Elane MGI Mouse Gene Detail - MGI:2679229 - elastase, neutrophil expressed

Symbol

Elane
Name

elastase, neutrophil expressed
Synonyms

Ela2, F430011M15Rik, NE, neutrophil elastase

Feature Type

protein coding gene
IDs

MGI:2679229
NCBI Gene: 50701
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr10:79722146-79724050 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 39.72 cM
Mapping Data

5 experiments

SNPs within 2kb

106 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2679229	protein coding gene	Chr10:79722081-79724050 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0017466	protein coding gene	Chr10:80447427-80449324 (+)
A/J	MGP_AJ_G0017444	protein coding gene	Chr10:77641431-77643333 (+)
AKR/J	MGP_AKRJ_G0017405	protein coding gene	Chr10:79756650-79758602 (+)
BALB/cJ	MGP_BALBcJ_G0017406	protein coding gene	Chr10:77867845-77869748 (+)
C3H/HeJ	MGP_C3HHeJ_G0017229	protein coding gene	Chr10:79862032-79863939 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0017860	protein coding gene	Chr10:83221471-83225828 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015548	protein coding gene	Chr10:73867727-73869600 (+)
CAST/EiJ	MGP_CASTEiJ_G0016796	protein coding gene	Chr10:80047997-80049895 (+)
CBA/J	MGP_CBAJ_G0017201	protein coding gene	Chr10:86450134-86452028 (+)
DBA/2J	MGP_DBA2J_G0017307	protein coding gene	Chr10:76856534-76858431 (+)
FVB/NJ	MGP_FVBNJ_G0017301	protein coding gene	Chr10:76033647-76035541 (+)
LP/J	MGP_LPJ_G0017378	protein coding gene	Chr10:80923944-80925854 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017327	protein coding gene	Chr10:88422000-88423894 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017901	protein coding gene	Chr10:79742382-79744289 (+)
PWK/PhJ	MGP_PWKPhJ_G0016577	protein coding gene	Chr10:76721485-76723421 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016366	protein coding gene	Chr10:78713153-78718261 (+)
WSB/EiJ	MGP_WSBEiJ_G0016856	protein coding gene	Chr10:79764648-79766553 (+)

Human Ortholog

ELANE, elastase, neutrophil expressed

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ELANE, elastase, neutrophil expressed
Synonyms

ELA2, GE, HLE, HNE, NE, PMN-E, SCN1
Links

HGNC:3309

NCBI Gene ID: 1991

neXtProt AC: NX_P08246

UniProt: P08246
Chr Location

19p13.3; chr19:851014-856247 (+) GRCh38

MGI Vertebrate Homology

Elane stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: ELANE
Gene Tree

Elane

Diseases

4 with human ELANE associations

				Human Disease	Mouse Models
				cyclic hematopoiesis IDs cyclic hematopoiesis DOID:5339 ICD10CM:D70.4 ICD9CM:288.02 MESH:C536227 NCI:C3820 OMIM:162800 UMLS_CUI:C0221023
				periodontitis IDs periodontitis DOID:824 EFO:0000649 ICD10CM:K05.3 MESH:D010518 NCI:C34918 UMLS_CUI:C0031099
				severe congenital neutropenia IDs severe congenital neutropenia DOID:0050590 ICD10CM:D70 OMIM:PS202700 ORDO:42738
				severe congenital neutropenia 1 IDs severe congenital neutropenia 1 DOID:0080625 OMIM:202700

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

14 phenotypes from 4 alleles in 8 genetic backgrounds
9 phenotypes from multigenic genotypes
108 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

13
Chemically induced (ENU)

1
Chemically induced (other)

1
Endonuclease-mediated

5
Targeted

6
Genomic Mutations

3 involving Elane
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

25 strains or lines available

Homozygotes for a null allele show impaired neutrophil physiology, susceptibility to Gram (-) bacterial infection, reduced sensitivity to xenobiotics, and abnormal local Shwartzman responses. Homozygotes for a knock-in allele show susceptibility to fungal infection and resistance to endotoxic shock.

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All GO Annotations

61
GO References

10

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

717
Tissues

2
cDNA Data

4
Literature Summary

4

Images

Tissue x Stage Matrix

Other Mouse Links

GEO

Expression Atlas

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All Sequences

30
RefSeq

2
UniProt

1
CCDS

CCDS23994.1

Ensembl

ENSMUSG00000020125 (Evidence)
NCBI Gene

50701

			Length	Strain/Species	Flank
genomic	50701	NCBI Gene Model \| MGI Sequence Detail	1905	C57BL/6J	± kb
transcript	NM_015779	RefSeq \| MGI Sequence Detail	920	ZRU/MplStud
polypeptide	Q3UP87	UniProt \| EBI \| MGI Sequence Detail	265	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000007009 neutrophil elastase

(term hierarchy)
EC

3.4.21.37
InterPro Domains

IPR001314 Peptidase S1A, chymotrypsin family

IPR050850 Peptidase S1 family, Elastase subfamily

IPR009003 Peptidase S1, PA clan

IPR043504 Peptidase S1, PA clan, chymotrypsin-like fold

IPR001254 Serine proteases, trypsin domain

IPR018114 Serine proteases, trypsin family, histidine active site

IPR033116 Serine proteases, trypsin family, serine active site
GlyGen

Q3UP87 2 sites, 1 N-linked glycan (1 site)

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All nucleic 9

Genomic 5

cDNA 4

Microarray probesets 3

Summaries

All 160

Developmental Gene Expression 4

Gene Ontology 10

Phenotypes 108
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:352018 Zhang H, et al., Ferritin-mediated neutrophil extracellular traps formation and cytokine storm via macrophage scavenger receptor in sepsis-associated lung injury. Cell Commun Signal. 2024 Feb 2;22(1):97

TSS for Elane:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr94422	Chr10:79722136-79722153 (+)	-1 bp
Tssr94423	Chr10:79722645-79722653 (+)	503 bp
Tssr94424	Chr10:79722716-79722736 (+)	580 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24