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

EN1 Gene

protein-coding   GIFtS: 57
GCID: GC02M119694

Engrailed Homeobox 1
Alzheimer's & Parkinson's Diseases Congress
  16 related diseases
at
MalaCards
 

Aliases
for EN1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section
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


Summaries
for EN1 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 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


Genomic Views
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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_022135.16  
Regulatory elements:
   SABiosciences 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 plasmid: EN1 promoter sequence
   Search SABiosciences Chromatin IP Primers for EN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for EN1 gene

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section
UniProtKB/Swiss-Prot: HME1_HUMAN, Q05925 (See protein sequence)
Recommended Name: Homeobox protein engrailed-1  
Size: 392 amino acids; 40115 Da
Subcellular location: Nucleus
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q05925

    • EN1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EN1 Protein Expression
    REFSEQ proteins: NP_001417.3  
    ENSEMBL proteins: 
     ENSP00000295206  

    Human Recombinant Protein Products for EN1: 
    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 

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

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

    EN1 for ontologies           About GeneDecksing



    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
    GenScript Superior Antibodies for EN1
    Novus Biologicals EN1 Antibodies
    Abcam antibodies for EN1
    Cloud-Clone Corp. Antibodies for EN1 
    ThermoFisher Antibodies for EN1
    LSBio Antibodies in human, mouse, rat for EN1 

    Assay Products for EN1: 
    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

    Protein Domains /
    Families
    for EN1 gene

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

    5/7 InterPro protein domains (see all 7):
     IPR019737 Homoebox-engrailed_CS
     IPR019549 Homeobox-engrailed_C-terminal
     IPR017970 Homeobox_CS
     IPR020479 Homeobox_metazoa
     IPR001356 Homeodomain

    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


    EN1 for domains           About GeneDecksing


    Function
    for EN1 gene

    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section
    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 (GO ID links to tree view):    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--
         
    EN1 for ontologies           About GeneDecksing


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

    EN1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out En1tm1Alj for EN1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for EN1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for EN1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EN1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EN1 

    miRNA
    Products:            		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EN1
    8/28 QIAGEN miScript miRNA 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 plasmid: EN1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for EN1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EN1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for EN1
    Sirion Biotech Customized adenovirus for overexpression of EN1

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    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
    Sirion Biotech Customized lentivirus for stable overexpression of EN1 
                         Customized lentivirus expression plasmids for stable overexpression of EN1 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for EN1
    Search LifeMap BioReagents cell lines for EN1
    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EN1


    Pathways & Interactions
    for EN1 gene

    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    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


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EN1

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

    4 Interacting proteins for EN1 (Q059253 ENSP000002952064) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    JUNP054123, ENSP000003602664I2D: score=2 STRING: ENSP00000360266
    TLE1Q047243, ENSP000003656824I2D: score=1 STRING: ENSP00000365682
    PAX6P263673, ENSP000003684014I2D: score=2 STRING: ENSP00000368401
    HDAC1ENSP000003626494STRING: ENSP00000362649
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

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

    EN1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for EN1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 EN1 (HME1)

    Search CenterWatch for drugs/clinical trials and news about EN1 / HME1

    Transcripts
    for EN1 gene

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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:             		 QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EN1
    8/28 QIAGEN miScript miRNA 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 plasmid: EN1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for EN1
    QIAGEN FlexiTube/FlexiPlate 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
    Sirion Biotech Customized lentivirus for stable overexpression of EN1 
                         Customized lentivirus expression plasmids for stable overexpression of EN1 
    Primer
    Products:            		OriGene qSTAR qPCR primer pairs in human, mouse for EN1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat EN1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EN1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EN1

    2 DOTS entries:

    DT.441697  DT.92415194 

    6 AceView cDNA sequences:

    AI924297 NM_001426 AI283135 AI287694 AA853350 BU617408 

    GeneLoc Exon Structure


    Expression
    for EN1 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

    EN1 expression in normal human tissues (normalized intensities)      EN1 embryonic expression: see
    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 
     5/51 selected tissues (see all 51) fully expand
     
     Brain (Nervous System)    fully expand to see all 32 entries
             Embryonic Dopaminergic Neurons Ventral Tegmental Area
             Thalamus
             Substantia Nigra   
     
     Neural Tube (Nervous System)    fully expand to see all 16 entries
             Late Floor Plate Cells Mesencephalic Floor Plate
             Metencephalon
             brain/midbrain/lateral wall   
     
     Dermis (Integumentary System)    fully expand to see all 15 entries
             Dermal Mesenchyme Cells Dorsal Subectodermal Mesenchyme
     
     Somite (Muscoskeletal System)    fully expand to see all 8 entries
             Dermal Progenitor Cells Sacral Dorsomedial Dermomyotome Lip
     
     Neural Ectoderm (Nervous System)    fully expand to see all 7 entries
             Isthmus Cells Neural Plate

    See EN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EN1

    SOURCE GeneReport for Unigene cluster: Hs.271977
        SABiosciences Expression via Pathway-Focused PCR Array including EN1: 
              Homeobox (HOX) Genes in human mouse rat

    Primer
    Products:    		OriGene qSTAR qPCR primer pairs in human, mouse for EN1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat EN1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EN1
    QIAGEN 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
    for EN1 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 EN1 gene from 7/14 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 88.49(n)1
    95.1(a)1    		   1 (52.74 cM)5
    137981  NM_010133.21  NP_034263.21 
     1206024185 
    chicken
    (Gallus gallus)    		 Aves EN11 engrailed homeobox 1 67.27(n)
    63.64(a)    		   771008  XM_001234328.2  XP_001234329.2 
    lizard
    (Anolis carolinensis)    		 Reptilia EN16
    		 Uncharacterized protein
    		 97(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 62.57(n)
    67.86(a)    		   541371  NM_001013498.1  NP_001013516.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta en3
    inv1    		 neuroblast determination specific RNA
    polymerase more3
    invected1    		 70(a)
    (best of 2)3
    49.47(n)1
    42.69(a)1    		   362391  NM_165839.21  NP_725057.21 
    worm
    (Caenorhabditis elegans)    		 Secernentea ceh-166
    		 Homeobox protein engrailed-like ceh-16
    		 37(a)
    		 possible ortholog
    		 III(8622658-8626000)


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

    Paralogs
    for EN1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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

    EN1 for paralogs           About GeneDecksing



    Genomic Variants
    for EN1 gene

    (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) 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

    10/159 SNPs in EN1 are shown (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

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing EN1
    DNA2.0 Custom Variant and Variant Library Synthesis for EN1

    Disorders / Diseases
    for EN1 gene

    (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.)
    About This Section
    		 OMIM gene information: 131290    OMIM disorders: --

    16 diseases for EN1:    About MalaCards
    tyrosinemia type iii    congenital central hypoventilation syndrome    central hypoventilation syndrome    bullous pemphigoid
    tyrosinemia    cerebellar hypoplasia    sudden infant death syndrome    joubert syndrome
    adenoid cystic carcinoma    medulloblastoma    adenoiditis    parkinson's disease
    astrocytoma    retinitis    colorectal cancer    neuronitis

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

    EN1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    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

    Publications
    for EN1 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 EN1 gene, integrated from 9 sources (see all 60):
    (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. (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. (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. (1992)
    4. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    5. Association of transcription factor polymorphisms PITX3 and EN1 with Parkinson's disease. (PubMed id 19345444)1, 4 Haubenberger D....Zimprich A. (2009)
    6. 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. (2009)
    7. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PubMed id 19010793)1, 4 Baranzini S.E....Oksenberg J.R. (2008)
    8. Regional assignment of the human homeobox-containing gene EN1 to chromosome 2q13-q21. (PubMed id 8094370)1, 3 Kohler A....Muenke M. (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. (2008)
    10. Deregulated expression of PAX5 in medulloblastoma. (PubMed id 7777574)1, 9 Kozmik Z....Aguzzi A. (1995)

    External Searches for EN1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Genome Databases showing EN1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2019 HGNC: 3342 AceView: EN1 Ensembl:ENSG00000163064 euGenes: HUgn2019
    ECgene: EN1 H-InvDB: EN1

    Other Databases showing EN1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing EN1 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 EN1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for EN1 Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for EN1 gene

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

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



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    About This Section

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