HBEGF
heparin binding EGF like growth factor
Summary
Enables growth factor activity; heparin binding activity; and transmembrane receptor protein tyrosine kinase activator activity. Involved in several processes, including epidermal growth factor receptor signaling pathway; positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; and positive regulation of wound healing. Located in cell surface. Is active in extracellular space. Implicated in glomerulosclerosis and perinatal necrotizing enterocolitis. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs13385 | 5:139,712,878 | G/A | 3 prime UTR variant | — |
| rs2479801466 | 5:139,714,296 | C/T | — | uncertain significance |
| rs372966735 | 5:139,715,476 | C/T | — | uncertain significance |
| rs4912711 | 5:139,718,525 | G/T | intron variant | — |
| rs58992612 | 5:139,720,211 | C/A | intron variant | — |
| rs4150214 | 5:139,721,458 | C/A | regulatory region variant | — |
| rs4150211 | 5:139,721,808 | T/A | intron variant | — |
| rs4150210 | 5:139,721,913 | T/A | regulatory region variant | — |
| rs746100583 | 5:139,722,290 | G/A | — | uncertain significance |
| rs988422901 | 5:139,722,293 | G/A | — | uncertain significance |
| rs750816369 | 5:139,725,505 | G/T | — | uncertain significance |
| rs201983159 | 5:139,725,534 | A/G | — | uncertain significance |
| rs373554879 | 5:139,725,597 | G/A | — | likely benign |
| rs1766399705 | 5:139,725,866 | A/G | — | uncertain significance |
| rs2479815408 | 5:139,725,877 | G/T | — | uncertain significance |
| rs4150197 | 5:139,726,292 | C/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.