Information on ELANE
Alt. symbols: ELA2 | NE | HNE | HLE
Approved name: elastase, neutrophil expressed
Alt. names: elastase 2, neutrophil | neutrophil elastase, leukocyte elastase, medullasin
Location: 19p13.3: 851014 - 856247 (+)
Gene type: protein_coding, 2 transcripts.
Scores: LoFtool: 0.012400 | pLI: 0.76720723 | LOEUF: 1.129
Gene Ontology (GO)
- Molecular function: serine-type endopeptidase activity [GO:0004252]
- Cell component: extracellular space [GO:0005615]
- Biological process: acute inflammatory response to antigenic stimulus [GO:0002438]; phagocytosis [GO:0006909]; proteolysis [GO:0006508]
Normal function
Dysfunction and disease
Neutropenia, severe congenital 1, autosomal dominant [MIM:202700] | Neutropenia, cyclic [MIM:162800] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
SCN1 |
Severe congenital neutropenia 1 | AD |
202700 |
0 (0 fams) | |
| NPc |
Neutropenia, cyclic | AD |
162800 |
0 (0 fams) |
Please mind that curation (inclusion of all reported patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of ELANE
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 202 | ENST00000590230.5 | CCDS12045 | protein_coding | 6 | No | 1028 | XM_054320146 | ||
| 201 | ENST00000263621.2 | 1 | CCDS12045 | Select | protein_coding | 5 | Yes | 909 | NM_001972 |
Published variants
Found 0 variants
| Var.name ⓘ | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that curation (inclusion of all reported gene variants) has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in ELANE
Please mind that curation (inclusion of all relevant literature) has not started yet. Please contact us if you want to volunteer.
| ID | Year | Title | Journal | PMID | Variants |
|---|