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Aliases for EN2 Gene

Aliases for EN2 Gene

  • Engrailed Homeobox 2 2 3 5
  • Homeobox Protein En-2 3 4
  • Hu-En-2 3 4
  • Homeobox Protein Engrailed-2 3
  • Engrailed Homolog 2 3
  • Engrailed-2 3

External Ids for EN2 Gene

Previous GeneCards Identifiers for EN2 Gene

  • GC07P153479
  • GC07P154552
  • GC07P154666
  • GC07P154748
  • GC07P154942
  • GC07P155250
  • GC07P148981

Summaries for EN2 Gene

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 Holoprosencephaly 3 and Autism. Among its related pathways are Dopaminergic Neurogenesis. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is EN1.

Gene Wiki entry for EN2 Gene

Additional gene information for EN2 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EN2 Gene

Genomics for EN2 Gene

GeneHancer (GH) Regulatory Elements for EN2 Gene

Promoters and enhancers for EN2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I155457 Enhancer 0.8 ENCODE 550.8 -1.0 -988 0.2 ATF1 KLF17 ZNF76 FEZF1 ZNF335 GLIS2 EGR1 EGR2 USF2 ZEB2 EN2 ENSG00000236544
GH07I155458 Enhancer 0.8 ENCODE 550.8 -0.7 -688 0.2 CLOCK ATF1 KLF17 SIN3A ZNF76 FEZF1 ZNF335 GLIS2 EGR2 USF2 EN2 ENSG00000236544
GH07I155752 Enhancer 1.8 VISTA UCNEbase Ensembl ENCODE dbSUPER 9.6 +296.8 296758 4.2 PKNOX1 EBF1 ELF1 DPF2 BATF ATF2 IRF4 ZNF507 IKZF1 PRDM10 EN2 ENSG00000236544 RBM33 PIR49030 LOC100506302
GH07I155593 Enhancer 1.2 FANTOM5 Ensembl ENCODE 10.2 +136.4 136368 2.4 CTCF ZFP64 MAX CEBPG YY1 POLR2A SCRT2 THAP11 ZBTB20 GATAD2A EN2 ENSG00000236544 RBM33 CNPY1 PIR45075 ENSG00000283128
GH07I155740 Enhancer 1.1 Ensembl ENCODE dbSUPER 9.9 +283.7 283731 3.2 BACH1 EBF1 BATF IRF4 RELA NFATC1 NFE2 ETV6 IKZF2 BCLAF1 EN2 ENSG00000236544 BLACE RBM33 PAXIP1-AS2 PIR49030 LOC100506302
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EN2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EN2 gene promoter:

Genomic Locations for EN2 Gene

Genomic Locations for EN2 Gene
6,703 bases
Plus strand

Genomic View for EN2 Gene

Genes around EN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EN2 Gene

Proteins for EN2 Gene

  • Protein details for EN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Homeobox protein engrailed-2
    Protein Accession:
    Secondary Accessions:
    • A4D252
    • Q549U3
    • Q9UD58

    Protein attributes for EN2 Gene

    333 amino acids
    Molecular mass:
    34211 Da
    Quaternary structure:
    No Data Available

neXtProt entry for EN2 Gene

Post-translational modifications for EN2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EN2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EN2 Gene

Domains & Families for EN2 Gene

Gene Families for EN2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for EN2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the engrailed homeobox family.
  • Belongs to the engrailed homeobox family.
genes like me logo Genes that share domains with EN2: view

Function for EN2 Gene

Molecular function for EN2 Gene

GENATLAS Biochemistry:
Drosophila segment-polarity gene engrailed homolog 2,homeo domain encoding gene

Phenotypes From GWAS Catalog for EN2 Gene

Gene Ontology (GO) - Molecular Function for EN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with EN2: view
genes like me logo Genes that share phenotypes with EN2: view

Animal Models for EN2 Gene

MGI Knock Outs for EN2:

miRNA for EN2 Gene

miRTarBase miRNAs that target EN2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EN2 Gene

Localization for EN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EN2 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EN2 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (3)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IDA --
GO:0005730 nucleolus IDA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with EN2: view

Pathways & Interactions for EN2 Gene

SuperPathway Contained pathways
1 Dopaminergic Neurogenesis
genes like me logo Genes that share pathways with EN2: view

Pathways by source for EN2 Gene

1 BioSystems pathway for EN2 Gene

Gene Ontology (GO) - Biological Process for EN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development TAS 1672471
GO:0030182 neuron differentiation IEA --
GO:0030901 midbrain development IEA --
GO:0030902 hindbrain development IEA --
genes like me logo Genes that share ontologies with EN2: view

No data available for SIGNOR curated interactions for EN2 Gene

Drugs & Compounds for EN2 Gene

(2) Drugs for EN2 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
N-Cyclohexyltaurine Experimental Pharma Target 0
genes like me logo Genes that share compounds with EN2: view

Transcripts for EN2 Gene

mRNA/cDNA for EN2 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(10) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EN2 Gene

Engrailed homeobox 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EN2 Gene

No ASD Table

Relevant External Links for EN2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EN2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x23.4) and Brain - Cerebellum (x22.0).

Protein differential expression in normal tissues from HIPED for EN2 Gene

This gene is overexpressed in Pancreatic juice (54.4) and Adipocyte (14.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for EN2 Gene

Protein tissue co-expression partners for EN2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EN2 Gene:


SOURCE GeneReport for Unigene cluster for EN2 Gene:


Evidence on tissue expression from TISSUES for EN2 Gene

  • Nervous system(4.5)
  • Bone marrow(4.1)
genes like me logo Genes that share expression patterns with EN2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EN2 Gene

Orthologs for EN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for EN2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia EN2 33 34
  • 98.7 (n)
(Bos Taurus)
Mammalia EN2 34
  • 87 (a)
(Rattus norvegicus)
Mammalia En2 33
  • 84.73 (n)
(Mus musculus)
Mammalia En2 33 16 34
  • 84.47 (n)
(Ornithorhynchus anatinus)
Mammalia EN2 34
  • 84 (a)
(Canis familiaris)
Mammalia EN2 34
  • 79 (a)
(Monodelphis domestica)
Mammalia EN2 34
  • 76 (a)
(Gallus gallus)
Aves LOC100859435 33
  • 76.28 (n)
EN2 34
  • 76 (a)
(Anolis carolinensis)
Reptilia EN2 34
  • 67 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498251 33
  • 66.52 (n)
(Danio rerio)
Actinopterygii eng2a 33 34
  • 65 (a)
eng2b 33 34
  • 62.18 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6099 33
fruit fly
(Drosophila melanogaster)
Insecta en 35 34
  • 74 (a)
inv 35 34
  • 62 (a)
CG34031 34
  • 22 (a)
ro 34
  • 19 (a)
lms 34
  • 17 (a)
(Caenorhabditis elegans)
Secernentea ceh-16 34
  • 43 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4370 34
  • 29 (a)
Species where no ortholog for EN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EN2 Gene

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

Paralogs for EN2 Gene

Paralogs for EN2 Gene

(2) SIMAP similar genes for EN2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with EN2: view

Variants for EN2 Gene

Sequence variations from dbSNP and Humsavar for EN2 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1861972 uncertain-significance, Autism 10 155,461,298(+) G/A intron_variant
rs1861973 uncertain-significance, Autism 10 155,461,450(+) T/C intron_variant
rs1000408413 -- 155,464,196(+) A/C 3_prime_UTR_variant
rs1000431360 -- 155,464,909(+) A/C downstream_transcript_variant
rs1000865535 -- 155,464,579(+) A/G 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for EN2 Gene

Variant ID Type Subtype PubMed ID
nsv520626 CNV loss 19592680
nsv824408 CNV gain 20364138
nsv824413 CNV gain 20364138
nsv831196 CNV gain 17160897
nsv951660 CNV deletion 24416366

Variation tolerance for EN2 Gene

Gene Damage Index Score: 7.14; 80.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EN2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EN2 Gene

Disorders for EN2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for EN2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
holoprosencephaly 3
  • hpe3
  • autistic disorder
autism spectrum disorder
  • asd
pervasive developmental disorder
  • pervasive development disorder
- elite association - COSMIC cancer census association via MalaCards
Search EN2 in MalaCards View complete list of genes associated with diseases


  • Note=Genetic variations in EN2 may be associated with susceptibility to autism.

Additional Disease Information for EN2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with EN2: view

No data available for Genatlas for EN2 Gene

Publications for EN2 Gene

  1. Autism-associated haplotype affects the regulation of the homeobox gene, ENGRAILED 2. (PMID: 19615670) Benayed R … Millonig JH (Biological psychiatry 2009) 3 22 44 58
  2. Association of the homeobox transcription factor gene ENGRAILED 2 with autistic disorder in Chinese children. (PMID: 18424904) Yang P … Juo SH (Neuropsychobiology 2008) 3 22 44 58
  3. Support for the homeobox transcription factor gene ENGRAILED 2 as an autism spectrum disorder susceptibility locus. (PMID: 16252243) Benayed R … Millonig JH (American journal of human genetics 2005) 3 4 44 58
  4. Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder. (PMID: 15024396) Gharani N … Millonig JH (Molecular psychiatry 2004) 3 22 44 58
  5. Cloning and sequence comparison of the mouse, human, and chicken engrailed genes reveal potential functional domains and regulatory regions. (PMID: 1363401) Logan C … Joyner AL (Developmental genetics 1992) 3 4 22 58

Products for EN2 Gene

Sources for EN2 Gene

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