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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
 Explore 14 diseases affiliated with
EN1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for EN1    

Aliases
for EN1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Engrailed Homeobox 11 2
Homeobox Protein En-12 3
Engrailed Homolog 12
Homeobox Protein Engrailed-12
Hu-En-13
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:
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)

Gene Wiki entry for EN1


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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  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 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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q05925

    • EN1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001417.3  
    ENSEMBL proteins: 
     ENSP00000295206  

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    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: EN1
    OriGene Custom Protein Services for EN1 
    GenScript Custom Purified and Recombinant Proteins Services for EN1
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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
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    Novus Biologicals EN1 Antibodies
    Abcam antibodies for EN1 
    Uscn Antibodies for EN1
    ThermoFisher Antibodies for EN1

    Assay Products for EN1: 
    Browse Kits and Assays available from EMD Millipore
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    Browse OriGene Fluorogenic Cell Assay Kits
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    GenScript Custom Assay Services for EN1
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for EN1

    Protein Domains /
    Families
    for EN1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    EN1 for domains           About GeneDecksing

    5/7 InterPro domains/families (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 families:
    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


    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,
    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:
         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

    miRNA
    Products:            		Browse 3'-UTR reporter clones for miRNA target validation
    Browse MicroRNA Expression Plasmids
    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 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EN1 (see all 4)
    OriGene shRNA RFP: EN1
    OriGene siRNA: EN1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EN1

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

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EN1 (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, 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
    Search LifeMap BioReagents cell lines for EN1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EN1

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0043565sequence-specific DNA binding IEA--


    EN1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out En1tm1Alj for EN1
         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


    Pathways & Interactions
    for EN1 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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1SIDS Susceptibility Pathways
    		SIDS Susceptibility Pathways1.00


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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development TAS8684466
    GO:0009653anatomical structure morphogenesis TAS8094370
    GO:0009953dorsal/ventral pattern formation IEA--
    GO:0009954proximal/distal pattern formation IEA--
    GO:0030182neuron differentiation ----


    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, 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
    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 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 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:             		Browse 3'-UTR reporter clones for miRNA target validation
    Browse OriGene MicroRNA Expression Plasmids
    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 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EN1 (see all 4)
    OriGene shRNA RFP: EN1
    OriGene siRNA: EN1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EN1
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EN1 (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, 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 genome-wide validated SYBR primer pairs in human, mouse, rat for EN1
    Browse OriGene validated miRNA SYBR primer pairs
    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 AI287694 AI283135 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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    EN1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/22 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 22) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainSubstantia Nigra pars CompactaAdult Dopaminergic NeuronsDopaminergic neurons
    BrainSubstantia Nigra pars CompactaDopaminergic Progenitor CellsDopaminergic neurons
    BrainSubstantia Nigra pars CompactaEmbryonic Dopaminergic NeuronsDopaminergic neurons
    BrainVentral Tegmental AreaAdult Dopaminergic NeuronsDopaminergic neurons
    BrainVentral Tegmental AreaDopaminergic Progenitor CellsDopaminergic neurons
    BrainVentral Tegmental AreaEmbryonic Dopaminergic NeuronsDopaminergic neurons
    Neural TubeDiencephalic Floor PlateEarly Caudal Floor Plate CellsNeural Ectoderm
    Neural TubeDiencephalic Floor PlateLate Caudal Floor Plate CellsNeural Ectoderm
    Neural TubeDiencephalic Ventricular ZoneMeso-diencephalic Dopaminergic Precursor CellsDopaminergic neurons
    Neural TubeMesencephalic Floor PlateEarly Floor Plate CellsNeural Ectoderm
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    Midbrain neural progenitor-like cells (Differentiation of h...)
    Motor neuron-like cells (Generation of motor ...)Motor Neurons, Spinal Cord
    Motor neuron progenitors (Differentiation of ...)

    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 genome-wide validated SYBR primer pairs in human, mouse, rat for EN1
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    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 7/19 species (see all 19)    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
    		 --
    		 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 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
    		 39(a)
    		 1 → many
    		 III(8622578-8625920)


    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
    VAX12  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, 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

    10/116 NCBI SNPs in EN1 are shown (see all 116)     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,--119599590(+) CTAAAC/ACCAAA 1 -- ds50012Minor allele frequency- A:0.19NA 122
    rs1122463441,2
    		C,--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 (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for EN1: --

    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    EN1 for disorders           About GeneDecksing

    OMIM gene information: 131290    OMIM disorders: --

    14 diseases for EN1:    About MalaCards
    sudden infant death syndrome    central hypoventilation syndrome    congenital central hypoventilation syndrome    bullous pemphigoid
    cerebellar hypoplasia    joubert syndrome    ectrodactyly    multiple sclerosis
    parkinson's disease    medulloblastoma    colorectal cancer    astrocytoma
    retinitis    neuronitis

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

    2 Novoseek 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. 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)
    2. 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)
    3. Regional assignment of the human homeobox-containing gene EN1 to chromosome 2q13-q21. (PubMed id 8094370)1, 3 Kohler A....Muenke M. (1993)
    4. 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)
    5. Polymorphisms of coding trinucleotide repeats of homeogenes in neurodevelopmental psychiatric disorders. (PubMed id 19018235)1, 9 Laroche F....Robel L. (2008)
    6. Deregulated expression of PAX5 in medulloblastoma. (PubMed id 7777574)1, 9 Kozmik Z....Aguzzi A. (1995)
    7. Developmental transcription factor EN1--a novel biomar ker in human salivary gland adenoid cystic carcinoma. (PubMed id 21800291)1 Bell D....El-Naggar A.K. (2012)
    8. Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)1 Lin Y.Y....Boeke J.D. (2012)
    9. [The regulation of UTROPHIN expression by EN1]. (PubMed id 21482524)1 Wang Q....Jin C.L. (2011)
    10. A method of utrophin up-regulation through RNAi-media ted knockdown of the transcription factor EN1. (PubMed id 21672318)1 Wang Q....Wu Y.Y. (2011)

    External Searches for EN1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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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)
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    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

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