1. Gene
  2. NFE2 - nuclear factor, erythroid 2 Gene

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

NFE2 Protein Structure

bZIP_Maf

bZIP_Maf: bZIP Maf transcription factor (239 - 329)

  • 0
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  • 200
  • 300
  • 373 a.a.
Protein Preferred Names Protein Names

transcription factor NF-E2 45 kDa subunit

leucine zipper protein NF-E2

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