Gene table of ELANE : elastase, neutrophil expressed

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ELANE	OMIM link	Number of associated genes	genes
162800	CYCLIC NEUTROPENIA	OMIM, HUMSAVAR	link to OMIM	1	ELANE
PS202700	NEUTROPENIA, SEVERE CONGENITAL	ClinVar, OMIM, HUMSAVAR	link to OMIM	7	ELANE, HAX1, WAS, GFI1, JAGN1, VPS45, G6PC3

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Systemic lupus erythematosus	hsa05322	5.95
Transcriptional misregulation in cancer	hsa05202	5.21

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Activation of Matrix Metalloproteinases	R-HSA-1592389	8.03
Extracellular matrix organization	R-HSA-1474244	4.91
Degradation of the extracellular matrix	R-HSA-1474228	6.11
Collagen degradation	R-HSA-1442490	7.03

Associated GO terms for Molecular function

GO term	GO ID	GO IC
serine-type endopeptidase activity	GO:0004252	4.4
endopeptidase activity	GO:0004175	3.63
cytokine binding	GO:0019955	5.21
enzyme binding	GO:0019899	2.27
transcription factor activity, RNA polymerase II transcription factor binding	GO:0001076	4.84
binding	GO:0005488	0.18
peptidase activity	GO:0008233	3.23
serine-type peptidase activity	GO:0008236	4.27
sulfur compound binding	GO:1901681	4.32
transcriptional repressor activity, RNA polymerase II transcription factor binding	GO:0001191	5.28
transcription corepressor activity	GO:0003714	4.33
transcription cofactor activity	GO:0003712	3.44
transcription factor activity, transcription factor binding	GO:0000989	3.36
transcription factor activity, protein binding	GO:0000988	3.35
hydrolase activity	GO:0016787	1.9
protease binding	GO:0002020	5.08
serine hydrolase activity	GO:0017171	4.26
RNA polymerase II transcription cofactor activity	GO:0001104	5.22
catalytic activity	GO:0003824	1.05
RNA polymerase II transcription corepressor activity	GO:0001106	6.48
heparin binding	GO:0008201	4.68
carbohydrate derivative binding	GO:0097367	2.03
glycosaminoglycan binding	GO:0005539	4.42
peptidase activity, acting on L-amino acid peptides	GO:0070011	3.26
protein binding	GO:0005515	0.46