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    EMX2 empty spiracles homeobox 2 [ Homo sapiens (human) ]

    Gene ID: 2018, updated on 8-Nov-2017
    Official Symbol
    EMX2provided by HGNC
    Official Full Name
    empty spiracles homeobox 2provided by HGNC
    Primary source
    HGNC:HGNC:3341
    See related
    Ensembl:ENSG00000170370 MIM:600035; Vega:OTTHUMG00000019123
    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
    This gene encodes a homeobox-containing transcription factor that is the homolog to the 'empty spiracles' gene in Drosophila. Research on this gene in humans has focused on its expression in three tissues: dorsal telencephalon, olfactory neuroepithelium, and urogenetial system. It is expressed in the dorsal telencephalon during development in a low rostral-lateral to high caudal-medial gradient and is proposed to pattern the neocortex into defined functional areas. It is also expressed in embryonic and adult olfactory neuroepithelia where it complexes with eukaryotic translation initiation factor 4E (eIF4E) and possibly regulates mRNA transport or translation. In the developing urogenital system, it is expressed in epithelial tissues and is negatively regulated by HOXA10. Alternative splicing results in multiple transcript variants encoding distinct proteins.[provided by RefSeq, Sep 2009]
    Orthologs
    Location:
    10q26.11
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (117542445..117549546)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (119301956..119309057)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene PDZ domain containing 8 Neighboring gene uncharacterized LOC105378502 Neighboring gene EMX2 opposite strand/antisense RNA Neighboring gene uncharacterized LOC107984274 Neighboring gene uncharacterized LOC102724627

    • 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?

    Associated conditions

    Description Tests
    SCHIZENCEPHALY
    MedGen: C0266484 OMIM: 269160 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2011-12-21)

    ClinGen Genome Curation Page
    Haploinsufficency

    Some evidence for dosage pathogenicity (Last evaluated (2011-12-21)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    A meta-analysis of genome-wide association studies of the electrocardiographic early repolarization pattern.
    NHGRI GWA Catalog
    A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
    NHGRI GWA Catalog
    Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
    NHGRI GWA Catalog
    Genome-wide association study identifies TH1 pathway genes associated with lung function in asthmatic patients.
    NHGRI GWA Catalog
    Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    anterior/posterior pattern specification IEA
    Inferred from Electronic Annotation
    more info
     
    cell proliferation in forebrain IEA
    Inferred from Electronic Annotation
    more info
     
    cerebral cortex regionalization IEA
    Inferred from Electronic Annotation
    more info
     
    dentate gyrus development IEA
    Inferred from Electronic Annotation
    more info
     
    forebrain cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    renal system development IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    homeobox protein EMX2
    Names
    empty spiracles homolog 2
    empty spiracles-like protein 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_013009.1 RefSeqGene

      Range
      5001..12102
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001165924.1NP_001159396.1  homeobox protein EMX2 isoform 2

      See identical proteins and their annotated locations for NP_001159396.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region, compared to variant 1, which results in a frameshift and a protein (isoform 2) with a shorter and distinct C-terminus, compared to isoform 1. Isoform 2 lacks the C-terminal homeodomain of isoform 1
      Source sequence(s)
      AC005871, AF301598, AI701984
      Consensus CDS
      CCDS53583.1
      UniProtKB/Swiss-Prot
      Q04743
      Related
      ENSP00000474874.1, ENST00000442245.5
    2. NM_004098.3NP_004089.1  homeobox protein EMX2 isoform 1

      See identical proteins and their annotated locations for NP_004089.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF301598, AI701984
      Consensus CDS
      CCDS7601.1
      UniProtKB/Swiss-Prot
      Q04743
      Related
      ENSP00000450962.3, OTTHUMP00000020578, ENST00000553456.4, OTTHUMT00000050569
      Conserved Domains (1) summary
      pfam00046
      Location:158210
      Homeobox; Homeobox 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_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      117542445..117549546
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      119586078..119593194
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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