:75,248,429 | A/G | — | uncertain significance |
| rs376459248 | 4:75,248,430 | A/G | — | uncertain significance |
| rs35275884 | 4:75,250,455 | G/A | — | benign |
| rs145342792 | 4:75,250,515 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.