• Gene id: 2020

Gene Summary

• Gene Symbol: EN2   Gene   UCSC   Ensembl
• Gene name: engrailed homeobox 2
• Alternate names: homeobox protein engrailed-2, engrailed homolog 2, engrailed-2, homeobox protein en-2, hu-En-2,
• Gene location: 7q36.3 (155458128: 155464830)     Exons: 2     NC_000007.14
• Gene summary(Entrez): Homeobox-containing genes are thought to have a role in controlling development. In Drosophila, the 'engrailed' (en) gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Differe
• OMIM: 134920

Protein Summary

• Protein general information: P19622  
  • Name: Homeobox protein engrailed 2 (Homeobox protein en 2) (Hu En 2)
  • Length: 333  
  • Mass: 34211
• Sequence:

  MEENDPKPGEAAAAVEGQRQPESSPGGGSGGGGGSSPGEADTGRRRALMLPAVLQAPGNHQHPHRITNFFIDNIL
  RPEFGRRKDAGTCCAGAGGGRGGGAGGEGGASGAEGGGGAGGSEQLLGSGSREPRQNPPCAPGAGGPLPAAGSDS
  PGDGEGGSKTLSLHGGAKKGGDPGGPLDGSLKARGLGGGDLSVSSDSDSSQAGANLGAQPMLWPAWVYCTRYSDR
  PSSGPRSRKPKKKNPNKEDKRPRTAFTAEQLQRLKAEFQTNRYLTEQRRQSLAQELSLNESQIKIWFQNKRAKIK
  KATGNKNTLAVHLMAQGLYNHSTTAKEGKSDSE

• Structural information:
  • Interpro: IPR019549  IPR009057  IPR017970  IPR001356  IPR000747   IPR020479  IPR019737  
  • Prosite: PS00033 PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000297375
• Other Databases: GeneCards:  EN2  Malacards:  EN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0030182	neuron differentiation	IBA	biological process
GO:0016586	RSC-type complex	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	TAS	biological process
GO:1990403	embryonic brain development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0030182	neuron differentiation	IEA	biological process
GO:0030901	midbrain development	IEA	biological process
GO:0030902	hindbrain development	IEA	biological process
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0048666	neuron development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component

Diseases

Associated diseases	References
autistic disorder	PMID:15024396
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq