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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

EMX2 Gene

protein-coding   GIFtS: 57
GCID: GC10P119291

empty spiracles homeobox 2

(Previous name: empty spiracles homolog 2 (Drosophila) )
 Explore 20 diseases affiliated with
EMX2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for EMX2    

Aliases
for EMX2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
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


Summaries
for EMX2 gene

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

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_030059.13  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for EMX2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
 119,309,441 bp from pter
Size:
 7,487 bases      Orientation:
 plus strand

Proteins
for EMX2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: EMX2_HUMAN, Q04743 (See protein sequence)
Recommended Name: Homeobox protein EMX2  
Size: 252 amino acids; 28303 Da
Subcellular location: Nucleus (Probable)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q04743

    • EMX2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000358202   ENSP00000450962  

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    Novus Biologicals EMX2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for EMX2

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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


    EMX2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for EMX2

    Protein Domains /
    Families
    for EMX2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    EMX2 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR000047 HTH_motif
     IPR017970 Homeobox_CS
     IPR020479 Homeobox_metazoa
     IPR001356 Homeodomain
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry Q04743

    ProtoNet protein and cluster: Q04743

    1 Blocks protein family: 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


    Function
    for EMX2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EMX2
    8/36 QIAGEN miScript miRNA 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 plasmid: EMX2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EMX2 (see all 7)
    OriGene shRNA RFP: EMX2
    OriGene siRNA: EMX2
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): EMX2 (NM_004098)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EMX2 

    Cell Line
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    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000976transcription regulatory region sequence-specific DNA binding IEA--
    GO:0003677DNA binding NAS--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI15247416


    EMX2 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for EMX2: Emx2tm1Pgr Emx2tm1Sia
         14 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Emx2):
     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  skeleton  vision/eye 

    EMX2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for EMX2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EMX2

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for EMX2 (Q047431, 3 ENSP000003582024) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EIF4EP067301, 3, ENSP000002808924EBI-399831,EBI-73440 I2D: score=2 STRING: ENSP00000280892
    GTF2A1LQ9UNN43, ENSP000003845974I2D: score=1 STRING: ENSP00000384597
    MEIS1O004703, ENSP000002723694I2D: score=1 STRING: ENSP00000272369
    TLE2Q047253, ENSP000002629534I2D: score=1 STRING: ENSP00000262953
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007275multicellular organismal development NAS--
    GO:0007420brain development ----
    GO:0009952anterior/posterior pattern specification IEA--
    GO:0010468regulation of gene expression ----
    GO:0021542dentate gyrus development IEA--


    EMX2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for EMX2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for EMX2
    Search CenterWatch for drugs/clinical trials and news about EMX2 

    Transcripts
    for EMX2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369201(uc001ldh.4 uc001ldi.4) ENST00000442245 ENST00000546446
    ENST00000553456

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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EMX2
    8/36 QIAGEN miScript miRNA 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 plasmid: EMX2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EMX2 (see all 7)
    OriGene shRNA RFP: EMX2
    OriGene siRNA: EMX2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EMX2
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): EMX2 (NM_004098)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EMX2 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EMX2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EMX2

    Additional cDNA sequence: 

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

    3 DOTS entries:

    DT.210028  DT.100778435  DT.65285363 

    24/63 AceView cDNA sequences (see all 63):

    AI536654 CD677132 NM_004098 AI262934 AI242313 AI701984 CR602505 AI699872 
    AA025031 BP873246 AA649902 X68880 AF301598 AI767396 AA626102 BX460754 
    CA395667 BX279686 AI859760 CB217009 AW052180 AL161811 AI434793 AA479064 

    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

    Expression
    for EMX2 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    EMX2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAGCAGTTGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    EMX2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/18 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 18) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Lateral Plate MesodermIntraembryonic CoelomCoelomic Epithelial CellsReproductive System
    KidneyUreteric BudUreteric Bud CellsKidney
    KidneyWolffian DuctWolffian Duct CellsKidney
    Gut TubeForegutForegut Endoderm CellsEndoderm
    KidneyRenal Collecting Duct SystemCollecting Duct CellsKidney
    KidneyUreteric BudUreteric Bud Tip CellsKidney
    BoneAutopod Long BoneBone
    BrainHypothalamusBrain
    BrainThalamusBrain
    KidneyEpithelial TubuleKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 4 LifeMap Cells 
    NameCategory
    mK3 (Cell line)Kidney
    mK4 (Cell line)Kidney
    N2/LSB induced-cells (Generation of midbra...)
    Dorsal forebrain-like neurons (Generation of midbra...)Brain

    See EMX2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EMX2

    SOURCE GeneReport for Unigene cluster: Hs.202095

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

        SABiosciences Custom PCR Arrays for EMX2
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    In Situ
    Assay Products:     
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    Orthologs
    for EMX2 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for EMX2 gene from 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves EMX21 empty spiracles homeobox 2 85.16(n)
    97.98(a)    		   423923  XM_421783.2  XP_421783.2 
    lizard
    (Anolis carolinensis)    		 Reptilia EMX26
    		 --
    		 85(a)
    		 1 ↔ 1
    		 GL343206.1(1110929-1135606)
    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 ems1 empty spiracles 51.99(n)
    48.37(a)    		   41697  NM_169560.1  NP_731868.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea ceh-626
    ceh-26
    (see all 3)    		 Homeobox family member (ceh-2)
    (see all 3)    		 9(a)
    34(a)
    (see all 3)    		 possible ortholog
    1 ↔ many
    (see all 3)    		 II(10805335-10809933)
    I(6046834-6050464)


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

    Paralogs
    for EMX2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EMX2 gene
    NOTO2  NKX6-32  NKX6-12  NKX6-22  EMX12  
    2 SIMAP similar genes for EMX2 using alignment to 2 protein entries:     EMX2_HUMAN (see all proteins):
    EMX1    POU6F1

    EMX2 for paralogs           About GeneDecksing



    Genomic Variants
    for EMX2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/148 NCBI SNPs in EMX2 are shown (see all 148)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 10 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs763430051,2
    		F,--112928341(+) AGGTGC/GATCTT 2 -- us2k11Minor allele frequency- G:0.02WA 118
    rs797671211,2
    		F,--112928482(+) AACTTC/GGAAGC 2 -- us2k11Minor allele frequency- G:0.03WA 118
    rs115967941,2
    		C,F,H,--112928533(+) TGAGGC/TGCACA 2 -- us2k12Minor allele frequency- T:0.05NA 126
    rs2429531,2
    		C,F,--112928920(-) GGTGAC/TTAGGT 2 -- us2k13Minor allele frequency- T:0.15WA CSA 122
    rs741593081,2
    		C,--112929690(+) GGACCG/TCGAGG 2 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1112909021,2
    		C,--112929724(+) AGGACC/TCCGTA 2 -- us2k13Minor allele frequency- T:0.03NA WA 240
    rs763930591,2
    		F,--112929750(+) TCCCTC/TCTGGC 2 -- us2k11Minor allele frequency- T:0.05NA 120
    rs22866291,2
    		C,F,A,H,--112929931(-) CAGACA/CGATTC 2 -- us2k19Minor allele frequency- C:0.13NA WA CSA EA 369
    rs81926441,2
    		C,--112931533(+) GGCTCG/ACGGGC 2 -- int13Minor allele frequency- A:0.03NA EA 242
    rs81926451,2
    		C,--112931587(+) GGTGTC/GGATCC 2 -- int10--------

    HapMap Linkage Disequilibrium report for EMX2 (119301955 - 119309441 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for EMX2: --
    Human Gene Mutation Database (HGMD): EMX2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing EMX2
    DNA2.0 Custom Variant and Variant Library Synthesis for EMX2

    Disorders / Diseases
    for EMX2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    EMX2 for disorders           About GeneDecksing

    OMIM gene information: 600035   
    OMIM disorders: 269160  
    UniProtKB/Swiss-Prot: EMX2_HUMAN, Q04743
  • Defects in EMX2 are the cause of schizencephaly (SCHZC) [MIM:269160]. Schizencephaly is an 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

    20 diseases for EMX2:    About MalaCards
    periventricular nodular heterotopia    schizencephaly    pseudobulbar palsy    neuronal migration disorders
    heterotopia    brain malformations    kallmann syndrome    bipolar disorder
    lissencephaly    testicular cancer    endometriosis    endometrial cancer
    lung adenocarcinoma    choroiditis    pharyngitis    lung cancer
    adenocarcinoma    cerebritis    schizophrenia    neuronitis

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

    4 Novoseek 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

    Human Genome Epidemiology (HuGE) Navigator: EMX2 (4 documents)

    Export disorders for EMX2 gene to outside databases

    Publications
    for EMX2 gene

    (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)
    About This Section

    PubMed articles for EMX2 gene, integrated from 9 sources (see all 68):
    (articles sorted by number of sources associating them with EMX2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Chromosome locations of human EMX and OTX genes. (PubMed id 7959790)1, 3, 9 Kastury K....Boncinelli E. (1994)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. 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. (2001)
    4. 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. (2001)
    5. Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. (PubMed id 8528262)1, 2 Brunelli S....Boncinelli E. (1996)
    6. 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. (1992)
    7. EMX2 gene expression in the female reproductive tract and aberrant expression in the endometrium of patients with endometriosis. (PubMed id 15126568)1, 9 Daftary G.S. and Taylor H.S. (2004)
    8. Antisense transcripts at the EMX2 locus in human and mouse. (PubMed id 12573261)1, 9 Noonan F.C....Simon T.C. (2003)
    9. Transcriptional repression of peri-implantation EMX2 expression in mammalian reproduction by HOXA10. (PubMed id 12482956)1, 9 Troy P.J....Taylor H.S. (2003)
    10. Comprehensive EMX2 genotyping of a large schizencephaly case series. (PubMed id 17506092)1, 9 Tietjen I....Walsh C.A. (2007)

    External Searches for EMX2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing EMX2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2018 HGNC: 3341 AceView: EMX2 Ensembl:ENSG00000170370 euGenes: HUgn2018
    ECgene: EMX2 H-InvDB: EMX2

    Other Databases showing EMX2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing EMX2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/EMX2

    Intellectual Property
    for EMX2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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