NFE2 - nuclear factor, erythroid 2 Gene

Also Known as p45; NF-E2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4778

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
Molecular Function GO Annotation Evidence References 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 References 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

bZIP_Maf: bZIP Maf transcription factor (239 - 329)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
NFE2 Q16621 NFE2L3 Homo sapiens Q9Y4A8 20102225
Intra
NFE2 Q16621 NFE2L3 Homo sapiens Q9Y4A8 23661758
Intra
NFE2 Q16621 GLE1 Homo sapiens Q53GS7 32814053
Intra
NFE2 Q16621 GLE1 Homo sapiens Q53GS7 32814053
Intra
NFE2 Q16621 GLE1 Homo sapiens Q53GS7 32814053
Intra
NFE2 Q16621 q9y649_human Homo sapiens Q9Y649 32814053
Intra
NFE2 Q16621 q9y649_human Homo sapiens Q9Y649 32814053
Intra
NFE2 Q16621 q9y649_human Homo sapiens Q9Y649 32814053
Intra
NFE2 Q16621 BTRC Homo sapiens Q9Y297 25416956
Intra
NFE2 Q16621 BTRC Homo sapiens Q9Y297 25416956
Intra
NFE2 Q16621 FGFR3 Homo sapiens P22607 32814053
Intra
NFE2 Q16621 FGFR3 Homo sapiens P22607 32814053
Intra
NFE2 Q16621 FGFR3 Homo sapiens P22607 32814053
Intra
NFE2 Q16621 GSN Homo sapiens P06396 32814053
Intra
NFE2 Q16621 GSN Homo sapiens P06396 32814053
Intra
NFE2 Q16621 GSN Homo sapiens P06396 32814053
Intra
NFE2 Q16621 SPRED1 Homo sapiens Q7Z699 32814053
Intra
NFE2 Q16621 SPRED1 Homo sapiens Q7Z699 32814053
Intra
NFE2 Q16621 SPRED1 Homo sapiens Q7Z699 32814053
Intra
NFE2 Q16621 NFE2 Homo sapiens Q16621 20102225
Intra
NFE2 Q16621 NFE2 Homo sapiens Q16621 23661758
Cross
NFE2 Q16621 MDV005 Gallid herpesvirus 2 Q9DGW5 20102225
Cross: Cross-species interaction Intra: Intraspecies interaction

NFE2 Antibodies

Cat. No. 상품명 신청 Reactivity
HY-P81464 NFE2 Antibody (YA1209) IHC-P Human
HY-P81464A NFE2 Antibody (YA1209)(PBS only) IHC-P Human

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

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