| GENE NAME | ELANE |
| CHROMOSOME | 19 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000197561 |
| UNIPROT ACCESSION NUMBER | P08246 |
| GO MOLECULAR FUNCTION | ['endopeptidase activity', 'heparin binding', 'serine-type endopeptidase activity', 'protein binding', 'protease binding', 'transcription corepressor activity', 'peptidase activity', 'cytokine binding'] |
| ESSENTIAL IN MOUSE | Non-essential |
| PATHWAYS | hsa04613; hsa05202; hsa05322; R-HSA-1442490; R-HSA-1474228; R-HSA-1474244; R-HSA-1592389; R-HSA-166658; R-HSA-168249; R-HSA-168256; R-HSA-6798695; R-HSA-6803157; R-HSA-977606 |
| 1 combination linked to ELANE | OLI1793 |
| 1 variant linked to ELANE | ELANE:c.74C>T, p.Ala25Val |
| 1 disease linked to ELANE | Severe congenital neutropenia |