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EMX2 Gene

protein-coding   GIFtS: 57
GCID: GC10P119291

Empty Spiracles Homeobox 2

(Previous name: empty spiracles homolog 2 (Drosophila))
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Empty Spiracles Homeobox 21 2
Empty Spiracles Homolog 22 3
Empty Spiracles-Like Protein 22 3
Empty Spiracles Homolog 2 (Drosophila)1
Homeobox Protein EMX22

External Ids:    HGNC: 33411   Entrez Gene: 20182   Ensembl: ENSG000001703707   OMIM: 6000355   UniProtKB: Q047433   

Export aliases for EMX2 gene to outside databases

Previous GC identifers: GC10P118220 GC10P118545 GC10P119433 GC10P118966 GC10P112930


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for EMX2 Gene:
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)

GeneCards Summary for EMX2 Gene:
EMX2 (empty spiracles homeobox 2) is a protein-coding gene. Diseases associated with EMX2 include schizencephaly, and pseudobulbar palsy. GO annotations related to this gene include transcription regulatory region sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is NOTO.

UniProtKB/Swiss-Prot: EMX2_HUMAN, Q04743
Function: Transcription factor, which in cooperation with EMX2, acts to generate the boundary between the roof and
archipallium in the developing brain. May function in combinations with OTX1/2 to specify cell fates in the
developing central nervous system

Gene Wiki entry for EMX2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000010.11  NC_018921.2  NT_030059.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the EMX2 gene promoter:
         E2F-4   E2F-3a   E2F-5   C/EBPalpha   CHOP-10   SRY   E2F   E2F-1   AP-2alpha isoform 4   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): EMX2 promoter sequence
   Search Chromatin IP Primers for EMX2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EMX2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q26.1   Ensembl cytogenetic band:  10q26.11   HGNC cytogenetic band: 10q26.11

EMX2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EMX2 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P119291:  view genomic region     (about GC identifiers)

Start:
119,301,955 bp from pter      End:
119,309,057 bp from pter
Size:
7,103 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: EMX2_HUMAN, Q04743 (See protein sequence)
Recommended Name: Homeobox protein EMX2  
Size: 252 amino acids; 28303 Da
Secondary accessions: G3V305 Q96NN8 Q9BQF4
Alternative splicing: 2 isoforms:  Q04743-1   Q04743-2   

Explore the universe of human proteins at neXtProt for EMX2: NX_Q04743

Explore proteomics data for EMX2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See EMX2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001159396.1  NP_004089.1  

    ENSEMBL proteins: 
     ENSP00000450962   ENSP00000474874  

    EMX2 Human Recombinant Protein Products:

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    Novus Biologicals EMX2 Lysate
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    Cloud-Clone Corp. Proteins for EMX2

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    EMD Millipore Mono- and Polyclonal Antibodies for the study of EMX2
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    Cloud-Clone Corp. ELISAs for EMX2
    Cloud-Clone Corp. CLIAs for EMX2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    NKL: Homeoboxes / ANTP class : NKL subclass

    5 InterPro protein domains:
     IPR000047 HTH_motif
     IPR017970 Homeobox_CS
     IPR001356 Homeobox_dom
     IPR020479 Homeobox_metazoa
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry Q04743

    ProtoNet protein and cluster: Q04743

    1 Blocks protein domain: IPB000047 Lambda and other repressor helix-turn-helix signature

    UniProtKB/Swiss-Prot: EMX2_HUMAN, Q04743
    Similarity: Belongs to the EMX homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    EMX2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EMX2_HUMAN, Q04743
    Function: Transcription factor, which in cooperation with EMX2, acts to generate the boundary between the roof and
    archipallium in the developing brain. May function in combinations with OTX1/2 to specify cell fates in the
    developing central nervous system

         Genatlas biochemistry entry for EMX2:
    Drosophila empty spiracles (ems) homolog 2,homeo domain encoding gene involved in brain development

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000976transcription regulatory region sequence-specific DNA binding IEA--
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI15247416
    GO:0043565sequence-specific DNA binding ----
         
    EMX2 for ontologies           About GeneDecksing


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 7 alleles(MGI details for Emx2) (see all 16):
     behavior/neurological  cardiovascular system  cellular  craniofacial  embryogenesis 
     endocrine/exocrine gland  hearing/vestibular/ear  mortality/aging  nervous system  no phenotypic analysis 
     renal/urinary system  reproductive system  respiratory system  skeleton  taste/olfaction 

    EMX2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for EMX2: Emx2tm1Pgr Emx2tm1Sia

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EMX2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for EMX2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EMX2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EMX2

    miRNA
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    miRTarBase miRNAs that target EMX2:
    hsa-mir-335-5p (MIRT017246)

    Block miRNA regulation of human, mouse, rat EMX2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate EMX2 (see all 36):
    hsa-miR-3152-3p hsa-miR-520f hsa-miR-301a hsa-miR-649 hsa-miR-34b hsa-miR-130b hsa-miR-181b hsa-miR-301b
    SwitchGear 3'UTR luciferase reporter plasmidEMX2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for EMX2
    Predesigned siRNA for gene silencing in human, mouse, rat EMX2

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for EMX2 (see all 10)
    OriGene ORF clones in mouse, rat for EMX2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): EMX2 (NM_004098)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EMX2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EMX2

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for EMX2 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EMX2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    EMX2_HUMAN, Q04743: Nucleus (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    EMX2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EMX2
    Interactions:

        GeneGlobe Interaction Network for EMX2

    4 Interacting proteins for EMX2 (Q047431, 3) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EIF4EP067301, 3EBI-399831,EBI-73440 I2D: score=2 
    GTF2A1LQ9UNN43I2D: score=1 
    MEIS1O004703I2D: score=1 
    TLE2Q047253I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0007275multicellular organismal development ----
    GO:0007420brain development ----
    GO:0009952anterior/posterior pattern specification IEA--
    GO:0010468regulation of gene expression ----

    EMX2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for EMX2



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for EMX2 gene (2 alternative transcripts): 
    NM_001165924.1  NM_004098.3  

    Unigene Cluster for EMX2:

    Empty spiracles homeobox 2
    Hs.202095  [show with all ESTs]
    Unigene Representative Sequence: NM_004098
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000553456 ENST00000442245 ENST00000546446
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat EMX2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate EMX2 (see all 36):
    hsa-miR-3152-3p hsa-miR-520f hsa-miR-301a hsa-miR-649 hsa-miR-34b hsa-miR-130b hsa-miR-181b hsa-miR-301b
    SwitchGear 3'UTR luciferase reporter plasmidEMX2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for EMX2
    Predesigned siRNA for gene silencing in human, mouse, rat EMX2
    Clone
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    OriGene clones in human, mouse for EMX2 (see all 10)
    OriGene ORF clones in mouse, rat for EMX2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): EMX2 (NM_004098)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EMX2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EMX2
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for EMX2
    OriGene qSTAR qPCR primer pairs in human, mouse for EMX2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EMX2
      QuantiTect SYBR Green Assays in human, mouse, rat EMX2
      QuantiFast Probe-based Assays in human, mouse, rat EMX2

    Additional mRNA sequence: 

    AF301598.1 AK055041.1 AK311352.1 AL161811.1 BC010043.2 X68880.1 

    3 DOTS entries:

    DT.210028  DT.100778435  DT.65285363 

    Selected AceView cDNA sequences (see all 63):

    BP873246 NM_004098 AI262934 AI536654 CR602505 AA649902 AI242313 AA025031 
    X68880 AF301598 CD677132 AI701984 AI699872 CB156782 AA626102 BI915552 
    AI859760 BC010043 BI759760 AW469971 CA395667 BX460754 BX279686 AI362902 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for EMX2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3
    SP1:                        
    SP2:              -         


    ECgene alternative splicing isoforms for EMX2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    EMX2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGCAGTTGT
    EMX2 Expression
    About this image


    EMX2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Kidney (Urinary System)    fully expand to see all 11 entries
             Ureteric Bud Cells Ureteric Bud
             Metanephros
             mK3
     
     Neural Tube (Nervous System)    fully expand to see all 6 entries
             Dorsal Telencephalic Progenitor Cells Dorsal Telencephalon
             Telencephalon
             Floor plate-like cells
     
     Gonad
             Coelomic Epithelial Cells Intraembryonic Coelom
             Mullerian duct
     
     Epithelial Cells
             Coelomic Epithelial Cells Intraembryonic Coelom
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)
             Coelomic Epithelial Cells Intraembryonic Coelom
    EMX2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EMX2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.202095

    UniProtKB/Swiss-Prot: EMX2_HUMAN, Q04743
    Tissue specificity: Cerebral cortex

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EMX2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for EMX2 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Emx21 , 5 empty spiracles homolog 2 (Drosophila)5
    empty spiracles homeobox 21
    94.18(n)1
    100(a)1
      19 (56.28 cM)5
    137971  NM_010132.21  NP_034262.21 
     594583725 
    chicken
    (Gallus gallus)
    Aves EMX21 empty spiracles homeobox 2 85.16(n)
    97.98(a)
      423923  XM_421783.3  XP_421783.2 
    lizard
    (Anolis carolinensis)
    Reptilia EMX26
    empty spiracles homeobox 2
    87(a)
    1 ↔ 1
    GL343206.1(1109603-1135606)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.86972 Xenopus laevis transcribed sequence with strong similarity more 80.34(n)    AW159244.1 
    zebrafish
    (Danio rerio)
    Actinopterygii emx22 empty spiracles homeobox 2 76.09(n)   30537  D32215.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta E56
    ems6
    empty spiracles
    21(a)
    21(a)
    many ↔ many
    many ↔ many
    3R(9693067-9700638)
    3R(9727581-9730346)
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-26
    Protein CEH-2 (ceh-2) mRNA, complete cds
    33(a)
    1 → many
    I(6046832-6050462) WBGene00000429


    ENSEMBL Gene Tree for EMX2 (if available)
    TreeFam Gene Tree for EMX2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EMX2 gene
    NOTO2  EN12  VAX12  EMX12  VAX22  EN22  
    2 SIMAP similar genes for EMX2 using alignment to 2 protein entries:     EMX2_HUMAN (see all proteins):
    EMX1    POU6F1

    EMX2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for EMX2 (see all 195)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1833776691,2
    --112928195(+) AAGACA/CTCCCC 2 -- us2k10--------
    rs348141471,2
    C--119306026(+) TAACGT/-TTTTT 2 -- int11Minor allele frequency- -:0.00NA 2
    rs3678719441,2
    C--119309365(+) AAAAA-/AAAACT 2 -- int10--------
    rs344850151,2
    C--119309366(+) TTATTA/-AAAAA 2 -- int12Minor allele frequency- -:0.25NA 4
    rs1468934501,2
    --119655430(+) TCCCCC/GCTCTG 2 -- us2k10--------
    rs763430051,2
    F--119655570(+) AGGTGC/GATCTT 2 -- us2k11Minor allele frequency- G:0.02WA 118
    rs1178912651,2
    F--119655612(+) AAAGCC/TCAGAA 2 -- us2k11Minor allele frequency- T:0.05NA 120
    rs797671211,2
    F--119655711(+) AACTTC/GGAAGC 2 -- us2k11Minor allele frequency- G:0.03WA 118
    rs115967941,2
    C,F,H--119655762(+) TGAGGC/TGCACA 2 -- us2k12Minor allele frequency- T:0.05NA 126
    rs7034111,2
    C,F,A,H--119656051(-) TTGAGG/AGGACA 2 -- us2k1 tfbs320Minor allele frequency- A:0.18NS EA NA WA 2352

    HapMap Linkage Disequilibrium report for EMX2 (119301955 - 119309057 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for EMX2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv832003CNV Loss17160897
    nsv520464CNV Loss19592680
    nsv825579CNV Gain20364138

    Human Gene Mutation Database (HGMD): EMX2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EMX2
    DNA2.0 Custom Variant and Variant Library Synthesis for EMX2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600035   
    OMIM disorders: 269160  
    UniProtKB/Swiss-Prot: EMX2_HUMAN, Q04743
  • Schizencephaly (SCHZC) [MIM:269160]: Extremely rare human congenital disorder characterized by a
    full-thickness cleft within the cerebral hemispheres. These clefts are lined with gray matter and most commonly
    involve the parasylvian regions. Large portions of the cerebral hemispheres may be absent and replaced by
    cerebro-spinal fluid. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for EMX2 (see all 25):    
    About MalaCards
    schizencephaly    pseudobulbar palsy    familial schizencephaly, emx2-related    neuronal migration disorders
    schizensephaly    focal epilepsy    periventricular nodular heterotopia    kallmann syndrome
    endometriosis    lissencephaly    lung adenocarcinoma    testicular cancer
    conduct disorder    choroiditis    bipolar disorder    ischemia
    schizophrenia    cerebritis    malaria    adenocarcinoma

    3 diseases from the University of Copenhagen DISEASES database for EMX2:
    Periventricular nodular heterotopia     Focal epilepsy     Lissencephaly

    EMX2 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for EMX2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    schizencephaly 93.9 17 17506092 (4), 9359037 (2), 9153481 (2), 15921232 (1) (see all 7)
    endometriosis 31.9 10 15126568 (6), 17563403 (4)
    tumors 4.78 3 12573261 (2), 17029216 (1)
    ischemia 0 1 16580139 (1)

    Genatlas disease: EMX2
    schizencephaly,severe

    Genetic Association Database (GAD): EMX2
    Human Genome Epidemiology (HuGE) Navigator: EMX2 (4 documents)

    Export disorders for EMX2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for EMX2 gene, integrated from 10 sources (see all 75):
    (articles sorted by number of sources associating them with EMX2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Comprehensive EMX2 genotyping of a large schizencephaly case series. (PubMed id 17506092)1, 4, 9 Tietjen I....Walsh C.A. (Am. J. Med. Genet. A 2007)
    2. Variants in EMX2 and PTEN do not contribute to risk of endometriosis. (PubMed id 17563403)1, 4, 9 Treloar S.A....Montgomery G.W. (Mol. Hum. Reprod. 2007)
    3. Chromosome locations of human EMX and OTX genes. (PubMed id 7959790)1, 3, 9 Kastury K....Boncinelli E. (Genomics 1994)
    4. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    5. Pathway-based approaches to imaging genetics association studies: Wnt signaling, GSK3beta substrates and major depression. (PubMed id 20219685)1, 4 Inkster B....Matthews P.M. (Neuroimage 2010)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Characterization of the homeodomain gene EMX2: sequence conservation, expression analysis and a search for mutations in endometrial cancers. (PubMed id 11549315)1, 2 Noonan F.C.... Goodfellow P.J. (Genomics 2001)
    8. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (Genome Res. 2001)
    9. Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. (PubMed id 8528262)1, 2 Brunelli S....Boncinelli E. (Nat. Genet. 1996)
    10. Two vertebrate homeobox genes related to the Drosophila empty spiracles gene are expressed in the embryonic cerebral cortex. (PubMed id 1352754)1, 2 Simeone A....Boncinelli E. (EMBO J. 1992)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 2018 HGNC: 3341 AceView: EMX2 Ensembl:ENSG00000170370 euGenes: HUgn2018
    ECgene: EMX2 H-InvDB: EMX2

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for EMX2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for EMX2 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=EMX2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for EMX2 gene:
    Search GeneIP for patents involving EMX2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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