Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1991
Gene name	Elastase, neutrophil expressed
Gene symbol	ELANE
Synonyms (NCBI Gene)	ELA2GEHLEHNENEPMN-ESCN1
Chromosome	19
Chromosome location	19p13.3
Summary	Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode structurally similar proteins. The encoded preproprotein is proteolytically processed to generate the active pr

Show/Hide all (40)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28931611	T>C	Pathogenic	Coding sequence variant, missense variant
rs57246956	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs137854445	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs137854446	G>C,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137854447	C>A,G,T	Pathogenic	Coding sequence variant, missense variant
rs137854448	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137854449	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs137854450	C>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic, likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs137854451	G>A	Pathogenic	Coding sequence variant, missense variant
rs140880838	G>A	Pathogenic	Missense variant, coding sequence variant
rs199558534	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs199659114	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201117839	G>A	Pathogenic, uncertain-significance	Splice acceptor variant
rs267606781	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs387906553	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs568474579	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs730880095	C>G	Likely-pathogenic	Intron variant
rs745455816	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs754277797	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs797045007	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs797045009	C>A	Pathogenic	Coding sequence variant, stop gained
rs878855315	G>T	Pathogenic	Missense variant, coding sequence variant
rs878855317	C>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs878855319	T>C	Pathogenic	Missense variant, coding sequence variant
rs878855320	C>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs878855321	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs879253882	G>A	Likely-pathogenic, pathogenic	Intron variant
rs879255272	AAACTTGCTCAACGACATCGTGAT>-	Pathogenic	Coding sequence variant, inframe deletion
rs1057518191	->GG	Pathogenic	Coding sequence variant, splice acceptor variant
rs1057520110	C>T	Pathogenic	Coding sequence variant, missense variant
rs1064793108	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1085307717	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691882	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1468631555	->CCATAACCTCTC	Likely-pathogenic	Coding sequence variant, inframe insertion
rs1555709349	TCCCTG>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1555709367	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555710005	G>A,C	Pathogenic	Splice donor variant
rs1555710077	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555710089	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1599294750	C>A	Pathogenic	Coding sequence variant, stop gained

Show/Hide all (8)

Transcription factor	Regulation	Reference
CEBPA	Activation	19620402
CEBPA	Unknown	16247445
GFI1	Unknown	18328744
LEF1	Activation	14594802;19620402
MYB	Unknown	16247445
RUNX1	Unknown	16247445
RUNX2	Activation	14594802
SPI1	Unknown	14732495;16247445

Show/Hide all (65)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	19506020
GO:0001878	Process	Response to yeast	IEA
GO:0002020	Function	Protease binding	IPI	6980881
GO:0002438	Process	Acute inflammatory response to antigenic stimulus	IBA
GO:0002438	Process	Acute inflammatory response to antigenic stimulus	IEA
GO:0002523	Process	Leukocyte migration involved in inflammatory response	IEA
GO:0002812	Process	Biosynthetic process of antibacterial peptides active against Gram-negative bacteria	IDA	20421939
GO:0003714	Function	Transcription corepressor activity	IMP	19506020
GO:0004175	Function	Endopeptidase activity	IDA	6980881, 12887060
GO:0004252	Function	Serine-type endopeptidase activity	EXP	29539421
GO:0004252	Function	Serine-type endopeptidase activity	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IDA	36899106
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0004252	Function	Serine-type endopeptidase activity	TAS
GO:0005515	Function	Protein binding	IPI	12114510, 12223522, 14688365, 16321984, 19506020, 21979170, 25211214, 33748632
GO:0005576	Component	Extracellular region	NAS	12114510
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	20421939, 25645918
GO:0005737	Component	Cytoplasm	IDA	19506020
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IDA	11907569
GO:0006508	Process	Proteolysis	IDA	20421939
GO:0006508	Process	Proteolysis	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	NAS	15140022
GO:0006909	Process	Phagocytosis	IBA
GO:0006909	Process	Phagocytosis	IEA
GO:0008201	Function	Heparin binding	IDA	11907569
GO:0008233	Function	Peptidase activity	IDA	11907569, 20421939
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0009411	Process	Response to UV	IDA	11928814
GO:0009986	Component	Cell surface	IDA	12114510
GO:0016787	Function	Hydrolase activity	IEA
GO:0017053	Component	Transcription repressor complex	IDA	19506020
GO:0019955	Function	Cytokine binding	IPI	12393522
GO:0022617	Process	Extracellular matrix disassembly	TAS
GO:0030141	Component	Secretory granule	IDA	11907569
GO:0030163	Process	Protein catabolic process	NAS	12887060
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28344315
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0032682	Process	Negative regulation of chemokine production	IDA	12223522
GO:0032717	Process	Negative regulation of interleukin-8 production	IDA	12223522
GO:0032757	Process	Positive regulation of interleukin-8 production	IDA	14730209
GO:0035578	Component	Azurophil granule lumen	IEA
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0035580	Component	Specific granule lumen	TAS
GO:0042742	Process	Defense response to bacterium	IDA	14705961
GO:0043406	Process	Positive regulation of MAP kinase activity	NAS	14730209
GO:0045335	Component	Phagocytic vesicle	IEA
GO:0048661	Process	Positive regulation of smooth muscle cell proliferation	IDA	15010259
GO:0050728	Process	Negative regulation of inflammatory response	NAS	15140022
GO:0050778	Process	Positive regulation of immune response	IEA
GO:0050832	Process	Defense response to fungus	IEA
GO:0050900	Process	Leukocyte migration	IEA
GO:0050922	Process	Negative regulation of chemotaxis	NAS	15140022
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070269	Process	Pyroptotic inflammatory response	TAS
GO:0070945	Process	Neutrophil-mediated killing of gram-negative bacterium	IDA	20421939
GO:0070947	Process	Neutrophil-mediated killing of fungus	IEA
GO:1903238	Process	Positive regulation of leukocyte tethering or rolling	IEA

MIM	HGNC	e!Ensembl
130130	3309	ENSG00000197561

P08246

Protein name

Neutrophil elastase (EC 3.4.21.37) (Bone marrow serine protease) (Elastase-2) (Human leukocyte elastase) (HLE) (Medullasin) (PMN elastase)

Protein function

Serine protease that modifies the functions of natural killer cells, monocytes and granulocytes. Inhibits C5a-dependent neutrophil enzyme release and chemotaxis (PubMed:15140022). Promotes cleavage of GSDMB, thereby inhibiting pyroptosis (PubMed

PDB

1B0F , 1H1B , 1HNE , 1PPF , 1PPG , 2RG3 , 2Z7F , 3Q76 , 3Q77 , 4NZL , 4WVP , 5A09 , 5A0A , 5A0B , 5A0C , 5A8X , 5A8Y , 5A8Z , 5ABW , 6E69 , 6F5M , 6SMA , 7CBK , 7WHU , 8D4Q , 8D4U , 8D7I , 8D7K , 8G24 , 8G25 , 8G26 , 8QGX , 8VK5 , 9ASS , 9ASX , 9ATK , 9ATU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00089	Trypsin	30 → 242	Trypsin	Domain

Tissue specificity

TISSUE SPECIFICITY: Bone marrow cells. Neutrophil (PubMed:10947984). {ECO:0000269|PubMed:10947984}.

Sequence

MTLGRRLACLFLACVLPALLLGGTALASEIVGGRRARPHAWPFMVSLQLRGGHFCGATLI
APNFVMSAAHCVANVNVRAVRVVLGAHNLSRREPTRQVFAVQRIFENGYDPVNLLNDIVI
LQLNGSATINANVQVAQLPAQGRRLGNGVQCLAMGWGLLGRNRGIASVLQELNVTVVTSL
CRRSNVCTLVRGRQAGVCFGDSGSPLVCNGLIHGIASFVRGGCASGLYPDAFAPVAQFVN
WIDSIIQRSEDNPCPHPRDPDPASRTH

Sequence length

267

Interactions

View interactions

	KEGG		Reactome
	Neutrophil extracellular trap formation Transcriptional misregulation in cancer Systemic lupus erythematosus		Degradation of the extracellular matrix Activation of Matrix Metalloproteinases Neutrophil degranulation Antimicrobial peptides Regulation of Complement cascade

957

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autoinflammatory syndrome	Likely pathogenic; Pathogenic	rs2145144118, rs2145143911, rs137854447	RCV002264613 RCV002264621 RCV002262567
Cyclical neutropenia	Likely pathogenic; Pathogenic	rs2035673569, rs2035675760, rs2145149815, rs879253882, rs2145149748, rs2145142832, rs762470485, rs1429051935, rs2145144144, rs2145149526, rs200752339, rs730880095, rs2512164486, rs2512164614, rs137854448 View all (28 more)	RCV001796439 RCV001796457 RCV001796460 RCV001796472 RCV001796473 RCV001885394 RCV001845041 RCV001874769 RCV002028317 RCV001991511 RCV001896973 RCV000157220 RCV003050505 RCV003050506 RCV003326644 RCV002601841 RCV005222818 RCV002816182 RCV002815954 RCV003140415 RCV003140483 RCV001795378 RCV000018225 RCV002518421 RCV000018226 RCV003783724 RCV003783728 RCV003788031 RCV003807955 RCV003805974 RCV003801390 RCV000018222 RCV000018223 RCV001794455 RCV001794456 RCV002472320 RCV001336413 RCV001865281 RCV001796069 RCV001796160 RCV001796218 RCV000990117 RCV000990119 RCV001796346 RCV001796353 RCV001796350 RCV001796396 RCV001880158
Decreased total neutrophil count	Likely pathogenic; Pathogenic	rs2512168136, rs879253882	RCV002466859 RCV001003809
ELANE-related disorder	Pathogenic; Likely pathogenic	rs1555710005, rs1131691882, rs1599290793, rs1064793108, rs745455816	RCV003919992 RCV003391363 RCV003416669 RCV003401512 RCV003392305
Neutropenia, severe congenital, 1, autosomal dominant	Likely pathogenic; Pathogenic	rs2035673569, rs2035675760, rs2145149815, rs879253882, rs2145149748, rs1555710089, rs57246956, rs2145148969, rs2145142832, rs762470485, rs1429051935, rs2145144144, rs2145149526, rs200752339, rs2145145135 View all (28 more)	RCV001796439 RCV001796457 RCV001796460 RCV001796472 RCV001796473 RCV001732835 RCV001824261 RCV001824553 RCV001885394 RCV003772372 RCV001874769 RCV002028317 RCV001991511 RCV001896973 RCV002260543 RCV003050505 RCV003050506 RCV003064526 RCV002601841 RCV000190507 RCV002816182 RCV002815954 RCV003227729 RCV001795378 RCV001267759 RCV002518421 RCV001795382 RCV003783724 RCV003783728 RCV003788031 RCV003807955 RCV003805974 RCV003801390 RCV001794454 RCV001794455 RCV001794456 RCV000018230 RCV000018232 RCV001865281 RCV001796069 RCV001332066 RCV001796218 RCV001858720 RCV001796346 RCV001796353 RCV001796350 RCV001796396 RCV001880158

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs137854449	-
Acute myeloid leukemia	Likely benign	rs17223024	RCV005905389
Hereditary angioedema with normal C1Inh	not provided	rs1599294997	RCV001027425
X-linked severe congenital neutropenia	Conflicting classifications of pathogenicity	rs201117839	RCV000215566

Show/Hide Text Mining Associations (134)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute Kidney Injury	Associate	22098946
Acute On Chronic Liver Failure	Associate	34552111
Adenocarcinoma	Associate	26177797, 27927741
alpha 1 Antitrypsin Deficiency	Associate	1653278, 28408179, 30633749, 38087060, 7028785
alpha 1 Antitrypsin Deficiency	Inhibit	33556558, 3500183
alpha 1 Antitrypsin Deficiency Autosomal Recessive	Associate	1541671
Anemia Hemolytic Autoimmune	Associate	37118811
Angioedemas Hereditary	Associate	26654922
Anti Neutrophil Cytoplasmic Antibody Associated Vasculitis	Associate	37118811
Aortic Aneurysm Thoracic	Stimulate	30957625
Arthritis	Associate	28881492, 34270864
Arthritis Rheumatoid	Associate	24928093
Autoimmune Diseases	Associate	15457464, 37118811
Bacterial Infections	Associate	14962902
Behcet Syndrome	Associate	11456109, 32580239
beta Thalassemia	Associate	10629570
Bipolar Disorder	Associate	37147304
Blister	Associate	11710917, 22991566, 24945093, 29025244
Breast Neoplasms	Associate	12671709, 22564522, 23105141, 27129972, 28254787, 28468826, 29405541
Bronchiectasis	Associate	32499333
Carcinoma Hepatocellular	Associate	23991075
Cell Transformation Viral	Associate	18028488
Cellulitis	Associate	22148006
Cerebral Infarction	Stimulate	31355307
Cholesteatoma	Associate	25093596
Ciliary Motility Disorders	Associate	36528664
Clostridium Infections	Associate	38514010
Cocaine Related Disorders	Associate	15457464
Colorectal Neoplasms	Associate	35836259
COVID 19	Associate	37187291, 37505242, 37853954, 38226800
Cyclic neutropenia	Associate	11001877, 14962902, 16551967, 17761833, 19397594, 20582973, 25880377, 26567890, 29517659, 31574885, 35571273, 37138249, 37993852, 39676859
Cystic Disease Of Lung	Associate	29937317
Cystic Fibrosis	Associate	12782302, 1357002, 15661927, 1569186, 16356787, 16917116, 20111696, 21193404, 21263071, 22418019, 23316069, 26221769, 26993521, 32981934, 35202587, 37187291 View all (1 more)
Cystic Fibrosis	Stimulate	17384080
Dermatitis Herpetiformis	Associate	22991566
Diabetes Mellitus	Associate	26517273
Diabetes Mellitus Type 1	Inhibit	26939803
Diabetes Mellitus Type 2	Associate	26517273, 33464544
Disseminated Intravascular Coagulation	Associate	34137469
Edema	Associate	26654922
Emphysema	Associate	1541671, 20521180, 2404977, 25098359, 25416382, 30532529
Enterocolitis Neutropenic	Associate	11722436, 12778173, 21796505
Epilepsy	Associate	34555062
Erythema elevatum diutinum	Associate	28881492
Exocrine Pancreatic Insufficiency	Associate	33627129
Fever	Associate	29517659
Genetic Diseases Inborn	Associate	22624626
Glomerulonephritis IGA	Associate	31726998
Hemochromatosis	Associate	9375773
Hypereosinophilic Syndrome	Associate	25361058
Hypoxia	Stimulate	27581620
Hypoxia Brain	Stimulate	27581620
Ichthyosis X Linked	Associate	30816547
Immunologic Deficiency Syndromes	Associate	40593888
Infections	Associate	15927073, 23206890, 33556558, 37118811, 37993852
Inflammation	Inhibit	10194477
Inflammation	Associate	1569186, 17395013, 22418019, 22564522, 2404977, 26453303, 26610096, 28881492, 31756380, 34552111, 34580954
Inflammation	Stimulate	19670042, 27581620, 32981934
Keloid	Associate	22509836
Labor Pain	Associate	28954603
Leukemia	Associate	15070688, 17412886, 20175919, 22495388, 23105141, 26081156, 27035679, 35768562, 36129940
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	12893759, 17412886, 18565849, 20175919
Leukemia Myeloid	Associate	15070688, 15958635, 18403643, 22495388, 23528871
Leukemia Myeloid Acute	Associate	12763135, 14962902, 18403643
Leukemia Prolymphocytic T Cell	Associate	36129940
Leukemia Promyelocytic Acute	Associate	27840989, 31887298
Leukemia T Cell	Associate	18028488, 22624626
Liver Cirrhosis Biliary	Associate	1541671
Liver Diseases	Associate	34580954
Lung Diseases	Associate	22418019, 26221769, 30633749, 3260245, 32981934
Lung Neoplasms	Associate	15892999, 20521180, 28254787
Lupus Erythematosus Systemic	Associate	18606005, 32576231, 37118811
Lymphohistiocytosis Hemophagocytic	Associate	39676859
Malaria Cerebral	Associate	26884431
Malformations of Cortical Development Group I	Stimulate	24988221
Melanoma	Associate	28254787
Multiple Myeloma	Associate	34761615, 39231316
Multiple Organ Failure	Associate	34137469
Mycobacterium avium intracellulare Infection	Stimulate	9657559
Mycoses	Associate	15585850
Myelodysplastic Syndromes	Associate	22624626
Nasal Polyps	Associate	25361058
Nasal Polyps	Inhibit	26849431
Neoplasm Metastasis	Associate	12671709, 20521180, 29405541
Neoplasms	Associate	12671709, 23001948, 23105141, 23528871, 23802180, 27129972, 27927741, 28254787, 28468826, 30615612, 31887298, 37596368
Neoplasms	Inhibit	38205232
Neoplastic Syndromes Hereditary	Associate	14673143, 24184683, 28881492
Neural Tube Defects	Associate	14962902
Neutropenia	Associate	12763135, 14962902, 15657182, 23206890, 23454784, 24184683, 24997149, 26193632, 28754797, 31176364, 31248972, 34580954, 35525891, 37118811, 37795094, 37855057, 37993852, 40358701 View all (3 more)
Neutropenia severe chronic	Associate	37993852
Neutropenia Severe Congenital Autosomal Recessive 3	Associate	11001877, 11675333, 11722436, 12091371, 12763135, 12778173, 14673143, 14962902, 15657182, 16551967, 17107353, 17202606, 17761833, 18028488, 18513286 View all (34 more)
Neutropenia Severe Congenital Autosomal Recessive 3	Inhibit	19620402
Neutropenia Severe Congenital X Linked	Associate	19036076
Neutrophil Immunodeficiency Syndrome	Stimulate	32580239
Neutrophil Immunodeficiency Syndrome	Associate	35197088, 37428870
Non alcoholic Fatty Liver Disease	Associate	36451177
Obesity	Associate	25388404
Obstetric Labor Premature	Associate	19670042
Obstetric Labor Premature	Stimulate	28954603
Oculodental syndrome Rutherfurd syndrome	Associate	37993852
Oral Ulcer	Associate	29517659
Osteoarthritis	Associate	34270864
Otitis Media	Associate	37993852
Parkinson Disease	Associate	35342758
Parvoviridae Infections	Associate	28881492
Pelvic Organ Prolapse	Associate	19763368
Pemphigoid Bullous	Associate	11710917, 24945093
Periodontal Diseases	Associate	10212191
Periodontitis	Associate	21796505, 31574885
Persistent Infection	Stimulate	28954603
Pneumonia	Associate	37993852
Pneumonia Ventilator Associated	Associate	26459786
Polyradiculoneuropathy Chronic Inflammatory Demyelinating	Associate	15892999
Primary Immunodeficiency Diseases	Associate	40593888
Primary Myelofibrosis	Associate	24454890
Pseudomonas Infections	Associate	32499333
Pseudoxanthoma Elasticum	Associate	10629570
Pulmonary Arterial Hypertension	Associate	34181952
Pulmonary Disease Chronic Obstructive	Associate	12495942, 21483784, 24988221, 25416382, 26453303, 27880043, 28588027, 31143784, 32981934
Respiratory Distress Syndrome	Associate	15927073
Respiratory Distress Syndrome	Stimulate	19197381
Respiratory Tract Diseases	Associate	32981934
Root Resorption	Associate	32785479
Schizophrenia	Associate	37147304
Sepsis	Associate	22148006, 23206890, 37993852
Severe Acute Respiratory Syndrome	Associate	33560392
Soft Tissue Injuries	Associate	25416382
Stomach Neoplasms	Associate	37596368
Thrombocytopenia	Associate	34137469
Tooth Diseases	Associate	31574885
Urinary Tract Infections	Associate	22148006
Uterine Cervical Neoplasms	Associate	15989693
Varicose Ulcer	Associate	36250733
Virus Diseases	Associate	28881492, 39676859

ELANE (elastase, neutrophil expressed)