ELANE

Chr 19p13.3

elastase, neutrophil expressed

Aliases:: NE, HNE, HLE, PMN-E
MANE:: ENST00000263621.2

OMIM: 130130 ↗NCBI: 1991 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

ELANE · P08246

v62025-08-01

Predicted Aligned Error matrix for ELANE — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

88.2/ 100

Confident

267 residues

Confidence breakdown

Very high(≥ 90)76%
Confident(70–90)8%
Low(50–70)11%
Very low(< 50)6%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cytopenia - NOT Fanconi anaemia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cytopenias and congenital anaemias
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Haematological malignancies cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Haematological malignancies for rare disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neutropaenia consistent with ELANE mutations
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Periodic fever syndromes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

cyclic hematopoiesis
0.83
neutropenia, severe congenital, 1, autosomal dominant
0.83
Cyclic neutropenia
0.83
autosomal dominant severe congenital neutropenia
0.67
neutropenia
0.59
Decreased total neutrophil count
0.59
pulmonary emphysema
0.56
Alpha-1-antitrypsin deficiency
0.54
severe congenital neutropenia
0.54
alpha 1-antitrypsin deficiency
0.53

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Neutrophil elastase

Serine protease that modifies the functions of natural killer cells, monocytes and granulocytes (PubMed:15140022). Shows microbicidal activity in neutrophils by mediating cleavage and degradation of bacterial proteins (PubMed:10947984, PubMed:25161283). Capable of killing E.coli but not S.aureus in vitro; digests outer membrane protein A (ompA) in E.coli and K.pneumoniae (PubMed:10947984). Involved for the formation of neutrophil extracellular traps (NETs): translocates into the nucleus downstream of MPO and mediates degadation of histone H4, thereby participating to chromatin decondensation (PubMed:20974816, PubMed:25066128, PubMed:28574339). NETs are mainly composed of DNA fibers and are released by neutrophils to trap pathogens during inflammation (PubMed:20974816, PubMed:25066128, PubMed:28574339). Inhibits C5a-dependent neutrophil enzyme release and chemotaxis (PubMed:15140022). Promotes cleavage of GSDMB, thereby inhibiting pyroptosis (PubMed:36899106). Promotes blood coagulation (PubMed:20676107). Through the activation of the platelet fibrinogen receptor integrin alpha-IIb/beta-3, potentiates platelet aggregation induced by a threshold concentration of cathepsin G (CTSG) (PubMed:25211214, PubMed:9111081). Cleaves and thus inactivates tissue factor pathway inhibitor (TFPI) (PubMed:20676107, PubMed:25211214)