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EN2 Gene

protein-coding   GIFtS: 59
GCID: GC07P155250

Engrailed Homeobox 2

  See EN2-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 21 2     Homeobox Protein Engrailed-22
Homeobox Protein En-22 3     hu-En-22
Engrailed Homolog 22     Hu-En-23
engrailed-22     

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


(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 EN2 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 EN2 Gene:
EN2 (engrailed homeobox 2) is a protein-coding gene. Diseases associated with EN2 include autistic disorder, and autism spectrum disorder. 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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NC_018918.2  NT_007933.16  
Regulatory elements:
   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 Chromatin IP Primers for EN2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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     

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

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

Explore proteomics data for EN2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See EN2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001418.2  
    ENSEMBL proteins: 
     ENSP00000297375  

    EN2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Protein for EN2
    OriGene Protein Over-expression Lysate for EN2
    OriGene Custom MassSpec
    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 Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for EN2

     
    Search eBioscience for Proteins for EN2 

     
    antibodies-online proteins for EN2 (5 products) 

     
    antibodies-online peptides for EN2

    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
    Novus Biologicals EN2 Antibodies
    Abcam antibodies for EN2 (P19622, Q549U3)
    Cloud-Clone Corp. Antibodies for EN2
    ThermoFisher Antibodies for EN2
    antibodies-online antibodies for EN2 (46 products) 

    EN2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for EN2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for EN2
    Cloud-Clone Corp. CLIAs for EN2
    Search eBioscience for ELISAs for EN2 
    antibodies-online kits for EN2 (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 P19622

    ProtoNet protein and cluster: P19622

    2 Blocks protein domains:
    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


    Find genes that share domains with EN2           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 EN2:
    Drosophila segment-polarity gene engrailed homolog 2,homeo domain encoding gene

         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 EN2           About GenesLikeMe


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 10 alleles(MGI details for En2):
     behavior/neurological  cellular  digestive/alimentary  embryogenesis  growth/size/body 
     homeostasis/metabolism  mortality/aging  nervous system  no phenotypic analysis  reproductive system 

    Find genes that share phenotypes with EN2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for EN2: En2tm1Alj En2tm2Alj En2tm3.1Alj En2tm3Alj En2tm6.1Alj

       genOway: Develop your customized and physiologically relevant rodent model for EN2

    miRNA
    Products:
        
    miRTarBase miRNAs that target EN2:
    hsa-mir-16-5p (MIRT032001), hsa-let-7e-5p (MIRT051493), hsa-mir-331-3p (MIRT043555), hsa-mir-744-5p (MIRT037416), hsa-mir-103a-3p (MIRT027200)

    Block miRNA regulation of human, mouse, rat EN2 using miScript Target Protectors
    91 qRT-PCR Assays for microRNAs that regulate EN2 (see first 8):
    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
    hsa-miR-376c hsa-miR-92b hsa-miR-193b hsa-miR-27a hsa-miR-32 hsa-miR-376a hsa-miR-3139 hsa-miR-370
    hsa-miR-548t hsa-miR-363 hsa-miR-516a-3p hsa-miR-616* hsa-miR-16 hsa-miR-4311 hsa-miR-944 hsa-miR-340
    hsa-miR-373* hsa-miR-103a hsa-miR-2115 hsa-miR-548x hsa-miR-33b hsa-miR-548c-3p hsa-miR-140-3p hsa-miR-922
    hsa-miR-367 hsa-miR-497 hsa-miR-888 hsa-miR-664 hsa-miR-382 hsa-miR-338-5p hsa-miR-138 hsa-miR-32*
    hsa-miR-543 hsa-miR-216a hsa-let-7f-2* hsa-miR-3714 hsa-miR-1269 hsa-miR-4291 hsa-miR-4307 hsa-miR-328
    hsa-miR-513a-5p hsa-miR-25 hsa-miR-374c hsa-miR-424 hsa-miR-9 hsa-miR-124 hsa-miR-1276 hsa-miR-155
    hsa-miR-28-5p hsa-miR-506 hsa-miR-15b hsa-miR-181b hsa-miR-1290 hsa-miR-3163 hsa-miR-203 hsa-miR-548am
    hsa-miR-92a hsa-miR-374b hsa-miR-3681* hsa-miR-181a hsa-miR-4282 hsa-miR-513b hsa-miR-655 hsa-miR-3910
    hsa-miR-181c hsa-miR-137 hsa-miR-3942-5p hsa-miR-583 hsa-miR-3121-3p hsa-miR-3662 hsa-miR-195 hsa-miR-1910
    hsa-miR-516b* hsa-miR-545 hsa-miR-181d hsa-miR-1291 hsa-miR-33a hsa-miR-708 hsa-miR-494 hsa-miR-107
    hsa-miR-27b hsa-miR-1976 hsa-miR-4262
    SwitchGear 3'UTR luciferase reporter plasmidEN2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for EN2
    Predesigned siRNA for gene silencing in human, mouse, rat EN2

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

    Clone
    Products:
         
    OriGene clones in human, mouse for EN2 (see all 6)
    OriGene ORF clones in 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
    Browse ESI BIO Cell Lines and PureStem Progenitors for EN2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EN2


    (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
    HME2_HUMAN, P19622: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    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 EN2           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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        Pathway & Disease-focused RT2 Profiler PCR Array including EN2: 
              Homeobox (HOX) Genes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for EN2

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

    Selected Interacting proteins for EN2 (P196223 ENSP000002973754) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FOXA2Q9Y2613I2D: score=2 
    EN1ENSP000002952064STRING: ENSP00000295206
    GLI2ENSP000003545864STRING: ENSP00000354586
    WWTR1ENSP000003538474STRING: ENSP00000353847
    YAP1ENSP000002824414STRING: ENSP00000282441
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0007275multicellular organismal development TAS1672471
    GO:0030182neuron differentiation ----
    GO:0030901midbrain development IEA--
    GO:0030902hindbrain development IEA--

    Find genes that share ontologies with EN2           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 EN2 (HME2)

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

    1 Novoseek inferred 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)



    Find genes that share compounds with EN2           About GenesLikeMe



    (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 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:
         
    Block miRNA regulation of human, mouse, rat EN2 using miScript Target Protectors
    Selected qRT-PCR 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 plasmidEN2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for EN2
    Predesigned siRNA for gene silencing in human, mouse, rat EN2
    Clone
    Products:
         
    OriGene clones in human, mouse for EN2 (see all 6)
    OriGene ORF clones in 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 qSTAR qPCR primer pairs in human, mouse for EN2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EN2
      QuantiTect SYBR Green Assays in human, mouse, rat EN2
      QuantiFast Probe-based Assays in human, mouse, rat EN2

    Additional mRNA sequence: 

    BC104970.1 BC104972.1 

    1 DOTS entry:

    DT.303711 

    10 AceView cDNA sequences:

    BE855431 BX113550 BF001830 F08591 AI094859 NM_001427 CB216046 BG574599 
    F04799 H16179 

    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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    EN2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCATTTTAC
    EN2 Expression
    About this image


    EN2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 31 entries
             Dopaminergic Progenitor Cells Substantia Nigra pars Compacta
             Thalamus
             Substantia Nigra   
     
     Neural Tube (Nervous System)    fully expand to see all 13 entries
             Late Floor Plate Cells Mesencephalic Floor Plate
     
     Neurons
             Dopaminergic Progenitor Cells Substantia Nigra pars Compacta
             Motor neuron-like cells
     
     Neural Ectoderm (Nervous System)    fully expand to see all 7 entries
             Isthmus Cells Neural Plate
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 6 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
    EN2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EN2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.134989
        Pathway & Disease-focused RT2 Profiler PCR Array including EN2: 
              Homeobox (HOX) Genes in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for EN2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EN2
    QuantiTect SYBR Green Assays in human, mouse, rat EN2
    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 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 EN2 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia En21 , 5 engrailed 21, 5 84.47(n)1
    86.73(a)1
      5 (13.94 cM)5
    137991  NM_010134.31  NP_034264.11 
     281656965 
    chicken
    (Gallus gallus)
    Aves LOC1008594351 engrailed homeobox 2 76.28(n)
    77.69(a)
      100859435  NM_001267719.1  NP_001254648.1 
    lizard
    (Anolis carolinensis)
    Reptilia EN26
    engrailed homeobox 2
    67(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
    Protein CEH-16 (ceh-16) mRNA, complete cds
    43(a)
    1 → many
    III(8622658-8626000) WBGene00000439


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EN2 gene
    NOTO2  EN12  EMX22  VAX12  EMX12  VAX22  
    2 SIMAP similar genes for EN2 using alignment to 1 protein entry:     HME2_HUMAN:
    POU6F1    EN1

    Find genes that share paralogs with EN2           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 EN2 (see all 214)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs109498051,2
    C,F,A,H--154482104(+) GCCTCA/GGAGAT 1 -- us2k117Minor allele frequency- G:0.36NS EA NA WA CSA 1391
    rs1176544211,2
    F--154482127(+) CCCCAA/GGTTCA 1 -- us2k11Minor allele frequency- G:0.01NA 120
    rs734941161,2
    C--154482240(+) GGCTGC/TGGCCT 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1873695611,2
    --154482259(+) CCCCCG/TCACTG 1 -- us2k10--------
    rs37578461,2
    C,F,H--154482271(-) CATGAG/ATACCC 1 -- us2k122Minor allele frequency- A:0.46EA NS NA WA CSA 3838
    rs1509311961,2
    --154482304(+) CCAGAA/GCTGCC 1 -- us2k10--------
    rs1402035181,2
    --154482345(+) TCCATA/TAAAAT 1 -- us2k10--------
    rs737345211,2
    C,F--154482350(+) AAAAAT/CGCATT 1 -- us2k12Minor allele frequency- C:0.05WA 120
    rs13455141,2
    C,F,A,H--154482389(+) AACAAC/TGGGTG 1 -- us2k1 tfbs324Minor allele frequency- T:0.19MN NS EA NA WA 2888
    rs1916661471,2
    C--154482499(+) AAGGAA/CAGTCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for EN2 (155250824 - 155257526 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for EN2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv520626CNV Loss19592680
    nsv824413CNV Gain20364138
    nsv831196CNV Gain17160897
    nsv824408CNV Gain20364138

    Human Gene Mutation Database (HGMD): EN2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EN2
    DNA2.0 Custom Variant and Variant Library Synthesis for EN2

    (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: 131310    OMIM disorders: --

    UniProtKB/Swiss-Prot: HME2_HUMAN, P19622
  • Note=Genetic variations in EN2 may be associated with susceptibility to autism

  • 2 diseases for EN2:    
    About MalaCards
    autistic disorder    autism spectrum disorder

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

    Find genes that share disorders with EN2           About GenesLikeMe

    3 Novoseek inferred 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

    (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 10 sources (see all 85):
    (articles sorted by number of sources associating them with EN2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Support for the homeobox transcription factor gene ENGRAILED 2 as an autism spectrum disorder susceptibility locus. (PubMed id 16252243)1, 2, 4 Benayed R.... Millonig J.H. (Am. J. Hum. Genet. 2005)
    2. Autism-associated haplotype affects the regulation of the homeobox gene, ENGRAILED 2. (PubMed id 19615670)1, 4, 9 Benayed R....Millonig J.H. (Biol. Psychiatry 2009)
    3. Association of the homeobox transcription factor gene ENGRAILED 2 with autistic disorder in Chinese children. (PubMed id 18424904)1, 4, 9 Yang P....Juo S.H. (Neuropsychobiology 2008)
    4. Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder. (PubMed id 15024396)1, 4, 9 Gharani N....Millonig J.H. (Mol. Psychiatry 2004)
    5. 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)
    6. Intronic single nucleotide polymorphisms of engrailed homeobox 2 modulate the disease vulnerability of autism in a han chinese population. (PubMed id 20523082)1, 4 Yang P....Lung F.W. (Neuropsychobiology 2010)
    7. Family-based studies indicate association of Engrailed 2 gene with autism in an Indian population. (PubMed id 20050924)1, 4 Sen B....Usha R. (Genes Brain Behav. 2010)
    8. Haplotype analysis of the engrailed-2 gene in young-onset Parkinson's disease. (PubMed id 19270442)1, 4 Rissling I....MAPller J.C. (Neurodegener Dis 2009)
    9. Heterogeneous association between engrailed-2 and autism in the CPEA network. (PubMed id 17948868)1, 4 Brune C.W....Coon H. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008)
    10. 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. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (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

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for EN2 Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for EN2 gene:
    Search GeneIP for patents involving EN2

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



    (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
    Advanced Cell Diagnostics, Animal models from genOway)
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