NFE2 - nuclear factor, erythroid 2 Gene

Homo sapiens

Also known as p45; NF-E2

Gene ID: 4778 | Gene type: protein coding

About NFE2

Cytogenetic location: 12q13.13 Genomic coordinates (GRCh38): 12:54,292,111-54,301,015 (from NCBI)

This gene has 5 transcripts (splice variants), 188 orthologues and 3 paralogues. Biased expression in bone marrow (RPKM 31.8), spleen (RPKM 3.5) and 3 other tissues.

Summary

Enables several functions, including WW domain binding activity; identical protein binding activity; and protein N-terminus binding activity. Contributes to cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including labyrinthine layer blood vessel development; negative regulation of bone mineralization; and negative regulation of syncytium formation by plasma membrane fusion. Part of protein-DNA complex. [provided by Alliance of Genome Resources, Apr 2022]

NFE2 Products(6)

mRNA	Protein	Name
NM_001136023.3	NP_001129495.1	transcription factor NF-E2 45 kDa subunit isoform 1
NM_001261461.2	NP_001248390.1	transcription factor NF-E2 45 kDa subunit isoform 1
NM_001400365.1	NP_001387294.1	transcription factor NF-E2 45 kDa subunit isoform 1
NM_001400372.1	NP_001387301.1	transcription factor NF-E2 45 kDa subunit isoform 2
NM_001400373.1	NP_001387302.1	transcription factor NF-E2 45 kDa subunit isoform 2
NM_006163.3	NP_006154.1	transcription factor NF-E2 45 kDa subunit isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA binding	IDA IDA: Inferred from direct assay	12609092	GOA
enables WW domain binding	IDA IDA: Inferred from direct assay	9305852	GOA
enables WW domain binding	IPI IPI: Inferred from physical interaction	9305852	GOA
contributes to cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	16263792	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	20102225	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11863372	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of RNA polymerase II transcription regulator complex	IPI IPI: Inferred from physical interaction	20102225	GOA
part of protein-DNA complex	IDA IDA: Inferred from direct assay	12609092	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NFE2 Protein Structure

bZIP_Maf

0
100
200
300
373 a.a.

Protein Preferred Names

Protein Names

transcription factor NF-E2 45 kDa subunit

leucine zipper protein NF-E2

NFE2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	NFE2	Q16621	NFE2L3	Homo sapiens	Q9Y4A8	Peptide Array	20102225
Intra	NFE2	Q16621	NFE2L3	Homo sapiens	Q9Y4A8	FRET	23661758
Intra	NFE2	Q16621	GLE1	Homo sapiens	Q53GS7	Validated Y2H	32814053
Intra	NFE2	Q16621	GLE1	Homo sapiens	Q53GS7	Y2H Array	32814053
Intra	NFE2	Q16621	GLE1	Homo sapiens	Q53GS7	Y2H Pooling	32814053
Intra	NFE2	Q16621	q9y649_human	Homo sapiens	Q9Y649	Validated Y2H	32814053
Intra	NFE2	Q16621	q9y649_human	Homo sapiens	Q9Y649	Y2H Array	32814053
Intra	NFE2	Q16621	q9y649_human	Homo sapiens	Q9Y649	Y2H Pooling	32814053
Intra	NFE2	Q16621	BTRC	Homo sapiens	Q9Y297	Validated Y2H	25416956
Intra	NFE2	Q16621	BTRC	Homo sapiens	Q9Y297	Y2H Prey Pooling	25416956
Intra	NFE2	Q16621	FGFR3	Homo sapiens	P22607	Validated Y2H	32814053
Intra	NFE2	Q16621	FGFR3	Homo sapiens	P22607	Y2H Array	32814053
Intra	NFE2	Q16621	FGFR3	Homo sapiens	P22607	Y2H Pooling	32814053
Intra	NFE2	Q16621	GSN	Homo sapiens	P06396	Validated Y2H	32814053
Intra	NFE2	Q16621	GSN	Homo sapiens	P06396	Y2H Array	32814053
Intra	NFE2	Q16621	GSN	Homo sapiens	P06396	Y2H Pooling	32814053
Intra	NFE2	Q16621	SPRED1	Homo sapiens	Q7Z699	Y2H Pooling	32814053
Intra	NFE2	Q16621	SPRED1	Homo sapiens	Q7Z699	Validated Y2H	32814053
Intra	NFE2	Q16621	SPRED1	Homo sapiens	Q7Z699	Y2H Array	32814053
Intra	NFE2	Q16621	NFE2	Homo sapiens	Q16621	Peptide Array	20102225
Intra	NFE2	Q16621	NFE2	Homo sapiens	Q16621	FRET	23661758
Cross	NFE2	Q16621	MDV005	Gallid herpesvirus 2	Q9DGW5	Peptide Array	20102225

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Erythroleukemia

Polycythemia

Erythrocythemia	Polycythemia Vera
Polycythaemia Due To High Altitude

Polycythemia Vera

PV	Polycythemia Rubra Vera
Prv	Osler-Vaquez Disease
Chronic Erythremia	Polycythaemia Rubra Vera
Primary Polycythemia	Vaquez Disease
Polycythemia Vera, Somatic	Osler-Vaquez Syndrome
Proliferative Polycythaemia	Polycythemia Ruba Vera
Acquired Primary Erythrocytosis	Heilmeyer-Schoner Disease
Vaquez Osler Disease	Primary Polycythaemia

Myelofibrosis

Primary Myelofibrosis	Agnogenic Myeloid Metaplasia
Idiopathic Myelofibrosis	Myeloid Metaplasia
Myelofibrosis With Myeloid Metaplasia	Osteomyelofibrosis
Megakaryocytic Myelosclerosis	Myelosclerosis
Chronic Idiopathic Myelofibrosis	Myelofibrosis, Idiopathic
Myelofibrosis With Myeloid Metaplasia, Somatic	Myelofibrosis, Somatic
Aleukemic Myelosis	Bone Marrow Fibrosis
MYELOF	MMM
Agnogenic Myeloid Metaplasia With Myelofibrosis	Ammm
Myelosclerosis With Myeloid Metaplasia	Myelofibrosis Nos

Thrombocytopenia

Low Platelet Count	Low Platelets
Decreased Platelets	Platelet Dysfunction Nos

Acute Erythroid Leukemia

Acute Erythroleukemia	Di Guglielmo'S Syndrome
Aml M6	Acute Myeloid Leukemia Fab-M6
Acute Myeloid Leukemia M6	Erythroleukemia
Aml-M6	Acute Erythroleukemia M6a Subtype
Acute Erythroleukemia M6b Subtype	Di Guglielmo Syndrome
Acute Myeloid Leukemia, M6 Type	Acute Erythroblastic Leukemia
Acute Erythroleukemia - M6a Subtype	Acute Erythroleukemia - M6b Subtype
Acute Erythraemia And Erythroleukaemia	Acute Erythroid Leukaemia Without Mention Of Remission
Erythraemia	Erythraemic Myelosis
Erythroleukaemia	Acute Erythraemic Myelosis
Acute Erythraemia

Hemoglobin H Disease

HBH	Hemoglobin H Disease, Nondeletional
Hemoglobin H Disease, Deletional	Alpha-Thalassemia Intermedia
Haemoglobin H Disease	Alpha-Thalassemia, Hemoglobin H Type
Hemoglobin H Disease, Deletional And Nondeletional	Alpha Thalassemia, Haemoglobin H Type
Alpha Thalassemia, Hemoglobin H Type	Haemoglobin H Disease, Deletional
Hbh Disease	Alpha-Thalassemia Hemoglobin H Type
Hemoglobin H Disease Deletional	Hemoglobin H Disease Non-Deletional
Alpha-Thalassemia	Alpha - /- - Or Mutational Forms Of Alpha-Thalassaemia
Alpha Thalassaemia Intermedia

Essential Thrombocythemia

Essential Thrombocytosis	Familial Thrombocytosis
Hemorrhagic Thrombocythemia	Hereditary Thrombocythemia
Primary Thrombocytosis	Idiopathic Thrombocythemia
Primary Thrombocythemia	Thrombocythemia, Essential
Essential Thrombocythaemia	Et
Familial Thrombocythemia	Thrombocythemia Essential

Deficiency Anemia

Anemia	Deficiency Anemias
Anaemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (9)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-12213	CDDO-EA	Activator	99.71%	Unkown
HY-145390	Nrf2 activator-1	Activator	95.74%	Unkown
HY-N6802	Tigloylgomisin H		/	Unkown
HY-RS09245	NFE2L2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS09243	NFE2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS09244	NFE2L1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS09246	Nfe2l2 Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS09247	Nfe2l2 Rat Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS09248	NFE2L3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	NFE2	VGNC	VGNC:68473
Macaca mulatta	NFE2	VGNC	VGNC:75330
Canis familiaris	NFE2	VGNC	VGNC:43771
Mus musculus	NFE2	MGD	MGI:97308
Bos taurus	NFE2	VGNC	VGNC:32034
Rattus norvegicus	NFE2	RGD	RGD:1306888
Others	NFE2	NCBI

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