NFE2 (nuclear factor, erythroid 2)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 4778
Gene name Nuclear factor, erythroid 2
Gene symbol NFE2
Synonyms (NCBI Gene)
NF-E2p45
Chromosome 12
Chromosome location 12q13.13
miRNA miRNA information provided by mirtarbase database.
1
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT738830 hsa-miR-326 HITS-CLIP 33718276
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
Transcription factor Regulation Reference
GATA1 Unknown 20564185
MYC Repression 18838534
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601490 7780 ENSG00000123405
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16621
Protein name Transcription factor NF-E2 45 kDa subunit (Leucine zipper protein NF-E2) (Nuclear factor, erythroid-derived 2 45 kDa subunit) (p45 NF-E2)
Protein function Component of the NF-E2 complex essential for regulating erythroid and megakaryocytic maturation and differentiation. Binds to the hypersensitive site 2 (HS2) of the beta-globin control region (LCR). This subunit (NFE2) recognizes the TCAT/C sequ
PDB 2KZ5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03131 bZIP_Maf 237 → 330 bZIP Maf transcription factor Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Expressed in hematopoietic cells and also in colon and testis.
Sequence 
MSPCPPQQSRNRVIQLSTSELGEMELTWQEIMSITELQGLNAPSEPSFEPQAPAPYLGPP
PPTTYCPCSIHPDSGFPLPPPPYELPASTSHVPDPPYSYGNMAIPVSKPLSLSGLLSEPL
QDPLALLDIGLPAGPPKPQEDPESDSGLSLNYSDAESLELEGTEAGRRRSEYVEMYPVEY
PYSLMPNSLAHSNYTLPAAETPLALEPSSGPVRAKPTARGEAGSRDERRALAMKIPFPTD
KIVNLPVDDFNELLARYPLTESQLALVRDIRRRGKNKVAAQNCRKRKLETIVQLERELER
LTNERERLLRARGEADRTLEVMRQQLTELYRDIFQHLRDESGNSYSPEEYALQQAADGTI
FLVPRGTKMEATD
Sequence length 373
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
Factors involved in megakaryocyte development and platelet production
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (1)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
THROMBOCYTOPENIA — ClinGen, Disgenet, GWAS catalog
ClinGen, Disgenet, GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (65)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 10891470, 12894591, 14597626, 19966288, 30012865, 7828582
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 30755419
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 23932394
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Hemolytic Hemolytic anemia Pubtator 19687298 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 18783480
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis Pubtator 34379528 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 18783480
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 37596527 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 29212168
★★★★★
★☆☆☆☆
Found in Text Mining only
Chronic Disease Chronic disease Pubtator 8049443 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only