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

EN2 Gene

protein-coding   GIFtS: 59
GCID: GC07P155250

engrailed homeobox 2
 Explore 22 diseases affiliated with
EN2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for EN2    

Aliases
for EN2 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 21 2     Homeobox Protein Engrailed-22
Homeobox Protein En-22 3     Hu-En-23
Engrailed Homolog 22     Hu-En-23
Engrailed-21     AUTS105

External Ids:    HGNC: 33431   Entrez Gene: 20202   Ensembl: ENSG000001647787   OMIM: 1313105   UniProtKB: P196223   

Export aliases for EN2 gene to outside databases

Previous GC identifers: GC07P153479 GC07P154552 GC07P154666 GC07P154748 GC07P154942 GC07P148981


Summaries
for EN2 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 EN2:
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 EN2


Genomic Views
for EN2 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_000007.13  NC_018918.1  NT_007741.14  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EN2 gene promoter:
         SRF   STAT5B   AP-2alpha isoform 3   SREBP-1c   AP-2alpha isoform 2   SREBP-1b   SREBP-1a   AP-2alpha isoform 4   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): EN2 promoter sequence
   Search SABiosciences Chromatin IP Primers for EN2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EN2


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

Entrez Gene cytogenetic band: 7q36   Ensembl cytogenetic band:  7q36.3   HGNC cytogenetic band: 7q36.2

EN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EN2 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P155250:  view genomic region     (about GC identifiers)

Start:
 155,250,824 bp from pter      End:
 155,257,526 bp from pter
Size:
 6,703 bases      Orientation:
 plus strand

1 alternative location:
Chr7+,CRA_TCAG 154,484,063-154,490,767     

Proteins
for EN2 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: HME2_HUMAN, P19622 (See protein sequence)
Recommended Name: Homeobox protein engrailed-2  
Size: 333 amino acids; 34211 Da
Subcellular location: Nucleus
Secondary accessions: A4D252 Q549U3 Q9UD58

Explore the universe of human proteins at neXtProt for EN2: NX_P19622

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P19622

    • EN2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001418.2  
    ENSEMBL proteins: 
     ENSP00000297375  

    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: EN2
    OriGene Custom Protein Services for EN2 
    GenScript Custom Purified and Recombinant Proteins Services for EN2
    Novus Biologicals EN2 Protein
    Novus Biologicals EN2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for EN2

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

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


    EN2 for ontologies           About GeneDecksing



    EN2 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for EN2 (Engrailed-2)
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    OriGene Custom Antibody Services for EN2 
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    Novus Biologicals EN2 Antibodies
    Search for Antibodies for EN2 at Abcam  
    Uscn Antibodies for EN2
    ThermoFisher Antibodies for EN2

    Assay Products for EN2: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for EN2
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for EN2

    Protein Domains /
    Families
    for EN2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    EN2 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 P19622

    ProtoNet protein and cluster: P19622

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


    UniProtKB/Swiss-Prot: HME2_HUMAN, P19622
    Similarity: Belongs to the engrailed homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    Function
    for EN2 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 EN2:
    Drosophila segment-polarity gene engrailed homolog 2,homeo domain encoding gene

    miRNA
    Products:            		 OriGene 3'-UTR Clone: EN2
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EN2
    8/91 QIAGEN miScript miRNA Assays for microRNAs that regulate EN2 (see all 91):
    hsa-miR-579 hsa-miR-3607-3p hsa-miR-193a-3p hsa-miR-376b hsa-miR-15a hsa-miR-128 hsa-miR-374a hsa-miR-3613-3p
    SwitchGear 3'UTR luciferase reporter plasmid: EN2 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 EN2 (see all 7)
    OriGene shRNA RFP: EN2
    OriGene siRNA: EN2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EN2

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for EN2

    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 EN2 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EN2
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: EN2 (NM_001427)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EN2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EN2 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for EN2
    Search LifeMap BioReagents cell lines for EN2

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EN2

    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--


    EN2 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for EN2: En2tm1Alj En2tm2Alj En2tm3.1Alj En2tm3Alj En2tm6.1Alj
         10 MGI mutant phenotypes (inferred from 10 alleles) (MGI details for En2):
     behavior/neurological  cellular  digestive/alimentary  embryogenesis  growth/size 
     homeostasis/metabolism  mortality/aging  nervous system  no phenotypic analysis  reproductive system 

    EN2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for EN2 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:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for EN2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for EN2 (P196223 ENSP000002973754) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FOXA2Q9Y2613, ENSP000003159554I2D: score=2 STRING: ENSP00000315955
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007275multicellular organismal development TAS1672471
    GO:0030182neuron differentiation ----
    GO:0030901midbrain development IEA--
    GO:0030902hindbrain development IEA--
    GO:0045944positive regulation of transcription from RNA polymerase II promoter IEA--


    EN2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for EN2 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

    EN2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for EN2

    1 DrugBank Compound for EN2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    N-Cyclohexyltaurine-- --target--17139284 17016423 10592235

    1 Novoseek chemical compound relationship for EN2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 0 3 7620626 (1), 9129179 (1)

    Search CenterWatch for drugs/clinical trials and news about EN2 / HME2 

    Transcripts
    for EN2 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 EN2 gene: 
    NM_001427.3  

    Unigene Cluster for EN2:

    Engrailed homeobox 2
    Hs.134989  [show with all ESTs]
    Unigene Representative Sequence: NM_001427
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000297375(uc003wmb.3)

    miRNA
    Products:             		 OriGene 3'-UTR Clone: EN2
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EN2
    8/91 QIAGEN miScript miRNA Assays for microRNAs that regulate EN2 (see all 91):
    hsa-miR-579 hsa-miR-3607-3p hsa-miR-193a-3p hsa-miR-376b hsa-miR-15a hsa-miR-128 hsa-miR-374a hsa-miR-3613-3p
    SwitchGear 3'UTR luciferase reporter plasmid: EN2 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 EN2 (see all 7)
    OriGene shRNA RFP: EN2
    OriGene siRNA: EN2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EN2
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EN2 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EN2
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: EN2 (NM_001427)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EN2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EN2 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for EN2
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat EN2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EN2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EN2

    Additional cDNA sequence: 

    BC104970.1 BC104972.1 

    1 DOTS entry:

    DT.303711 

    10 AceView cDNA sequences:

    BE855431 BX113550 CB216046 NM_001427 BF001830 AI094859 F08591 BG574599 
    F04799 H16179 

    GeneLoc Exon Structure


    Expression
    for EN2 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

    EN2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGCATTTTAC

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

    EN2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/14 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 14) 
    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: 1 LifeMap Cell 
    NameCategory
    Motor neuron-like cells (Generation of motor ...)Motor Neurons, Spinal Cord

    See EN2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EN2

    SOURCE GeneReport for Unigene cluster: Hs.134989
        SABiosciences Expression via Pathway-Focused PCR Array including EN2: 
              Homeobox (HOX) Genes in human mouse rat

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for EN2
    Browse OriGene validated miRNA SYBR primer pairs
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EN2
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EN2

    Orthologs
    for EN2 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 EN2 gene from 6/20 species (see all 20)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves EN21 engrailed homeobox 2 76(n)
    76.95(a)    		   100859435  XM_003640676.1  XP_003640724.1 
    lizard
    (Anolis carolinensis)    		 Reptilia EN26
    		 --
    		 59(a)
    		 1 ↔ 1
    		 6(5706524-5712831)
    African clawed frog
    (Xenopus laevis)    		 Amphibia X62973.12   -- 80.24(n)    X62973.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii eng2a2 engrailed 2a 81.26(n)   30243  NM_131044.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta en3 neuroblast determination specific RNA
    polymerase more    		 74(a)
    (best of 2)    		     --
    worm
    (Caenorhabditis elegans)    		 Secernentea ceh-166
    		 Homeobox protein engrailed-like ceh-16
    		 41(a)
    		 1 → many
    		 III(8622578-8625920)


    ENSEMBL Gene Tree for EN2 (if available)
    TreeFam Gene Tree for EN2 (if available) 

    Paralogs
    for EN2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EN2 gene
    EN12  VAX12  VAX22  
    2 SIMAP similar genes for EN2 using alignment to 1 protein entry:     HME2_HUMAN:
    POU6F1    EN1

    EN2 for paralogs           About GeneDecksing



    Genomic Variants
    for EN2 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

    10/170 NCBI SNPs in EN2 are shown (see all 170)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs734941161,2
    		C,--154482240(+) GGCTGC/TGGCCT 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs737345211,2
    		C,--154482350(+) AAAAAT/CGCATT 1 -- us2k12Minor allele frequency- C:0.05WA 120
    rs756084961,2
    		F,--154482547(+) GGGCTC/TCCACC 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs559512481,2
    		C,F,--154482800(+) ATGGAG/ACCGCA 1 -- us2k11Minor allele frequency- A:0.03NA 120
    rs557382421,2
    		C,--154482829(+) TTTCGA/GATCGC 1 -- us2k10--------
    rs563582571,2
    		C,F,--154482864(+) GTCCCC/TGGGTG 1 -- us2k11Minor allele frequency- T:0.06NA 120
    rs37356521,2
    		C,F,--154485150(-) GCCGGC/GGTCAG 1 -- int17Minor allele frequency- G:0.43NA WA EA 366
    rs737345231,2
    		C,--154485316(+) CTCTTC/TCCAGC 1 -- int11Minor allele frequency- T:0.50WA 2
    rs64600131,2
    		C,F,A,H,--154485433(+) CTCAGG/TCCAGG 1 -- int110Minor allele frequency- T:0.13NS EA NA CSA WA 663
    rs734941211,2
    		C,--154485673(+) GCCCCC/TTTCCT 1 -- int12Minor allele frequency- T:0.03WA 120

    HapMap Linkage Disequilibrium report for EN2 (155250824 - 155257526 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for EN2
         1 CNV: 52169
    Human Gene Mutation Database (HGMD): EN2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing EN2
    DNA2.0 Custom Variant and Variant Library Synthesis for EN2

    Disorders / Diseases
    for EN2 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
    EN2 for disorders           About GeneDecksing

    OMIM gene information: 131310   
    OMIM disorders: 611016  
    UniProtKB/Swiss-Prot: HME2_HUMAN, P19622
  • Note=Genetic variations in EN2 may be associated with susceptibility to autism

    • 20/22 diseases for EN2 (see all 22):    About MalaCards
    alcohol-related birth defect    alcohol-related neurodevelopmental disorder    sudden infant death syndrome    partial fetal alcohol syndrome
    autism susceptibility 10    autism spectrum disorder    birth defects    fetal alcohol syndrome
    cerebellar hypoplasia    autistic disorder    joubert syndrome    alcoholism
    polydactyly    parkinson's disease    medulloblastoma    seizures
    prostate cancer    breast cancer    retinitis    prostatitis

    1 disease from the University of Copenhagen DISEASES database for EN2:
    Autistic disorder

    3 Novoseek disease relationships for EN2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypoplasia 42.5 3 15024396 (1), 15676030 (1)
    congenital malformation 26.1 1 15676030 (1)
    tumors 4.64 1 7777574 (1)

    Genetic Association Database (GAD): EN2
    Human Genome Epidemiology (HuGE) Navigator: EN2 (10 documents)

    Export disorders for EN2 gene to outside databases

    Publications
    for EN2 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)
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    PubMed articles for EN2 gene, integrated from 9 sources (see all 83):
    (articles sorted by number of sources associating them with EN2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder. (PubMed id 15024396)1, 4, 9 Gharani N....Millonig J.H. (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. Support for the homeobox transcription factor gene ENGRAILED 2 as an autism spectrum disorder susceptibility locus. (PubMed id 16252243)1, 2 Benayed R.... Millonig J.H. (2005)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. No association between the EN2 gene and autistic disorder. (PubMed id 12525552)1, 4 Zhong H....Huq A.H. (2003)
    6. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    7. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    8. Isolation and chromosomal localization of the human En-2 gene. (PubMed id 2565873)1, 2 Poole S.J.... Lau Y.-F.C. (1989)
    9. Association of the ENGRAILED 2 (EN2) gene with autism in Chinese Han population. (PubMed id 17948901)1, 9 Wang L....Zhang D. (2008)
    10. Autism-associated haplotype affects the regulation of the homeobox gene, ENGRAILED 2. (PubMed id 19615670)1, 9 Benayed R....Millonig J.H. (2009)

    External Searches for EN2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing EN2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2020 HGNC: 3343 AceView: EN2 Ensembl:ENSG00000164778 euGenes: HUgn2020
    ECgene: EN2 H-InvDB: EN2

    Other Databases showing EN2 gene

    (According to HUGE)
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    Specialized Databases showing EN2 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 EN2 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for EN2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    		Patent Information for EN2 gene:
    Search GeneIP for patents involving EN2

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