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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 Autistic Disorder and Holoprosencephaly-3. Among its related pathways are Dopaminergic Neurogenesis. 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

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

Regulatory Elements for EN2 Gene

Enhancers for EN2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G155752 2.8 VISTA Ensembl ENCODE dbSUPER 9.6 +296.8 296759 4.2 CTCF PKNOX1 MAX RAD21 YY1 ZNF507 ZNF121 ARID3A EED HNF4G EN2 ENSG00000236544 RBM33 PIR49030 LOC100506302
GH07G155593 1.4 FANTOM5 Ensembl ENCODE 10.2 +136.4 136369 2.4 CTCF FOXA2 JUN ZFP64 MAX CEBPG ZIC2 YY1 GATA3 POLR2A ENSG00000236544 EN2 RBM33 CNPY1 PIR45075
GH07G155740 1.4 Ensembl ENCODE dbSUPER 9.9 +283.7 283732 3.2 HDAC1 ATF1 RB1 ZSCAN4 ZNF2 RAD21 ZNF335 GLIS2 ZNF207 RELB PAXIP1-AS2 ENSG00000273183 PAXIP1-AS1 EN2 ENSG00000236544 BLACE RBM33 PIR49030 LOC100506302
GH07G155412 1.1 ENCODE 11.7 -45.3 -45289 0.2 HDGF PKNOX1 CREB3L1 ARNT SIN3A FEZF1 ZNF2 YY1 ZNF766 CBX5 ENSG00000218672 ENSG00000236544 EN2 BLACE ENSG00000227365 LOC105375594 ENSG00000260426
GH07G155490 1 Ensembl ENCODE 11.5 +33.1 33053 2.0 RNF2 SUZ12 MTA2 BHLHE40 CBX2 BMI1 TBX21 POLR2A EED MYB EN2 ENSG00000236544 ENSG00000227365
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EN2 on UCSC Golden Path with GeneCards custom track

Genomic Location for EN2 Gene

Chromosome:
7
Start:
155,458,129 bp from pter
End:
155,464,831 bp from pter
Size:
6,703 bases
Orientation:
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:
    P19622-HME2_HUMAN
    Recommended name:
    Homeobox protein engrailed-2
    Protein Accession:
    P19622
    Secondary Accessions:
    • A4D252
    • Q549U3
    • Q9UD58

    Protein attributes for EN2 Gene

    Size:
    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

Suggested Antigen Peptide Sequences for EN2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P19622

UniProtKB/Swiss-Prot:

HME2_HUMAN :
  • Belongs to the engrailed homeobox family.
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

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:

Animal Model Products

miRNA for EN2 Gene

miRTarBase miRNAs that target EN2

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

COMPARTMENTS
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

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:

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

No ASD Table

Relevant External Links for EN2 Gene

GeneLoc Exon Structure for
EN2
ECgene alternative splicing isoforms for
EN2

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:

EN2

SOURCE GeneReport for Unigene cluster for EN2 Gene:

Hs.134989

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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia EN2 34 35
  • 98.7 (n)
cow
(Bos Taurus)
Mammalia EN2 35
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia En2 34
  • 84.73 (n)
mouse
(Mus musculus)
Mammalia En2 34 16 35
  • 84.47 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EN2 35
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EN2 35
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EN2 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100859435 34
  • 76.28 (n)
EN2 35
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EN2 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498251 34
  • 66.52 (n)
zebrafish
(Danio rerio)
Actinopterygii eng2a 34 35
  • 65 (a)
eng2b 34 35
  • 62.18 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6099 34
fruit fly
(Drosophila melanogaster)
Insecta en 36 35
  • 74 (a)
inv 36 35
  • 62 (a)
CG34031 35
  • 22 (a)
ManyToMany
ro 35
  • 19 (a)
ManyToMany
lms 35
  • 17 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-16 35
  • 43 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4370 35
  • 29 (a)
OneToMany
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

ENSEMBL:
Gene Tree for EN2 (if available)
TreeFam:
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 Sequence Context AA Info Type
rs1861972 Uncertain significance 155,461,298(+) TGCCA(A/G)TGGCC intron-variant
rs1861973 Uncertain significance 155,461,450(+) CCCTG(C/T)CCAAA intron-variant
rs1000408413 -- 155,464,196(+) GGTAC(A/C)GTGTA utr-variant-3-prime
rs1000431360 -- 155,464,909(+) CCAGT(A/C)CTCAG downstream-variant-500B
rs1000865535 -- 155,464,579(+) ACTCA(A/G)TGAAA utr-variant-3-prime

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)

Relevant External Links for EN2 Gene

Human Gene Mutation Database (HGMD)
EN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EN2

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: DISEASES and GeneCards

Disorder Aliases PubMed IDs
autistic disorder
  • autism
holoprosencephaly-3
  • holoprosencephaly 3
autism spectrum disorder
  • pervasive development disorder
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

UniProtKB/Swiss-Prot

HME2_HUMAN
  • Note=Genetic variations in EN2 may be associated with susceptibility to autism.

Relevant External Links for EN2

Genetic Association Database (GAD)
EN2
Human Genome Epidemiology (HuGE) Navigator
EN2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EN2
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 J.H. (Biol. Psychiatry 2009) 3 22 46 64
  2. Association of the homeobox transcription factor gene ENGRAILED 2 with autistic disorder in Chinese children. (PMID: 18424904) Yang P. … Juo S.H. (Neuropsychobiology 2008) 3 22 46 64
  3. Support for the homeobox transcription factor gene ENGRAILED 2 as an autism spectrum disorder susceptibility locus. (PMID: 16252243) Benayed R. … Millonig J.H. (Am. J. Hum. Genet. 2005) 3 4 46 64
  4. Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder. (PMID: 15024396) Gharani N. … Millonig J.H. (Mol. Psychiatry 2004) 3 22 46 64
  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 A.L. (Dev. Genet. 1992) 3 4 22 64

Products for EN2 Gene

Sources for EN2 Gene

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