• Gene id: 4778

Gene Summary

• Gene Symbol: NFE2   Gene   UCSC   Ensembl
• Aliases: NF-E2, p45
• Gene name: nuclear factor, erythroid 2
• Alternate names: transcription factor NF-E2 45 kDa subunit, leucine zipper protein NF-E2, nuclear factor (erythroid-derived 2), 45kD, nuclear factor (erythroid-derived 2), 45kDa, nuclear factor, erythroid-derived 2 45 kDa subunit, p45 NF-E2,
• Gene location: 12q13.13 (54301036: 54292106)     Exons: 6     NC_000012.12

Protein Summary

• Protein general information: Q16621  
  • Name: Transcription factor NF E2 45 kDa subunit (Leucine zipper protein NF E2) (Nuclear factor, erythroid derived 2 45 kDa subunit) (p45 NF E2)
  • Length: 373  
  • Mass: 41473
  • Tissue specificity: Expressed in hematopoietic cells and also in colon and testis.
• Sequence:

  MSPCPPQQSRNRVIQLSTSELGEMELTWQEIMSITELQGLNAPSEPSFEPQAPAPYLGPPPPTTYCPCSIHPDSG
  FPLPPPPYELPASTSHVPDPPYSYGNMAIPVSKPLSLSGLLSEPLQDPLALLDIGLPAGPPKPQEDPESDSGLSL
  NYSDAESLELEGTEAGRRRSEYVEMYPVEYPYSLMPNSLAHSNYTLPAAETPLALEPSSGPVRAKPTARGEAGSR
  DERRALAMKIPFPTDKIVNLPVDDFNELLARYPLTESQLALVRDIRRRGKNKVAAQNCRKRKLETIVQLERELER
  LTNERERLLRARGEADRTLEVMRQQLTELYRDIFQHLRDESGNSYSPEEYALQQAADGTIFLVPRGTKMEATD

• Structural information:
  • Protein Domains: (266..32-)
    (/note="bZIP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00978"-)
  • Interpro: IPR004827  IPR004826  IPR029853  IPR008917  
  • Prosite: PS50217 PS00036
  • PDB: 1LVX 2KZ5
  • PDBsum: 1LVX 2KZ5
  • DIP: 57844
  • STRING: ENSP00000439120
• Other Databases: GeneCards:  NFE2  Malacards:  NFE2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IBA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0042025	host cell nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003713	transcription coactivator activity	TAS	molecular function
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0007275	multicellular organism development	TAS	biological process
GO:0008015	blood circulation	TAS	biological process
GO:0006357	regulation of transcription by RNA polymerase II	TAS	biological process
GO:0007599	hemostasis	TAS	biological process
GO:0050699	WW domain binding	IDA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0007596	blood coagulation	TAS	biological process
GO:0045652	regulation of megakaryocyte differentiation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043565	sequence-specific DNA binding	TAS	molecular function
GO:0050699	WW domain binding	IPI	molecular function
GO:0050699	WW domain binding	IPI	molecular function
GO:0006337	nucleosome disassembly	TAS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	TAS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016605	PML body	IEA	cellular component
GO:0000987	cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0032993	protein-DNA complex	IDA	cellular component
GO:0047485	protein N-terminus binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881