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EN1 Gene

protein-coding   GIFtS: 56
GCID: GC02M119694

Engrailed Homeobox 1

  See EN1-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
Engrailed Homeobox 11 2
Homeobox Protein En-12 3
Engrailed Homolog 12
Homeobox Protein Engrailed-12
hu-En-12
Hu-En-13

External Ids:    HGNC: 33421   Entrez Gene: 20192   Ensembl: ENSG000001630647   OMIM: 1312905   UniProtKB: Q059253   

Export aliases for EN1 gene to outside databases

Previous GC identifers: GC02M116805 GC02M117520 GC02M119506 GC02M119315 GC02M111924


(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 EN1 Gene:
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. Different mutations in the mouse homologs, En1 and En2, produced different developmental
defects that frequently are lethal. The human engrailed homologs 1 and 2 encode homeodomain-containing proteins
and have been implicated in the control of pattern formation during development of the central nervous system.
(provided by RefSeq, Jul 2008)

GeneCards Summary for EN1 Gene:
EN1 (engrailed homeobox 1) is a protein-coding gene. Diseases associated with EN1 include tyrosinemia type iii, and congenital central hypoventilation syndrome. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is NOTO.

Gene Wiki entry for EN1 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 at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the EN1 gene promoter:
         GR   USF1   USF2   CUTL1   USF-1:USF-2   Roaz   USF-1   GR-alpha   NF-kappaB1   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEN1 promoter sequence
   Search Chromatin IP Primers for EN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EN1


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

Entrez Gene cytogenetic band: 2q14.2   Ensembl cytogenetic band:  2q14.2   HGNC cytogenetic band: 2q14.2

EN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EN1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M119694:  view genomic region     (about GC identifiers)

Start:
119,599,747 bp from pter      End:
119,605,759 bp from pter
Size:
6,013 bases      Orientation:
minus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: HME1_HUMAN, Q05925 (See protein sequence)
Recommended Name: Homeobox protein engrailed-1  
Size: 392 amino acids; 40115 Da
Secondary accessions: Q4ZG44

Explore the universe of human proteins at neXtProt for EN1: NX_Q05925

Explore proteomics data for EN1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See EN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001417.3  
    ENSEMBL proteins: 
     ENSP00000295206  

    EN1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for EN1
    OriGene Custom MassSpec
    OriGene Custom Protein Services for EN1
    GenScript Custom Purified and Recombinant Proteins Services for EN1
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for EN1

     
    Search eBioscience for Proteins for EN1 

     
    antibodies-online proteins for EN1 (4 products) 

     
    antibodies-online peptides for EN1

    EN1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of EN1
    Browse R&D Systems for Antibodies
    OriGene Antibodies for EN1
    OriGene Custom Antibody Services for EN1
    Novus Biologicals EN1 Antibodies
    Abcam antibodies for EN1
    Cloud-Clone Corp. Antibodies for EN1
    ThermoFisher Antibodies for EN1
    antibodies-online antibodies for EN1 (8 products) 

    EN1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for EN1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for EN1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for EN1
    Cloud-Clone Corp. CLIAs for EN1
    Search eBioscience for ELISAs for EN1 
    antibodies-online kits for EN1 (6 products) 


    (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

    Selected InterPro protein domains (see all 7):
     IPR019737 Homoebox-engrailed_CS
     IPR019549 Homeobox-engrailed_C-terminal
     IPR017970 Homeobox_CS
     IPR001356 Homeobox_dom
     IPR020479 Homeobox_metazoa

    Graphical View of Domain Structure for InterPro Entry Q05925

    ProtoNet protein and cluster: Q05925

    2 Blocks protein domains:
    IPB000047 Lambda and other repressor helix-turn-helix signature
    IPB000747 'Homeobox' engrailed-type protein


    UniProtKB/Swiss-Prot: HME1_HUMAN, Q05925
    Similarity: Belongs to the engrailed homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    Find genes that share domains with EN1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:
         Genatlas biochemistry entry for EN1:
    Drosophila segment-polarity gene engrailed homolog 1,homeo domain encoding gene,expressed in embryonic ventral
    limb ectoderm,regulator of the ventral limb patterning,inhibits WNT7A expression in ventral limb bud

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0043565sequence-specific DNA binding IEA--
         
    Find genes that share ontologies with EN1           About GenesLikeMe


    Phenotypes:
         17 MGI mutant phenotypes (inferred from 16 alleles(MGI details for En1) (see first 15):
     behavior/neurological  cardiovascular system  cellular  embryogenesis  endocrine/exocrine gland 
     growth/size/body  hematopoietic system  homeostasis/metabolism  immune system  integument 
     limbs/digits/tail  mortality/aging  nervous system  normal  pigmentation 
     reproductive system  skeleton 

    Find genes that share phenotypes with EN1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out En1tm1Alj for EN1

       genOway: Develop your customized and physiologically relevant rodent model for EN1

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat EN1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate EN1 (see all 28):
    hsa-miR-181c hsa-miR-300 hsa-miR-128 hsa-miR-29c hsa-miR-29a hsa-miR-944 hsa-miR-374a hsa-miR-624
    SwitchGear 3'UTR luciferase reporter plasmidEN1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for EN1
    Predesigned siRNA for gene silencing in human, mouse, rat EN1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for EN1

    Clone
    Products:
         
    OriGene clones in human, mouse for EN1 (see all 6)
    OriGene ORF clones in mouse, rat for EN1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: EN1 (NM_001426)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EN1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for EN1
    Browse ESI BIO Cell Lines and PureStem Progenitors for EN1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EN1


    (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
    HME1_HUMAN, Q05925: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol1
    extracellular1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0016020membrane IEA--

    Find genes that share ontologies with EN1           About GenesLikeMe


    (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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    SuperPaths for EN1 About    
    See pathways by source

    SuperPathContained pathways About
    1SIDS Susceptibility Pathways
    SIDS Susceptibility Pathways


    1 BioSystems Pathway for EN1
        SIDS Susceptibility Pathways


        Pathway & Disease-focused RT2 Profiler PCR Array including EN1: 
              Homeobox (HOX) Genes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for EN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for EN1 (Q059253 ENSP000002952064) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    JUNP054123, ENSP000003602664I2D: score=2 STRING: ENSP00000360266
    TLE1Q047243, ENSP000003656824I2D: score=1 STRING: ENSP00000365682
    PAX6P263673, ENSP000003684014I2D: score=2 STRING: ENSP00000368401
    EN2ENSP000002973754STRING: ENSP00000297375
    GLI2ENSP000003545864STRING: ENSP00000354586
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development TAS8684466
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0009653anatomical structure morphogenesis TAS8094370
    GO:0009953dorsal/ventral pattern formation IEA--
    GO:0009954proximal/distal pattern formation IEA--

    Find genes that share ontologies with EN1           About GenesLikeMe



    (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 EN1 (HME1)



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for EN1 gene: 
    NM_001426.3  

    Unigene Cluster for EN1:

    Engrailed homeobox 1
    Hs.271977  [show with all ESTs]
    Unigene Representative Sequence: NM_001426
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000295206(uc002tlm.3) ENST00000546667
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat EN1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate EN1 (see all 28):
    hsa-miR-181c hsa-miR-300 hsa-miR-128 hsa-miR-29c hsa-miR-29a hsa-miR-944 hsa-miR-374a hsa-miR-624
    SwitchGear 3'UTR luciferase reporter plasmidEN1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for EN1
    Predesigned siRNA for gene silencing in human, mouse, rat EN1
    Clone
    Products:
         
    OriGene clones in human, mouse for EN1 (see all 6)
    OriGene ORF clones in mouse, rat for EN1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: EN1 (NM_001426)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EN1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for EN1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EN1
      QuantiTect SYBR Green Assays in human, mouse, rat EN1
      QuantiFast Probe-based Assays in human, mouse, rat EN1

    2 DOTS entries:

    DT.441697  DT.92415194 

    6 AceView cDNA sequences:

    AI924297 AI287694 AI283135 NM_001426 AA853350 BU617408 

    GeneLoc Exon Structure


    (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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    EN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    EN1 Expression
    About this image


    EN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 23) fully expand
     
     Brain (Nervous System)    fully expand to see all 21 entries
             Dopaminergic Progenitor Cells Substantia Nigra pars Compacta
             Hippocampus
             Dopaminergic neuron-like cells
     
     Dermis (Integumentary System)    fully expand to see all 15 entries
             Dermal Mesenchyme Cells Dorsal Subectodermal Mesenchyme
     
     Neurons
             Dopaminergic Progenitor Cells Substantia Nigra pars Compacta
             Dopaminergic neuron-like cells
     
     Neural Tube (Nervous System)    fully expand to see all 15 entries
             Late Floor Plate Cells Mesencephalic Floor Plate
             Metencephalon
             Midbrain neural progenitor-like cells
     
     Somite (Muscoskeletal System)    fully expand to see all 8 entries
             Dermal Progenitor Cells Sacral Dorsomedial Dermomyotome Lip
    EN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.271977
        Pathway & Disease-focused RT2 Profiler PCR Array including EN1: 
              Homeobox (HOX) Genes in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for EN1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EN1
    QuantiTect SYBR Green Assays in human, mouse, rat EN1
    QuantiFast Probe-based Assays in human, mouse, rat EN1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EN1

    (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 EN1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia En11 , 5 engrailed 11, 5 83.67(n)1
    88(a)1
      1 (52.74 cM)5
    137981  NM_010133.21  NP_034263.21 
     1206024185 
    chicken
    (Gallus gallus)
    Aves EN16
    engrailed homeobox 1
    95(a)
    1 ↔ 1
    7(28021767-28026638)
    lizard
    (Anolis carolinensis)
    Reptilia EN16
    engrailed homeobox 1
    98(a)
    1 ↔ 1
    1(83055481-83055798)
    African clawed frog
    (Xenopus laevis)
    Amphibia en1-A2 engrailed homolog 1 80.85(n)    D14693.1 
    zebrafish
    (Danio rerio)
    Actinopterygii eng1b1 engrailed 1b 72.58(n)
    84.4(a)
      541371  NM_001013498.2  NP_001013516.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta en3 neuroblast determination specific RNA
    polymerase more
    70(a)
    (best of 2)
        --
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-166
    Protein CEH-16 (ceh-16) mRNA, complete cds
    41(a)
    1 → many
    III(8622658-8626000) WBGene00000439


    ENSEMBL Gene Tree for EN1 (if available)
    TreeFam Gene Tree for EN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EN1 gene
    NOTO2  EMX22  VAX12  EMX12  VAX22  EN22  
    2 SIMAP similar genes for EN1 using alignment to 1 protein entry:     HME1_HUMAN:
    POU6F1    EN2

    Find genes that share paralogs with EN1           About GenesLikeMe



    (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 EN1 (see all 159)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1890523001,2
    --119599277(+) AAGTGC/TCCCTC 1 -- ds50010--------
    rs130052421,2
    C,F--119599377(+) ATAAAA/TGAAAG 1 -- ds500110Minor allele frequency- T:0.23NA WA CSA EA 372
    rs1469680831,2
    --119599436(+) GGAGGC/TCGCCA 1 -- ds50010--------
    rs1812448221,2
    --119599521(+) GTCGGC/TCTTTG 1 -- ds50010--------
    rs1379883951,2
    --119599535(+) TCCCTG/TGAACG 1 -- ds50010--------
    rs562062901,2
    C,F--119599590(+) CTAAAC/ACCAAA 1 -- ds50012Minor allele frequency- A:0.19NA 122
    rs1122463441,2
    C,F--119599601(+) TCTGGG/ATCGCG 1 -- ds50011Minor allele frequency- A:0.50NA 2
    rs130059381,2
    C,A--119599735(+) AGGAGA/GGCCGC 1 -- ds50017Minor allele frequency- G:0.46NA WA EA 366
    rs1431394061,2
    --119599997(+) GCCGGA/CGATGC 1 -- ut310--------
    rs1849457141,2
    --119600025(+) AGAAGC/TAATGA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for EN1 (119599747 - 119605759 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for EN1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv874956CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EN1
    DNA2.0 Custom Variant and Variant Library Synthesis for EN1

    (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.)
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    OMIM gene information: 131290    OMIM disorders: --

    5 diseases for EN1:    
    About MalaCards
    tyrosinemia type iii    congenital central hypoventilation syndrome    central hypoventilation syndrome    tyrosinemia
    sudden infant death syndrome

    2 diseases from the University of Copenhagen DISEASES database for EN1:
    Parkinson's disease     Tyrosinemia type III

    Find genes that share disorders with EN1           About GenesLikeMe

    2 Novoseek inferred disease relationships for EN1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sudden infant death syndrome 38.2 1 9056537 (1)
    congenital malformation 18.7 1 11815869 (1)

    Genetic Association Database (GAD): EN1
    Human Genome Epidemiology (HuGE) Navigator: EN1 (9 documents)

    Export disorders for EN1 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 EN1 gene, integrated from 10 sources (see all 59):
    (articles sorted by number of sources associating them with EN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Polymorphisms of coding trinucleotide repeats of homeogenes in neurodevelopmental psychiatric disorders. (PubMed id 19018235)1, 4, 9 Laroche F....Robel L. (Psychiatr. Genet. 2008)
    2. Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development. (PubMed id 15240857)1, 4, 9 Weese-Mayer D.E....Marazita M.L. (Pediatr. Res. 2004)
    3. Cloning and sequence comparison of the mouse, human, and chicken engrailed genes reveal potential functional domains and regulatory regions. (PubMed id 1363401)1, 2, 9 Logan C....Joyner A.L. (Dev. Genet. 1992)
    4. Association of transcription factor polymorphisms PITX3 and EN1 with Parkinson's disease. (PubMed id 19345444)1, 4 Haubenberger D....Zimprich A. (Neurobiol. Aging 2011)
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PubMed id 19010793)1, 4 Baranzini S.E....Oksenberg J.R. (Hum. Mol. Genet. 2009)
    7. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)
    8. Regional assignment of the human homeobox-containing gene EN1 to chromosome 2q13-q21. (PubMed id 8094370)1, 3 KAPhler A....Muenke M. (Genomics 1993)
    9. Model-based gene selection shows engrailed 1 is associated with antipsychotic response. (PubMed id 18698228)1, 9 Webb B.T....van den Oord E.J. (Pharmacogenet. Genomics 2008)
    10. Deregulated expression of PAX5 in medulloblastoma. (PubMed id 7777574)1, 9 Kozmik Z....Aguzzi A. (Proc. Natl. Acad. Sci. U.S.A. 1995)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2019 HGNC: 3342 AceView: EN1 Ensembl:ENSG00000163064 euGenes: HUgn2019
    ECgene: EN1 H-InvDB: EN1

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for EN1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for EN1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for EN1 gene:
    Search GeneIP for patents involving EN1

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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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