Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 2018
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

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: 3     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, and urogenetial system. It is expressed in the dorsal telencephalon during development in a low rostral-lateral to high caudal-medial gradient and is proposed to pattern the neocortex into defined functional areas. It is also expressed in embryonic and adult olfactory neuroepithelia where it complexes with eukaryotic translation initiation factor 4E (eIF4E) and possibly regulates mRNA transport or translation. In the developing urogenital system, it is expressed in epithelial tissues and is negatively regulated by HOXA10. Alternative splicing results in multiple transcript variants encoding distinct proteins.[provided by RefSeq, Sep 2009]
OMIM 600035

SNPs

 rs1638626

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000672.2   g.117541943C>T
NC_000010.10   g.119301454C>T
NC_000010.11   g.117541943C>T
NG_013009.1   g.4499C>T
NM_001165924.1   c.-1325C>T
NM_004098.3   c.-1325C>T
NR_002791.2   n.574+2363G>A
NR_144378.1   n.493+154G>A
rs2240776

Strand:    Allele origin:   Allele change: A/C/T   Mutation type: snp

CM000672.2   g.117548013T>A
CM000672.2   g.117548013T>G
NC_000010.10   g.119307524T>A
NC_000010.11   g.117548013T>A
NC_000010.11   g.117548013T>G
NG_013009.1   g.10569T>A
NG_013009.1   g.10569T>G
NM_001165924.1   c.407-52T>A
NM_001165924.1   c.407-52T>G
NM_004098.3   c.592-52T>A
NM_004098.3   c.592-52T>G
rs2286629

Strand:    Allele origin:   Allele change: A/C   Mutation type: snp

CM000672.2   g.117542183T>G
NC_000010.10   g.119301694T>G
NC_000010.11   g.117542183T>G
NG_013009.1   g.4739T>G
NM_001165924.1   c.-1085T>G
NM_004098.3   c.-1085T>G
NR_002791.2   n.574+2123A>C
NR_144378.1   n.407A>C
rs365446

Strand:    Allele origin:   Allele change: C/G   Mutation type: snp

CM000672.2   g.117544804G>C
NC_000010.10   g.119304315G>C
NC_000010.11   g.117544804G>C
NG_013009.1   g.7360G>C
NM_001165924.1   c.406+1131G>C
NM_004098.3   c.407-828G>C
NR_002791.2   n.265C>G
rs385209

Strand:    Allele origin:   Allele change: A/C/G   Mutation type: snp

CM000672.2   g.117544545T>C
CM000672.2   g.117544545T>G
NC_000010.10   g.119304056T>C
NC_000010.11   g.117544545T>C
NC_000010.11   g.117544545T>G
NG_013009.1   g.7101T>C
NG_013009.1   g.7101T>G
NM_001165924.1   c.406+872T>C
NM_001165924.1   c.406+872T>G
NM_004098.3   c.406+872T>C
NM_004098.3   c.406+872T>G
NR_002791.2   n.503+21A>C
NR_002791.2   n.503+21A>G
NR_144378.1   n.-1956A>C
NR_144378.1   n.-1956A>G
rs703411

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000672.2   g.117541071C>T
NC_000010.10   g.119300582C>T
NC_000010.11   g.117541071C>T
NG_013009.1   g.3627C>T
NM_001165924.1   c.-2197C>T
NM_004098.3   c.-2197C>T
NR_002791.2   n.574+3235G>A
NR_144378.1   n.493+1026G>A
rs740734

Strand:    Allele origin:   Allele change: C/G   Mutation type: snp

CM000672.2   g.117547867G>C
NC_000010.10   g.119307378G>C
NC_000010.11   g.117547867G>C
NG_013009.1   g.10423G>C
NM_001165924.1   c.407-198G>C
NM_004098.3   c.592-198G>C
rs8192640

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000672.2   g.117545494C>T
NC_000010.10   g.119305005C>T
NC_000010.11   g.117545494C>T
NG_013009.1   g.8050C>T
NM_001165924.1   c.406+1821C>T
NM_004098.3   c.407-138C>T
NR_002791.2   n.-426G>A
rs855768

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000672.2   g.117547956G>A
NC_000010.10   g.119307467G>A
NC_000010.11   g.117547956G>A
NG_013009.1   g.10512G>A
NM_001165924.1   c.407-109G>A
NM_004098.3   c.592-109G>A
rs855769

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000672.2   g.117544585A>G
NC_000010.10   g.119304096A>G
NC_000010.11   g.117544585A>G
NG_013009.1   g.7141A>G
NM_001165924.1   c.406+912A>G
NM_004098.3   c.406+912A>G
NR_002791.2   n.484T>C
NR_144378.1   n.-1996T>C

Protein Summary
Protein general information Q04743  

Name: Homeobox protein EMX2 (Empty spiracles homolog 2) (Empty spiracles like protein 2)

Length: 252  Mass: 28,303

Tissue specificity: Cerebral cortex.

Sequence MFQPAPKRCFTIESLVAKDSPLPASRSEDPIRPAALSYANSSPINPFLNGFHSAAAAAAGRGVYSNPDLVFAEAV
SHPPNPAVPVHPVPPPHALAAHPLPSSHSPHPLFASQQRDPSTFYPWLIHRYRYLGHRFQGNDTSPESFLLHNAL
ARKPKRIRTAFSPSQLLRLEHAFEKNHYVVGAERKQLAHSLSLTETQVKVWFQNRRTKFKRQKLEEEGSDSQQKK
KGTHHINRWRIATKQASPEEIDVTSDD
Structural information
Interpro:  IPR009057 IPR017970 IPR001356 IPR020479 IPR000047
Prosite:   PS00027 PS50071

Pfam:  		 PF00046
STRING:   ENSP00000358202;
Other Databases GeneCards:  EMX2;  Malacards:  EMX2

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005515 protein binding
 IPI molecular_function
GO:0005634 nucleus
 IEA cellular_component
GO:0006355 regulation of transcripti
on, DNA-templated
 IEA biological_process
GO:0009952 anterior/posterior patter
n specification
 IEA biological_process
GO:0021542 dentate gyrus development
 IEA biological_process
GO:0021796 cerebral cortex regionali
zation
 IEA biological_process
GO:0021846 cell proliferation in for
ebrain
 IEA biological_process
GO:0021885 forebrain cell migration
 IEA biological_process
GO:0030182 neuron differentiation
 IEA biological_process
GO:0042493 response to drug
 IEA biological_process
GO:0043565 sequence-specific DNA bin
ding
 IEA molecular_function
GO:0072001 renal system development
 IEA biological_process
GO:0003677 DNA binding
 IEA molecular_function
GO:0003677 DNA binding
 IEA molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005634 nucleus
 IEA cellular_component
GO:0005634 nucleus
 IEA cellular_component
GO:0006355 regulation of transcripti
on, DNA-templated
 IEA biological_process
GO:0007275 multicellular organism de
velopment
 IEA biological_process
GO:0007420 brain development
 IEA biological_process
GO:0009952 anterior/posterior patter
n specification
 IEA biological_process
GO:0010468 regulation of gene expres
sion
 IEA biological_process
GO:0021542 dentate gyrus development
 IEA biological_process
GO:0021796 cerebral cortex regionali
zation
 IEA biological_process
GO:0021846 cell proliferation in for
ebrain
 IEA biological_process
GO:0021885 forebrain cell migration
 IEA biological_process
GO:0021987 cerebral cortex developme
nt
 IEA biological_process
GO:0030182 neuron differentiation
 IEA biological_process
GO:0030900 forebrain development
 IEA biological_process
GO:0042493 response to drug
 IEA biological_process
GO:0043565 sequence-specific DNA bin
ding
 IEA molecular_function
GO:0072001 renal system development
 IEA biological_process
GO:0005515 protein binding
 IPI molecular_function

Diseases

Associated diseases References
Conduct disorder PMID: 20585324
Endometrial cancer PMID: 23370654
Endometriosis PMID: 17563403
Endometriosis INFBASE15126568
Schizencephaly KEGG: H01160, OMIM: 600035

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
15126568 Endometrio
sis

EMX2
HOXA10
 Show abstract