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FLASH GENE
Symbol EN2 contributors: mct - updated : 05-02-2015
HGNC name engrailed homeobox 2
HGNC id 3343
Corresponding disease
AUTS10 autism spectrum disorder, 10
Location 7q36.3      Physical location : 155.250.823 - 155.257.520
Synonym name
  • engrailed homolog 2
  • engrailed-2
  • Synonym symbol(s) AUTS1, AUTS10
    DNA
    TYPE functioning gene
    STRUCTURE 6.70 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Physical map
    LOC392153 7 similar to TSH receptor suppressor element-binding protein-1; TSEP-1 LOC389600 7 LOC389600 MLL3 7q36 myeloid/lymphoid or mixed-lineage leukemia 3 LOC220832 7q36.2 similar to Fatty acid-binding protein, epidermal (E-FABP) (Psoriasis-associated fatty acid-binding protein homolog) (PA-FABP) LOC155100 7q36.2 similar to T-complex protein 1 XRCC2 7q36.1 X-ray repair complementing defective repair in Chinese hamster cells 2 LOC392154 7 similar to ATP synthase B chain, mitochondrial precursor ARP3BETA 7q346 similar to ATP synthase B chain, mitochondrial precursor LOC392155 7 similar to SMT3 suppressor of mif two 3 homolog 2 LOC346547 7q36.2 similar to envelope protein LOC392156 7 similar to ppg3 DPP6 7q dipeptidylpeptidase 6 PAXIP1L 7q36.3 PAX transcription activation domain interacting protein 1 like HTR5A 7q36.1 5-hydroxytryptamine (serotonin) receptor 5A LOC389601 7 LOC389601 INSIG1 7q36 insulin induced gene 1 EN2 7q36.2 engrailed homolog 2 LOC392157 7 similar to RIKEN cDNA 9630008K15 gene MGC20460 7q36.3 hypothetical protein MGC20460 SHH 7q36 sonic hedgehog homolog (Drosophila) LOC389602 7 hypothetical gene supported by AK124321 LOC346305 7q36.3 similar to hypothetical protein Tb927.2.4050 LOC285890 7q36.3 hypothetical LOC285890 C7orf13 7q36 chromosome 7 open reading frame 13 RNF32 7q36 ring finger protein 32 C7orf2 7q36 chromosome 7 open reading frame 2 C7orf3 7q36 chromosome 7 open reading frame 3 HLXB9 7q36 homeo box HB9 LOC392158 7 similar to S-adenosylmethionine decarboxylase KIAA0010 7q36.3 ubiquitin-protein isopeptide ligase (E3) DNAJB6 7q36.3 DnaJ (Hsp40) homolog, subfamily B, member 6 LOC392159 7 similar to polycystic kidney disease 1-like 3 LOC389603 7 hypothetical gene supported by AK098637 PTPRN2 7q36 protein tyrosine phosphatase, receptor type, N polypeptide 2 LOC285872 7q36.3 hypothetical gene supported by AL833137 FLJ20311 7q36.3 hypothetical protein FLJ20311 KIAA1228 7q36.3 hypothetical protein FLJ20311
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 3405 - 333 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainhindbraincerebellum   Homo sapiens
     braindiencephalonamygdala highly Homo sapiens
     brainforebraincerebral cortex   Homo sapiens
     brainlimbic systemhippocampus highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Mus musculusFetal
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an eukaryotic translation initiation factor 4E (eIF4E) binding domain
  • five EN homology regions (EH)
  • a Groucho binding domain
  • two PBX binding domains
  • an helix-turn-helix DNA binding domain
  • a cell penetration domain
  • a C-terminal transcriptional repression domain
  • HOMOLOGY
    interspecies homolog to murine En2 (98.78 pc)
    homolog to drosophila en (74.00 pc)
    intraspecies paralog to EN1 gene
    Homologene
    FAMILY engrailed homebox family
    CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,nucleus
    text expressed in a caudal-to-rostral gradient in the developing midbrain
    basic FUNCTION
  • playing an important role during development in segmentation, where it is required for the formation of posterior compartments
  • involved in the normal cerebellar development
  • may also have a role in cell-cell communication
  • may participate directly in topographic map formation in the vertebrate visual system
  • involved in transcriptional and translational modulation
  • seems to be capable of acting as a morphogen in its own right
  • its expression is required for the maintenance of the transformed phenotype of a breast tumor cell line
  • transcriptional repressor, but, its secreted form can also promote local protein synthesis in the growth cones by regulating EIF4E-dependent translation initiation
  • regulates genes related to vesicle formation and transport in cerebellar Purkinje cells
  • EN1, EN2 represent a new class of genes that are fundamental to patterning cerebellum foliation throughout the mediolateral axis and that act late in development
  • EN1, EN2 are required for patterning the morphological and molecular domains along both axes, as well as for the establishment of the normal afferent topography required to generate a fully functional cerebellum
  • EN1 and EN2 have overlapping functions in the cells derived from each progenitor zone in regulating formation of additional fissures and for extensive cerebellar growth
  • EN1 but not EN2 has a direct and specific repulsive effect on motor axons of the lateral aspect of the lateral motor column (LMC) but not on medial LMC projections
  • plays an important role in the regionalization of the neural tube
  • CELLULAR PROCESS nucleotide, transcription, regulation
    protein, translation regulation
    PHYSIOLOGICAL PROCESS development , nervous system
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
  • binding
  • RNA
    small molecule
    protein
  • binding
  • cell & other
    REGULATION
    induced by FGF8
    Other regulated by NURF complex
    ASSOCIATED DISORDERS
    corresponding disease(s) AUTS10
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    ectopically expressed in a subset of breast cancer
    constitutional     --over  
    postnatal persistence of EN2 overexpression may contribute to autism cerebellar abnormalities
    constitutional       loss of function
    significant effect of EN2 gene alterations in neurodevelopmental abnormalities associated to encephalic structural anomalies
    Susceptibility
  • to autism spectrum disorder (ASD)
  • Variant & Polymorphism SNP
  • two intronic SNPs, rs1861972 and rs1861973, in the homeodomain significantly associated with autism
  • significantly associated with ASD
    Candidate gene
    Marker
  • novel prostate cancer biomarker
  • Therapy target
    ANIMAL & CELL MODELS
  • En2 knock-out and an En2 over-expression transgenic mice result in the improper mapping of cerebellar mossy fiber