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    EN2 engrailed homeobox 2 [ Homo sapiens (human) ]

    Gene ID: 2020, updated on 9-Jul-2017
    Official Symbol
    EN2provided by HGNC
    Official Full Name
    engrailed homeobox 2provided by HGNC
    Primary source
    HGNC:HGNC:3343
    See related
    Ensembl:ENSG00000164778 MIM:131310; Vega:OTTHUMG00000151354
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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]
    Orthologs
    Location:
    7q36.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (155458129..155464831)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (155250824..155257526)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375593 Neighboring gene B-cell acute lymphoblastic leukemia expressed Neighboring gene uncharacterized LOC105375594 Neighboring gene uncharacterized LOC107986863 Neighboring gene canopy FGF signaling regulator 1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated (2012-08-26)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated (2012-08-26)

    ClinGen Genome Curation Page
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    embryonic brain development IEA
    Inferred from Electronic Annotation
    more info
     
    hindbrain development IEA
    Inferred from Electronic Annotation
    more info
     
    midbrain development IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organism development TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    neuron development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nucleolus IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    homeobox protein engrailed-2
    Names
    engrailed homolog 2
    engrailed-2
    homeobox protein en-2
    hu-En-2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007124.1 RefSeqGene

      Range
      6410..13112
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001427.3NP_001418.2  homeobox protein engrailed-2

      See identical proteins and their annotated locations for NP_001418.2

      Status: REVIEWED

      Source sequence(s)
      AC008060, H16179
      Consensus CDS
      CCDS5940.1
      UniProtKB/Swiss-Prot
      P19622
      Related
      ENSP00000297375.4, OTTHUMP00000199895, ENST00000297375.4, OTTHUMT00000322337
      Conserved Domains (2) summary
      pfam00046
      Location:247300
      Homeobox; Homeobox domain
      pfam10525
      Location:302331
      Engrail_1_C_sig; Engrailed homeobox C-terminal signature domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      155458129..155464831
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      155259197..155265894
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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