• Gene id: 2018

Gene Summary

• Gene Symbol: EMX2   Gene   UCSC   Ensembl
• Gene name: empty spiracles homeobox 2
• Alternate names: homeobox protein EMX2, empty spiracles homolog 2, empty spiracles-like protein 2,
• Gene location: 10q26.11 (117542444: 117549545)     Exons: 10     NC_000010.11
• Gene summary(Entrez): This gene encodes a homeobox-containing transcription factor that is the homolog to the 'empty spiracles' gene in Drosophila. Research on this gene in humans has focused on its expression in three tissues: dorsal telencephalon, olfactory neuroepithelium,
• OMIM: 600035

Protein Summary

• Protein general information: Q04743  
  • Name: Homeobox protein EMX2 (Empty spiracles homolog 2) (Empty spiracles like protein 2)
  • Length: 252  
  • Mass: 28303
  • Tissue specificity: Cerebral cortex.
• Sequence:

  MFQPAPKRCFTIESLVAKDSPLPASRSEDPIRPAALSYANSSPINPFLNGFHSAAAAAAGRGVYSNPDLVFAEAV
  SHPPNPAVPVHPVPPPHALAAHPLPSSHSPHPLFASQQRDPSTFYPWLIHRYRYLGHRFQGNDTSPESFLLHNAL
  ARKPKRIRTAFSPSQLLRLEHAFEKNHYVVGAERKQLAHSLSLTETQVKVWFQNRRTKFKRQKLEEEGSDSQQKK
  KGTHHINRWRIATKQASPEEIDVTSDD

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR020479  IPR000047  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000450962
• Other Databases: GeneCards:  EMX2  Malacards:  EMX2

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:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0007420	brain development	IBA	biological process
GO:0030182	neuron differentiation	IBA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0001162	RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0007417	central nervous system development	IBA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
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:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0021885	forebrain cell migration	IEA	biological process
GO:0021846	cell proliferation in forebrain	IEA	biological process
GO:0021542	dentate gyrus development	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0072197	ureter morphogenesis	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0030900	forebrain development	IEA	biological process
GO:0030182	neuron differentiation	IEA	biological process
GO:0021987	cerebral cortex development	IEA	biological process
GO:0021796	cerebral cortex regionalization	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process

Diseases

Associated diseases	References
Schizencephaly	KEGG:H01160
Schizencephaly	KEGG:H01160
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R