Nfe2l2 MGI Mouse Gene Detail - MGI:108420 - nuclear factor, erythroid derived 2, like 2

Symbol

Nfe2l2
Name

nuclear factor, erythroid derived 2, like 2
Synonyms

Nrf2

Feature Type

protein coding gene
IDs

MGI:108420
NCBI Gene: 18024
Alliance

gene page
Transcription Start Sites

19 TSS
Candidate for QTL

1 QTL

Sequence Map

Chr2:75505857-75534985 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 44.75 cM
Mapping Data

5 experiments

SNPs within 2kb

794 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_108420	protein coding gene	Chr2:75505857-75535007 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0025857	protein coding gene	Chr2:76040487-76070934 (-)
A/J	MGP_AJ_G0025835	protein coding gene	Chr2:73062433-73092815 (-)
AKR/J	MGP_AKRJ_G0025803	protein coding gene	Chr2:75035947-75064870 (-)
BALB/cJ	MGP_BALBcJ_G0025829	protein coding gene	Chr2:73251602-73284251 (-)
C3H/HeJ	MGP_C3HHeJ_G0025589	protein coding gene	Chr2:75239338-75269090 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0026276	protein coding gene	Chr2:78301317-78338538 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0023679	protein coding gene	Chr2:70479834-70509436 (-)
CAST/EiJ	MGP_CASTEiJ_G0025053	protein coding gene	Chr2:75562722-75592149 (-)
CBA/J	MGP_CBAJ_G0025570	protein coding gene	Chr2:81161337-81194398 (-)
DBA/2J	MGP_DBA2J_G0025701	protein coding gene	Chr2:72659732-72688972 (-)
FVB/NJ	MGP_FVBNJ_G0025663	protein coding gene	Chr2:72047545-72077595 (-)
LP/J	MGP_LPJ_G0025789	protein coding gene	Chr2:75891259-75923726 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0025694	protein coding gene	Chr2:83056978-83087103 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026333	protein coding gene	Chr2:75163787-75195434 (-)
PWK/PhJ	MGP_PWKPhJ_G0024794	protein coding gene	Chr2:72621136-72650412 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0024602	protein coding gene	Chr2:75398659-75429466 (-)
WSB/EiJ	MGP_WSBEiJ_G0025121	protein coding gene	Chr2:75621824-75650866 (-)

Human Ortholog

NFE2L2, NFE2 like bZIP transcription factor 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

NFE2L2, NFE2 like bZIP transcription factor 2
Synonyms

HEBP1, IMDDHH, Nrf-2, NRF2
Links

HGNC:7782

NCBI Gene ID: 4780

neXtProt AC: NX_Q16236

UniProt: Q16236
Chr Location

2q31.2; chr2:177218667-177392756 (-) GRCh38

MGI Vertebrate Homology

Nfe2l2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: NFE2L2
Gene Tree

Nfe2l2

Diseases

5 with human NFE2L2 associations

				Human Disease	Mouse Models
				Alzheimer's disease IDs Alzheimer's disease DOID:10652 ICD10CM:G30 ICD9CM:331.0 KEGG:05010 MESH:D000544 NCI:C2866 UMLS_CUI:C0002395
				cataract IDs cataract DOID:83 ICD10CM:H26 ICD9CM:366.8 OMIM:601371 OMIM:PS116200 UMLS_CUI:C0029531
				hepatocellular carcinoma IDs hepatocellular carcinoma DOID:684 DOID:5005 EFO:0000182 ICD10CM:C22.0 MESH:D006528 NCI:C3099 OMIM:114550 ORDO:88673 UMLS_CUI:C2239176
				macular degeneration IDs macular degeneration DOID:4448 MESH:D008268 NCI:C123330 ORDO:279 UMLS_CUI:C0024437
				tuberculosis IDs tuberculosis DOID:399 DOID:10096 DOID:12688 DOID:12691 DOID:415 DOID:9901 DOID:9902 MESH:D014375 UMLS_CUI:C0041295

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

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Phenotype Summary

142 phenotypes from 6 alleles in 14 genetic backgrounds
41 phenotypes from multigenic genotypes
1 images
650 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

128
Chemically induced (other)

1
Endonuclease-mediated

7
Gene trapped

98
Targeted

20
Transgenic

2
Genomic Mutations

3 involving Nfe2l2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

90 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Nullizygous mice show increased sensitivity to oxidative stress in a variety of organs and cells, abnormal tooth enamel, altered response to various injuries, chemical treatments and induced inflammatory diseases, and an age-related decline in spermatogenesis and ovarian follicle numbers.

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All GO Annotations

139
GO References

35

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

1077
Tissues

262
cDNA Data

138
Literature Summary

41

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA NFE2L2

Xenbase nfe2l2

ZFIN nfe2l2a

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All Sequences

44
RefSeq

4
UniProt

2
CCDS

CCDS16150.1

Ensembl

ENSMUSG00000015839 (Evidence)
NCBI Gene

18024

			Length	Strain/Species	Flank
genomic	ENSMUSG00000015839	Ensembl Gene Model \| MGI Sequence Detail	29129	C57BL/6J	± kb
transcript	ENSMUST00000102672	Ensembl \| MGI Sequence Detail	2475	Not Applicable
polypeptide	ENSMUSP00000099733	Ensembl \| MGI Sequence Detail	597	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000011170 nuclear factor erythroid 2-related factor 2

(term hierarchy)
PDB

1X2R, 2DYH, 3WN7, 7ECA
InterPro Domains

IPR004827 Basic-leucine zipper domain

IPR004826 Basic leucine zipper domain, Maf-type

IPR046347 Basic-leucine zipper domain superfamily

IPR047167 Nuclear Factor Erythroid-derived 2-like

IPR008917 Transcription factor, Skn-1-like, DNA-binding domain superfamily

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All nucleic 149

Genomic 2

cDNA 139

Primer pair 6

Other 2

Microarray probesets 4

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MGD-MRK-37463, MGI:2138857

Summaries

All 1028

Developmental Gene Expression 41

Gene Ontology 35

Phenotypes 650
Earliest

J:24214 Chui DH, et al., cDNA cloning of murine Nrf 2 gene, coding for a p45 NF-E2 related transcription factor. Biochem Biophys Res Commun. 1995 Apr 6;209(1):40-6
Latest

J:357377 Ghosh R, et al., Sequestosome 1 (p62) mitigates hypoxia-induced cardiac dysfunction by stabilizing hypoxia-inducible factor 1alpha and nuclear factor erythroid 2-related factor 2. Cardiovasc Res. 2024 Apr 30;120(5):531-547

TSS for Nfe2l2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr24659	Chr2:75535448-75535460 (-)	-469 bp
Tssr24658	Chr2:75535376-75535409 (-)	-408 bp
Tssr24657	Chr2:75535357-75535366 (-)	-377 bp
Tssr540	Chr2:75534988-75535023 (-)	-21 bp
Tssr539	Chr2:75534940-75534958 (-)	36 bp
Tssr24656	Chr2:75534879-75534896 (-)	97 bp
Tssr24655	Chr2:75534814-75534877 (-)	139 bp
Tssr538	Chr2:75534772-75534785 (-)	206 bp
Tssr537	Chr2:75534742-75534746 (-)	241 bp
Tssr24654	Chr2:75534319-75534335 (-)	658 bp
Tssr24653	Chr2:75520952-75520954 (-)	14,032 bp
Tssr24652	Chr2:75515848-75515867 (-)	19,127 bp
Tssr24651	Chr2:75509755-75509776 (-)	25,219 bp
Tssr24650	Chr2:75509736-75509749 (-)	25,242 bp
Tssr24649	Chr2:75507922-75507937 (-)	27,055 bp
Tssr24648	Chr2:75506977-75506994 (-)	27,999 bp
Tssr24647	Chr2:75506872-75506897 (-)	28,100 bp
Tssr24646	Chr2:75506734-75506746 (-)	28,245 bp
Tssr24645	Chr2:75506582-75506616 (-)	28,386 bp

Nfe2l2 is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Lith1	Chr2, 47.93 cM	Chr2:45347635-145312647	J:88844	Authors indicate that Nfe212 may be the causitive gene for the Lith1 QTL. However other genes within the QTL region may also effect the Lith1 phenotype.

*cM position of peak correlated region/marker

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)
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